Degenerative neurological conditions Assessment 2 draft and notes

1.

Milne, S. C., Corben, L. A., Georgiou-Karistianis, N., Delatycki, M. B., & Yiu, E. M. (2017).
Rehabilitation for Individuals With Genetic Degenerative Ataxia: A Systematic Review.
Neurorehabilitation and Neural Repair, 31(7), 609–622.
https://doi.org/10.1177/1545968317712469v

- Reviews ambulant and nonambulant cohorts, both showed similar improvements,

interventions targeting ambulation better in the early phases of the disease as
neuroplasticity may be more accessible at this point but both cohorts can benefit
from structural and functional improvements of neuro rehab
- Rx based on symptom mx and maintenance of function
- There is consistent evidence that rehab improves function, mobilty, ataxia and
balance in genetic degenerative ataxia
- Autosomal dominant ataxias (SCA) are classified into more than 40 subtypes
- Disease onset and clinical presentation are variable within SCA disease category
however loss of functiona nd mobilty is universal
- Proven pharmacological rx rare – rehab and PT essential to mx symptoms and
aintain function
- High intensity coordination training beneficial – gains of up to 1 year of natural
disease progression
- Rehab most effective early in disease course – most benefits shown from
coordinationa nd balance training and ultifaceted inapatinet rehab
- strengthening and balance exercises, spinal mobilization, relaxation, coordinative
and dual motor task practice, and gait, stair climbing, and activities of daily living
practice.
- No change in ICARS scores for 4 week cycling regime
- the most conclusive evidence (NHMRC level II study), reporting significant between-
group improvements in ataxia, function, number of falls, and balance after 4 weeks
of inpatient rehabilitation for individuals with more pure cerebellar ataxia
- This review highlights the significant heterogeneity in intervention type, intensity,
and duration of rehabilitation interventions. This inconsistency renders drawing
conclusions difficult. However, preliminary findings suggest that multifaceted
programs incorporating more than one focus, such as coordination and balance
training or multidisciplinary inpatient programs, may have greater effect than
singularly focused therapies such as balance training or occupational therapy alone.
- principles of neurorehabilitation such as variable practice, practice intensity,
reward during practice, and off-line skill learning (ie, during sleep)46 enhance
motor learning and thus should influence the design of interventions. Concurrent
neuroplasticity augmentation therapies such as I-wave periodicity transcranial
magnetic stimulation (iTMS) offer exciting new avenues to establish the best
mechanisms for functional change.47,48 Aerobic exercise and other adjunct
pharmacotherapies, including the utilization of neurotransmitters, dopamine and
serotonin, may further enhance neuroplasticity

2.
He, M., Zhang, H., Tang, Z., & Gao, S. (2021). Balance and coordination training for patients with
genetic degenerative ataxia: a systematic review. Journal of Neurology, 268(10), 3690–3705.
https://doi.org/10.1007/s00415-020-09938-6

- genetic degenerative ataxias share the same feature of gradual deterioration in

balance and co-ordination which impacts independence and QoL
- no cure so rehab is an essential part of therapy
1. conventional PT/OT
 static and dynamic exercises
 coordinaton
 home and community training (home based training is feasible and
potentially effective)
 neurorehab can improve gait, balance and coord
 outpatient rehab may be beneficial
 Leg cycling and core stability
training have also been reported to be effective in improv-
ing balance and motor function in individuals with DA
2. VR/video-based gaming
 May offer a low cost noninvasive therapy which is motivation enhancing and
can simulate real-world situations without adverse events to promote
neuromuscular recovery and reduce ataxia symptoms with improved
functional performance
 VR/VG-based rehabilitation program should
also be individually tailored by professional clinicians to
avoid over- or under-challenging. Taking into account the
advantages including low-cost, enjoyable, motivating and
easy-to-implement at home, the VR/VG-based rehabilitation
may become an increasingly popular rehabilitation approach
for both adults and children in the future
3. Adapted physical activity eg dancing and ztai chi
 May potentially improve balance, gait and functional mobilty whilst
participating in the activity
 studies concerning the effects of
dancing or Tai Chi programs in the rehabilitation of DA are
much limited
- Most patients achieved significant improvements in balance and co-ord following
indiv tailored rehab prog regardless of level of functional dependence on admission
- The functional recovery of
DA is different from that of other groups of ataxias such as
the vascular cerebellar disease, even following an identical
rehabilitation program
- patients with DA are capable of
learning new strategies to improve their balance and coor-
dinative function [
- retention of exercises may depend on the continuity of exercise and long term outcomes impacted by intensity of
training at home

3.

Miyai, I., Ito, M., Hattori, N., Mihara, M., Hatakenaka, M., Yagura, H., Sobue, G., &
Nishizawa, M. (2012). Cerebellar Ataxia Rehabilitation Trial in Degenerative Cerebellar
Diseases. Neurorehabilitation and Neural Repair, 26(5), 515–522.
https://doi.org/10.1177/1545968311425918
 - 1 hours each of IP PT and OT focusing on coordination, balance and ADLs on
weekdays and 1 hour of either PT or OT on weekends for 4/52, control
received same with a four week delay
- Oms: assessment and rating of ataxia, FIM, gait speed, cadence, functional
ambulation category, number of falls
- Functional gains in ataxia, gait speed and ADLs, improvement more
pronounced in truncal ataxia more than limb ataxia, gains maintained at 12
and 24 weeks
- Conclusion: short term gains from intensive rehab but functional status tends
to decline at 24 weeks
- Cerebellum plays a crucial role in motor learning and motor sequence learning
– cerebellum also involved in shifting movt from attentionally demanding
state to more automatic state – impaired motor learning my influence the
effect of rehabilitation on motor function and ADLs in patients with cerebellar
damage
- It is also unclear whether the impaired motor learning is compensated by
repeated practice for balance, gait, and ADLs
- continuous coordination training for 4 weeks improved motor performance
and reduced ataxia symptoms in patients with cerebellar ataxia. The effect
lasted for 8 weeks with a self-directed home exercise program.
 PT: emphasised improving posture and gait: general conditioning, ROM exercises for
trunk and limbs, MM strengthening, static and dynamic balance exercises ith
standing, kneeling, sitting and quadruped standing, mobilising the spine while prone
and supine, walking indoors and outdoors, climbing up and down stairs
 OT: improving ADLs and relaxation, hygiene, dressing, writing, eating, toileting,
bathing, balance exercises, reaching, co-operative tasks of ULs and trunk and dual
motor tasks eg handling objects while standing and walking
 Lower Bsleine SARA better prognosis for functional imrovements sstained at 24
weeks
 This suggests that encoding of motor learning for these skills is at least partly
preserved in these patients because functional gains after rehabilitation correlated with
capacity for motor learning in patients with cerebellar ataxia.17 Although such motor
learning depends on both cerebellar and basal ganglia systems,5 our findings suggest
that repetitive rehabilitative interventions focusing on balance, gait, and ADLs may
improve impairment and its related disability in spite of considerable cerebellar
dysfunction. Although the improvement of ataxia was prominent in the trunk, limb
ataxia also showed a significant gain.
 Baalcne reaction by handling trunk then providing verbal commands – multimodoal
inputs including visual, somatosensory and vestibular information to learn balcne
skill more effectively than self practice with simple repetition
 to elucidate if repeated rehabilitative intervention affects the natural history of
degenerative disease, long-term evaluation over 10 years is necessary

4.

Ilg, W., & Timmann, D. (2013). Gait ataxia-specific cerebellar influences and their
rehabilitation. Movement Disorders, 28(11), 1566–1575. https://doi.org/10.1002/mds.25558

- cerebellum is important for movt control and plays a critical role in balance
and locomotion
- gait patterns are variable due to the interaction of:
 primary motor deficits in balance control and multijoint coordination
and oculomotor dysfunction
 safety strategies used
 inaccurate adjustments in patients with LOB
- role of cerebellum in adaptive motor control, interaction between cognitive
load and gait in dual-task paradigms, cerebellar mechanisms in multijoint
coordination during different walking conditions
- functional role of the cerebellum is not motor control, it is shaping and fine
tuning movts – therefor cerebellar damage does not cause loss of movt but
leads to abnormalities in movt characterised by variability and poor accuracy
- typical ataxia symptoms: dysmetria – hyper/hypometria, cerebellar tremor,
dyssynergia – loss of simultaneous joint movts
- cerebellum is involved in motor beh of speech, oculomotor control, limb
movts and balance
- Consistently, ataxic gait appears to be influenced by deficits like dyssynergia
(eg disordered coordination between head, trunk, and legs) and dysmetria (eg
impaired predictive postural adjustmends4) in balance control and multi-joint
leg coordination, acting on a whole-body control problem with complex
dynamics
- ataxic gait is typically characterized by an increased step width, variable foot
placement, irregular foot trajectories, and a resulting instable, stumbling
walking path with very high movement variability6-8 and a high risk of falling
- observed significant changes in step width, step length, speed, and the
durations of the double and single support periods only for the group with
severe ataxia
- angle ranges, cadence, stance time, the time of maximum flexion during the
swing phase, as well as increased body sway in different directions and
temporal variability in intralimb coordination
 Medial region (vernis) – eye movt control, regulates extensor control
in locomotion, sustains upright stance and dynamic balance control +
modulates rhythmic flexor and extensor muscle activity
 Intermediate cerebellar region – precise limb movts involving directed
limb placement and regulating agonist antagonist muscle pairs to
control the relative timing and movement amplitude
 Lateral cerebellum – less important for the control of uninterrupted
level walking, may play a role in adjusting locomotor patterns to novel
contexts or when strokng visual guidance is required
- Postural deficits in quiet stance, postural deficits in response to balance
disturbances, deificts in reposnt to voluntary movts such as gait initiation
- abnormalities in gait, like dynamic balance and irregular foot trajectories in
ataxic gait, also are influenced by deficits in the control of intra-limb
coordination, rather than solely being by-products of balance impairments.
- results suggested that ataxic gait is influenced by both balance-related
impairments and deficits related to limb control and intra-limb coordination
- l a lack of dual-task studies for cerebellar patients. However, the interaction of
cognitive tasks and motor tasks may be especially relevant in cerebellar
dysfunctions; because, along with the importance of the cerebellum on motor
control walking, there is evidence for the involvement of the lateral
cerebellum in cognitive processes like working memory
 - degenerative diseases of the cerebellum very difficult to treat because they
mipact almost all of the cerebellum and are progressive, motor
rehabilitation is challenging because of the functional role of the
cerebellum in motor learning and motor adaptation
- PT involving demanding balance and gait tasks may result in postural
stability and less dependency on walking aids, treadmill training may be
of benefit
- Intensive coordination training can be of benefit
- “The strategy of the physiotherapeutic intervention was to activate and
demand control mechanisms for balance control and multi-joint coordination.
Furthermore, the intervention trained the patients' ability to select and use
visual, somatosensory, and vestibular inputs to preserve and retrain patients'
capability for reacting to unforeseen situations and for avoiding falls as much
as possible”\”\”
- “4-week course of intensive training with 3 sessions of 1 hour per week.
Exercises included the following categories: 1) static balance, eg standing
on 1 leg; 2) dynamic balance, eg sidesteps, climbing stairs; 3) complex,
whole-body movements to train trunk-limb coordination; and 4) steps to
prevent falling and falling strategies
- An important principle of the motor training was to train increasingly
demanding movements (from static to dynamic balance; from slow to fast
movements; and from single joint movements to complex, multi-joint
coordination

5.

Butcher, P. A., Ivry, R. B., Kuo, S.-H., Rydz, D., Krakauer, J. W., & Taylor, J. A.
(2017). The cerebellum does more than sensory prediction error-based learning in
sensorimotor adaptation tasks. Journal of Neurophysiology, 118(3), 1622–1636.
https://doi.org/10.1152/jn.00451.2017

- individuals with damage to cerebellum perform poorly in sensorimotor

adaptation programsn
- impaired sensor prediction error-based updating of an internal forward model
– a form of implicit learning
- individuals with SCA display impariments in implicit learning and aiming
- a consequence of cerebellar dysfunction is not only impaired sensory
prediction error-based learning but also a difficulty in developing and/or
maintaining an aiming solution in response to a visuomotor perturbation
- SCA – impaired sensorimotor adaptation
- When individuals with cerebellar degeneration are provided with explicit
aiming strategies and visual cues to support the implementation of that
strategy they show near perfect performance in visuomotor adaptation task
- the cerebellum may be necessary not only for implicit learning but also for
discovering, implementing, and/or adjusting an appropriate aiming solution
when it is not provided directly through instruction
- t individuals with SCA exhibited impaired implicit learning, even when one
considers how increased motor variability might impinge upon learning and
performance.
6.

Klockgether, T., Mariotti, C., & Paulson, H. L. (2019). Spinocerebellar ataxia. Nature
Reviews. Disease Primers, 5(1), 24–24. https://doi.org/10.1038/s41572-019-0074-3

- SCAs genetically heterogenous group of autosomal dominant herited

progressive disorders characterised by LOB and impaired coordination
accompanied by slurred speech, onset usually in adulthood, damage to
Purkinje neurons and cerebellar atrophy, spinal cord, basal ganglia and some
pontine neurons may be involved, can lead to premature death,
- “Ataxia means absence of order” and denotes a clinical syndrome of
incoordination >40 types of SCA – each subtype has a number SCA cause
Spinal cord and cerebellum implicaeted in pathological changes, can also
impact brainstem and peripheral nerves and basal ganglia
- Manifestation in childhood and old age can occur, but usually in 3rd of 4th
decade of life
- Neuropathological findings vary depending on subtype
- Population based epidemiology info is limited, usually numbers com from
specialised ataxia centers and diagnosis and screening vary depending on
locationa nd availability of specialist services
 Diagnosis:
- Pre-ataxia stage: symptoms may begin several years before gait ataxia: poor
performance on coordination tets, increased gaze-invoked nystgagmus,
prevalence of muscle cramps and sensory disturbances which worsen over
time, atrophy of posterior fossa brain structures
- Initiation of treatments may be more effective at this stage (My take – involve
at risk family members in therapy early)
- First abnormality noted by patients is likely to be ataxia/unsteadiness of gait,
then incoordination of extremities with difficulties writing and loss of fine
motor skills, then most note speech and swallow problems + oculomotor
abnormalities
 Disturbed pursuit eye movements, gaze invoked nystagmus,
inaccuracy of fast saccadic eye movt, and occasionally double vision
 The clinical presentation of SCAs is complicated by the frequent occurrence of
non- ataxia symptoms, including motor symptoms namely, weakness, spasticity and
amyotrophy), movement disorders (such as parkinsonism, dystonia and chorea) 148 ,
oculomotor abnormalities related to brainstem dysfunction (such as slowing of fast saccadic
eye movements or gaze palsy), sensory symptoms, epilepsy,myoclonus, cognitive and
intellectual dysfunction and urinary symptoms + rapid eye movt sleep disorders, excessive
daytime sleep, insomnia and sleep apnoea
 Depression effects 17-26% of SCA patients with negative impact on functional status
 Diagnosis based on clinical presentation, MRI, family history, genetic testing for SCA
genotype, nerve conduction studies and autonomic and cognitive testing
 Resources for genetic testing limited in many healthcare systems
- SARA: Scale for assessment and rating of ataxia – semiquantitative assessment of ataxia on an
impairment level. Currently the most widely used OM for clinical trials on SCAs
- Each SCA presents slightly differently, and determining effective Rx can be hampered by heterogeneity
of research – no pharmacological treatments currently approved for use with SCAs – clinical
management remains focused on symptom management and support for the maintenance of function –
PT, OT, speech
- Rx can be inpation/outpatient or home based or a combo
 - PT focus: gait, balance, co-ordination, posture, MM strength with conventional exercises, computer
assisted training, treadmill training and biofeedback. As IP 12 hour per week of PT improves SARA and
FIM scores
- There is an absence of SCA specific QoL tools – determinants of Qol include ataxia severity, the extend
of non-cerebellar involvement and the presence of depressive syndrome. QoL deteriorates over time in
all SCA genotypes. The presence of a care giver is a strong determinant of QoL
- For trials of symptomatic treat-
ment approaches, sufficiently validated clinical outcome
measures are available. In order for early-phase trials of
disease-modifying treatments to be performed, however,
sensitive biomarkers that can indicate treatment efficacy
in small groups of patients need to be identified before
larger trials relying on clinical outcome measures can
be initiated. It will be especially important to identify
biomarkers for preventive trials, as clinical outcome
measures for the severity of ataxia lack sensitivity in
the pre-ataxia stage, when ataxia symptoms assessed by
these scales are absent

7.

Ambrosi, C., & Ambrosi, P (2022). Living and Coping with Spinocerebellar Ataxia. In
P. Ambrosi (Ed.), Spinocerebellar Ataxia : Concepts, Particularities and Generalities. (pp.
89-99). IntechOpen.

(Ambrosi., 2022)

- Most ataxias are incurable so pall care is an impotant consideration

- Some forms of SCA can progress rapidly with a shorter lifespan
- SCA – inherited autosomal disorders characterised by degen changes in
cerebellum which impacts motor control + spinal cord and results in
progressive decline in functional activity
- Several subtypes of SCA have been identified – cerebellar ataxia is a common
feature of each type
- No current treatment available to stop the progression
- Strategic management of SCA to improve quality of life and reduce suffering,
addressing complex medical symptoms, psychosocial issues, general well-being,
and planning requires a broad and dedicated multidisciplinary involving palliative
care approach. For patients with more complex needs help from a palliative care
specialist team may be necessary
- Generally onset in middle age
- Need for MDT support to manage symptoms and needs (spasticity, bladder problems,
speech and language problems, swallow, feeding via percutaneous gastrotomy)
- Impact of SCA on cognition not know can potentially impact behaviour, personality
and judgement
- Mental health complications (anxiety and depression) + sleep disturbances and
fatigue, checking in on cardiac function
- Neurologist, advanced pall care nurse, social worker, psychiatrist, PT, OT, speech
therapist + patient support groups and support for family members – especially for
genetic component + potentially a member of religious institution to address
spiritual/existential concerns
- SCA can be difficult to manage, can progress rapidly and results in shortedend life
- “Compared to usual care, it pro-
vides relief from suffering, works in quality of life, plans for decline, advances care
planning, focuses on patient and family, and requires a consistent team approach
and strategy. The members of neuro-palliative care are doctors who are going to
 review the history and physical examination, establishing goals of care, symptoms
management and education, about disease and prognosis discussion which is very
difficult related to SCA due to lack of key markers then normally is done about the
point of care of each individual case”
- The nursing team is going to make the medication review, identification of
medical durable power of attorney, discussion of advanced care planning at the
appropriate time besides for screening caregiver distress. The chaplain is going to
address spiritual/existential concerns, exploring social and family issues, identify-
ing, and discussing grief and screening for caregiver distress. The social worker
is going to advice on financial and insurance issues. Providing resources for home
health care, and logistical aspects of transition care.
- Spiritual component
- Patients with intractable and/or distressing physical symptoms may
benefit from referral for a specialist palliative care, which might also help those with
complex social, psychological, or spiritual needs and plan of care.
- The time for planning end-of-life care is when the clinician answers ‘No’ to
the ‘surprise question’—‘Would you be surprised if this patient died in the next
12 months?’—as well there being generic and specific (for ataxia) indicators that
the patients have reached the terminal phase of their illness. Management in this
phase should be geared toward enabling a ‘good death’: being treated as an indi-
vidual, with dignity and respect, without pain or other distressing symptoms, in
familiar surroundings, and the company of close friends and family.
- unique psychosocial stressors such as
changing roles in a relationship, loss of autonomy, financial strain, communica-
tion difficulties, social isolation (especially during Covid-19 pandemic), cosmetic
effects, a social stigma that will require referral to an attorney, psychotherapy,
support groups, ataxia specific programming in rehabilitation centers
- The spiritual distress includes grief, guilt, fear of cognitive decline, existential
crisis, and death anxiety and needs to be addressed the caregiver distress as well as
high levels of burden and depression. Establishing an advance care plan to ensure
that patient wishes are known and planning the future associated with improve-
ment of patient satisfaction, lower hospital admission rates, decreases significantly
the psychological comorbidities and suffering for the family.
- the palliative care approach in patients living and coping with
SCA should benefit the patient’s life in many aspects, such as better quality of life,
improved symptom burden, better life of patient and family, greater satisfaction
with care, higher rates and quality of the advance plan of future and no adverse
effects. In addition to that, further studies are needed as clinical priorities included
to develop and implement models to integrate palliative care into neurology and
to develop and implement informative quality measures to evaluate and compare
palliative approaches in SCA through validated trials.

8.

Matsugi, A., Bando, K., Kikuchi, Y., Kondo, Y., & Nakano, H. (2022). Rehabilitation for
Spinocerebellar Ataxia. In P. Ambrosi (Ed.), Spinocerebellar Ataxia : Concepts,
Particularities and Generalities. (pp. 89-99). IntechOpen.

(Matsugi et. al., 2022)

- Rehab important for SCA as it impacts participation in social activites and

impaired QoL
 - High-intensity individualised physical rehab programs for gait and balance
training may improve motor function
- Videos + tech to improve motor learning and gait stability
 “SCA a genetically heterogeneous group of autosomal dominantly inherited
progressive disorders”
 Clinical features: cerebellar atrophy and spinal cord and basal ganglion damage
 Symptoms: impaired coord of eyes, head, trunk and extremities – cerebellar motor deficits
 Difficult to slow the progression of the disease “Rehabilitation [5, 6], including physical
therapy [7, 8], aimed at improving/maintaining – no pharmacological Rx for decreasing ataxia
or improving QoL
motor function, ADL, and QOL [5] is an important intervention for patients with SCA.”
 “The cerebellum is the motor-control system in humans [12]. Clinically, the
oculomotor deficit, speech deficits, ataxia in the trunk and extremities, balance
disorder, and gait disturbance are the targets of rehabilitation in SCA”
 “The possible underlying pathogenetic mechanisms include distorted timing, abnormal
sensory acquisition, impaired sensory motor synchronization, impaired triggering
of corticomotor excitability, and abnormal visuokinesthetic cerebro-cerebellar
interactions”
 “Oculomotor deficits cause deoptimized vision. The vestibulo-ocular reflex and
smooth pursuit [14] partially depend on motor prediction in static and dynamic
movement and contribute to dynamic gazing [15]; moreover, the cerebellum
contributes to the trainability of eye-head coordinated movements”
 Under+ overshooting due to uncoordinated patters or agonist/antagonist MM movt
 Impaired motor learning deficit evident from early stages of the disorder
 “Representative nonataxia symptoms include hyperreflexia, areflexia, extensor
plantar, spasticity, paresis, muscle atrophy, fasciculations, myoclonus, rigidity,
chorea/dyskinesia, dystonia, resting tremor, sensory symptoms, urinary dysfunc-
tion, cognitive impairment, and brain stem oculomotor signs [“
 Gait disturbance is a major symptom of cerebellar pathology in SCA
 Balance dysfunction in SCA impacts QoL
 Changes in gait pattern – BOS and gait speed and high spatiotemporal gait variability is a
distinctive feature of ataxic gait
 The cerebellum has the ability to compensate for tissue damage and loss of
function. This is called the cerebellar reserve [6]. Mitoma et al. suggested that this
is important for motor rehabilitation at a time when the cerebellar reserve is func-
tioning [6]. Motor rehabilitation in the early stages may maintain and improve the
cerebellar reserve [66, 67]. Therefore, it is important to assess this parameter
 Ataxia symptoms may represent a compensation for predictive control using feedback control
 Predictive control requires a mechanism called internal model. The internal model is
constantly updated by motor learning In turn, motor learning is one of the most impor-
tant functions of the cerebellum. Thus, a measure of motor learning ability may be
useful as an assessment of the cerebellar reserve.

Ax

- To detect degree of motor dysfunction – MRI for info on atrophic areas of the brain +
Oms
- Functional ambulation categories (FAC) comprehensive Ax of walking ability – Ax
gait for 15m and climbing stairs, classifies gait into 6 levels (52)
- The International Cooperative Ataxia Rating Scale (ICARS) has been used
as a quantitative assessment of ataxia symptoms.
 - The Scale for Assessment
and Rating of Ataxia (SARA) is an 8-item performance-based scale that yields a
total score of 0–40 (most severe ataxia). The minimal detectable change (MDC) for
individual score difference from the baseline to the 1-year follow-up in SARA was
<3.5 (n = 171; SCA1, n = 43; SCA2, n = 61; SCA3, n = 37; and SCA6, n = 30; mean
age, 50.9 ± 13.5 years; mean disease duration, 11.8 ± 5.6 years)
- Brief Ataxia Rating Scale, a
modification of ICARS
- Berg + TUG – widely used but not Ax for reliability and validity in SCA
- The BESTest is a multitask balance assessment tool that was developed
to identify specific postural control problems (i.e., biomechanical
constraints,
stability limits, anticipatory postural adjustments, postural responses,
sensory
orientation, dynamic balance during gait, and cognitive effects) [61]. The
MDC
for an individual score difference from the baseline to the 4-week follow-
up in BESTest was <8.7 (n = 20; SCA3, n = 4; SCA6, n = 9; SCA31, n = 7; mean
age,
63.7 ± 10.1 years; age at onset, 53.9 ± 10.5 years; baseline SARA, 9.9 ± 3.5) [61].
Many types of balance function measures have been reported. However, BESTest
is the only scale that is considered to have absolute reliability in SCA.
- GVI gait variability index he MDC for an individual
score difference from day 1 to day 2 in GVI was < 8.6 It has been suggested that
gait instability in SCA are characterized by a stronger effect of balance-related
impairments of cerebellar control during slow walking and a stronger effect of
impaired intra-limb coordination during fast walking [58]. Therefore, in clinical
practice, it is necessary to evaluate not only the optimal gait speed, but also slow
walking and fast walking, to extract the characteristics of gait instability.

Rehab
- Targets are impairments in ADLs, gait and motor dysfunction
- Oms GAS, FIM, 10m walk test, TCA, SARA, ICARS and Besteset
- Therapy needs to be intensive
- continuous outpatient rehabilitation programs are important for maintaining the
ADL
1. Balance training
- Balance is essential for mobility and QoL
- Intensive static and dynamic balance and coordination training
- There is some evidence that
such therapeutic training programs alleviate the ataxic symptoms and improve
functional activities in a person with cerebellar ataxia 63, 78, 102]
- Highly repetitive balance training for balance impairment in SCA
- Combining a dual task with balance training improves balacen and reduces the
number of falls in individuals with cerebellar ataxia
- Assist patients to create exercise habits with gradual increase in load – balance
training neds to be enjoyable – consider patient preferences
- “In advanced stages of the disease (i.e., no ambulation), it is necessary to perform
balance training under safe conditions (e.g., prone, supine, crawl, and sitting
positions), to prevent the decrease in physical activity. Even in advanced stages, it
has been reported that a person with degenerative ataxia may benefit from balance
 training [107]. In addition, it is necessary to focus on ADL and living infrastructure
at this stage. If a patient with SCA requires assistance during transfer, engaging
in repetitive transfer training with assistance and/or modification of the living
infrastructure (e.g., installation of handrails) are necessary.”
- Not clear on how many repetitions are necessary to preserve balacnenf unction – at
least 30? Needs to be specific to individual impairments, be challenging, and
reperitive – use it or lose it
-

2. Gait training
- may improve spatiotemporal gait parameters (cadence, step/length/width, gait
speed)
- complec gait (TUG, DGI)
- disturbances of gait are a key feature of SCA – increased risk of falling down
– reduced walking speed and cadence, redued step length, stride length and
simbg phase, increased BOS, stride time, step time, stance phase and double
limb support phase, increased variability of step length, stride length and stride
time – adaptive locomotor adjustment (ALA impairements) due to increased
MM co-contractions and reduced joint movt
- deficits related to limb control and intra-limb co-ordination
- balance training and coordination training are key to the improvement of gait
disturbances.
- With/without treadmill
- “As an example of gait training, persons with SCA
are asked to walk while making an effort to change their walking speed according
 to therapist’s instructions to engage is “fast (or slow)” walking as fast (or slow) as
possible. If patients need assistance when walking, you might want to change the
walking speed with the support of a therapist.”
- “gait training using a treadmill has advantages in that patients can prac-
tice a relatively large amount of gait training over a short period and the therapists
can control the speed and incline easily. Gait training using a treadmill has been
reported as a potentially promising tool for improving ALA in a person with SCA”
- when using a treadmill in gait training, we suggest that walking be practiced at the
speed at which the gait disturbance increases (i.e., slow or fast walking speed) for
specific patients. When the fear of falling increases, the use of a harness is
recommended, to provide a safe environment for gait without the fear of falling
3. Muscle strengthening training using high-intensity program
4. Assistive tech
- Gait support using the curara system has been reported to improve gait smoothness
in patients with SCD
- that robot gait training using Lokomat-Pro in combination with cerebellar tDCS
improved the functional scores on SARA, especially the scores on the subitems of
gait, stance, sitting, and heel-shin slide compared with robot gait training alone
[110]. Thus, hybrid training using robots and noninvasive brain stimulation will be
applied to the rehabilitation treatment of patients with SCD in the future.
- the use of walking aids is a complementary method for balance and
gait impairment. In general, walking aids such as canes and walkers improve pos-
tural stability, but their improper use increases the risk of falling
- walkers may be preverable to cane due to reduced requiredment of UL co-ord
- Recently, a smart walker for mobility assistance and monitoring system aid, ASBGo,
was developed and reported to improve gait parameters and postural stability in
patients with SCA
- Walking assistance dogs may improve balance

9.

Trivago, K., Setiono, S., & Purba, H., (2022). International Classification of
Functioning, Health and Disability (ICF) Conceptual Approach towards
Spinocerebellar Ataxia. In P. Ambrosi (Ed.), Spinocerebellar Ataxia : Concepts,
Particularities and Generalities. (pp. 89-99). IntechOpen.

(Trivago et. al., 2022)

- Various SCA types – rehab mostly focus on functional aspects, types vary
with severity of symptoms

1. Hypotonia (reduced Mm tone

2. Ataxia (loss of coordinated Mm movt) – limb ataxia can be ax using heel to shin test
3. Dysequiplibrium (loss of balance, gait, and trunk ataxia)
4. Dyssynergia (loss of cordinatied MM activity)
5. Dysmetria (inability to do finger to nose)
6. Intentional tremor on voluntary moevments
7. Dysdiadochokinesia
8. Ipsilateral reduced tendon reflexes
9. Asthenia (physical weakness or lack of energy)
 10. Cerebellar nystagmus
11. Dysarthria: slurring of speech

- Autosomal dominant mutation on the SCA gene which disrupts connection

between layers of cerebellum – symptom severity relates to cerebellar areas
involved – results in functional disturbances and learning difficulties
- Cerebellum is center for regulating agonist and antagonist mm contractions –
therefor effects voluntary mm contractions and central hypotonia
- Learning difficulties in SCA impaired conditional skill learning, reduced
ability in adapting changes from environment – therefor poor coordination,
poor intra limb coordination
- Each of the rehabilitation team play an essential part towards the holistic
care of SCA subjects
- ICF to assist in identifying participation aspects – mostly mobilty function +
balance
- Mobility correlates with QoL Therefor this tends to be the main focus of rehab
- “Approximately one
hour physical exercise session focusing on postural control and balance was proven
to be effective in improving disease related measurement tool, functional capacity,
and quality of life.”
- Neuroplasticity through self recognition of errors may be important
- Need to consider impact of fatigue
- Due to the progressive nature of the disease it is plausible to administer the
intervention even when the disorder ahs not yet emerged as this may alleviate
functional deterioration in the future.
 Body structure and function
- Cerebellum – spinocerebellum (center) portion which gathers sensory info from
peripheral organs and relays info to motor cortex
- Balance (static and dynamic) and postural control – difficulty in effective gait
and standing position
 Activity and participation
- Wide range of disorders
- Gait efficacy + poor terrain adaptability
- Varied severity of cognitive impairments – verbal memory, learning and
fluencyimpacting community participation
 Environmental factors
- Difficulty walking on varied terrains
- stable walking in varying level terrains require several functions ranging from
cognition, vision, limb control, and balance. Severe fatigue was also seen in 69% of
SCA patients
- interventions should consider living/community terrain environments
- depression is common and impacts QoL – depression levels lower in patietns
with better mobility – early detection of depression is important

Rehab strategies for SCA

- mobility, balance, endurance, cognition and speech

- exercise, physical modality and sensory stimulation
  PT:
- Mobilty interventions both conventional + exergaming and VR
- Gait control aimed at improving balance, strength, endurance and posture
simultaneously + trunk balance
- No published guidelines aonf SCA mobilty exercise
- Intensive neurorehab has shown benefits – 4 hours per day x5 per week for
12/52
- Co-ordination exercises which trains intralimb co-ordination has been shoen to
be effective in improving cerebellar symptoms
- Bodyweight supported treadmill training could improve balance significantly
- Trunk ataxa has better prognosis than limba ataxia
- Rate of annual degeneration must be matched with beneficial gains of exercise
- May consider use of VR and exergames to provide simulations of rapid
environmental changes and sensorimotor improvement
- Proper choosing of modalities would benefit SCA subjects in different stages,
where early stages could follow high demand competitive sporting exergames
such as ping-pong, badminton and squash [8]. These exergames and virtual reality
should be performed on elastic carpet, as it’s shown to give additional benefits in
improving coordination and postural control through proprioceptive feedback.
More severe ataxia would not allow them to play on competitive exergames, and
would obtain greater advantage from good postural control. Games such as tight-
rope walk, which requires the user to maintain a specific position while still advanc-
ing forward, had been reported to effectively enhance both static and dynamic
balance
- Several studies had shown that static cycling would be an effective intervention
to improve intra limb control A controlled trial
comprising of four week long cycling exercise was reported to restore the ability
in modulating H-reflex inhibition, and is also correlated with better functional
performances
- Postural training is important

 OT
- Aimed at improving the QoL of ppl with SCA
- Target dressing, adls such as keyboards, communication activities such as
reading texts out loud, commenting and interpreting verbal and textual info.
- studies focusing on occupational therapy as an
individual therapy is still lacking due to the progressive nature of the disease, thus
could only be shown as an additive effect to the proven effective physiotherapy

 Speech
- Some types of SCA may present with dysphagia due to excess salivation –
swallowing exercises + dietary modification, addressing speech and language

10.
 Cassidy, E., (2018). The meanings of physiotherapy and exercise for people living with
progressive cerebellar ataxia: an interpretative phenomenological analysis. Disability and
Rehabilitation : an International, Multidisciplinary Journal, 40(8).

- PT/exercise participants valued building collaborative and long-term

therapeutic relationships with expert physiotherapists and were not necessarily
looking to improve ataxia related impairments
- Self-devised exercise conferred multiple psychosocial benefits that were
largely absent from PT prescribed home exercise programs
 Special attention should be given to patients perspectives in order to
provide services that are meaningful and value by people living with
ataxia
 Programs need to be individualised and consider psychosocial effects
of participation and foster long term engagement
 Exercises should be enjoyable, meaningful, satisfying and
appropriately challenging
 PT services should be sustained, collabortive and flexible
 Highest levels of patient satisfaction with lng-standing, open ended and
ongoing contact with specialist physiotherapists
 participants were asked to talk about physiotherapy, their encounters
with physiotherapists, and physiotherapy services, and their
experiences of exercise (whether physiotherapist-prescribed or self-
initiated). Participants were invited to reflect upon what they had found
useful and supportive as well as any negative experiences of
physiotherapy\
 The majority of participants looked to forge long-term partnerships
with physiotherapists but regretted that this kind of therapeutic alliance
was rarely encountered in practice
 Long-term continuity of care seemed important, not simply the
existence of an ongoing service but perhaps more importantly the same
physiotherapist
 Physiotherapy also perhaps offered a means to circumvent the
downward spiral of inactivity and despondency
 Compensation strategies – eg hands out of pockets or use backpack
 home exercises. These were easily forgotten or put aside.
 Patients value rpport with therapist and continuity of care +
individualised programs
 n summary, participants were not looking for a cure, or necessarily an
improvement in physical impairment but to connect with a
knowledgeable, thoughtful professional who would take the time to
carefully listen, and who could offer long-term collaboration, sound
advice and support. Participants therefore seemed to place importance
on physiotherapists who could help maintain hope and maximize day-
to-day living.
 Several participants spoke of the importance of exercise as a means of
doing something positive in the face of living with a progressive and
incurable condition. Although the benefits of “doing” were described
in terms of feeling better in oneself or about oneself, there seemed to
be something deeper to understand that went beyond an interpretation
 that exercise simply conferred physical benefits and/or was only
concerned with the management of symptoms.
 exercise could be understood as a way of gaining a sense of agency in
a situation where there is no cure or symptomatic relief. Exercise was
not undertaken as a means of curing ataxia; it was not some naïve
enterprise where exercise was thought to succeed where medicine had
failed.
 for the majority of participants, exercise seemed to provide a sense of
purpose and well-being, not a feeling that they were able to gain
complete control over their condition but at least some sense that they
were not rendered powerless by its effects.
 out-of-doors activities were described as helping to reduce feelings of
isolation and keeping depression at bay
 Exercise seemed to be much more about being in the world;
meaningful activities and authentic involvement with others; health
promotion perhaps in the broadest of senses. Physiotherapist-
prescribed exercise formed a small focus here, most were self-
discovered types of activities and sports. These diverse activities,
ostensibly concerned with the body, reduced social isolation, sustained
valued occupations, preserved identity, countered depression helped to
overcome stigma, and generated a sense of well-being and control. The
particular significance and importance of each of these psychosocial
concerns, and their contribution to sustaining a positive sense of self
varied for each participant.
 In the present study, prescribed home exercise programs were
perceived to work well where programs had been jointly developed,
regularly monitored and when psychological benefits such as a sense
of control and agency were also conferred. However, home exercise
programs were negatively appraised when they were perceived to be
inexpertly prescribed and poorly monitored, if they were perceived to
offer no tangible psychosocial benefits, when they increased fatigue,
and heightened the salience of ataxia in participants’ lives.
 activities, which offer an added sense of challenge, enjoyment,
achievement and satisfaction, may also sustain the motivation to
continue to exercise and, by rendering ill health as less of a “master
status,” may diminish the relevance of physical impairment on the
sense of self
 Participants in the present study perceived physiotherapists as focused
on prescribing impairment-level, home-based exercises that were
perhaps consistent with this important model of health promotion, and
yet the value participants placed on undertaking other forms of activity
and exercise was perhaps overlooked by their physiotherapists
 physiotherapy and exercise prescription should respect the expertise
and resourcefulness of people living with ataxia, seek to understand the
meaning of exercise in the context of patients’ everyday lives, and
focus on the achievement of self-directed goals through doing
enjoyable, challenging and meaningful activities. At the same time,
advice and on-going support should be offered in a flexible and
responsive manner. We argue that outcomes should comprise patient-
 centered and quality of life measures that have meaning in the
everyday lives of people living with a progressive ataxia. T
Degenerative neurological conditions Assessment 2 draft essay

Assignment 2: Progression along the continuum of care. 1,500 words.

Choose a degenerative neurological condition and discuss with supporting evidence:

1. the pathogenesis of the condition,

- SCAs genetically heterogenous group of autosomal dominant herited
progressive disorders characterised by LOB and impaired coordination
accompanied by slurred speech, onset usually in adulthood, damage to
Purkinje neurons and cerebellar atrophy, spinal cord, basal ganglia and some
pontine neurons may be involved, can lead to premature death,
- “Ataxia means absence of order” and denotes a clinical syndrome of
incoordination >40 types of SCA – each subtype has a number SCA cause
Spinal cord and cerebellum implicaeted in pathological changes, can also
impact brainstem and peripheral nerves and basal ganglia
- Manifestation in childhood and old age can occur, but usually in 3rd of 4th
decade of life
- Neuropathological findings vary depending on subtype
- Population based epidemiology info is limited, usually numbers com from
specialised ataxia centers and diagnosis and screening vary depending on
locationa nd availability of specialist services
(Klockgether et. al., 2019)

- Autosomal dominant mutation on the SCA gene which disrupts connection

between layers of cerebellum – symptom severity relates to cerebellar areas
involved – results in functional disturbances and learning difficulties
- Cerebellum is center for regulating agonist and antagonist mm contractions –
therefor effects voluntary mm contractions and central hypotonia
- Learning difficulties in SCA impaired conditional skill learning, reduced ability
in adapting changes from environment – therefor poor coordination, poor
intra limb coordination

(Trivago et. al., 2022)

How the condition may typically present (Klockgether et. al., 2019)

- Various SCA types – rehab mostly focus on functional aspects, types vary with
severity of symptoms (Trivago et al., 2022)

Initial features of the condition, (Klockgether et. al., 2019)

 -individuals with damage to cerebellum perform poorly in sensorimotor adaptation
programs, impaired sensor prediction error-based updating of an internal forward
model – a form of implicit learning, individuals with SCA display impariments in
implicit learning and aiming, a consequence of cerebellar dysfunction is not only
impaired sensory prediction error-based learning but also a difficulty in developing
and/or maintaining an aiming solution in response to a visuomotor perturbation, SCA
– impaired sensorimotor adaptation (Butcher et. al., 2017)

 how the condition may typically progress.

- Autosomal dominant ataxias (SCA) are classified into more than 40 subtypes
(Milne et. al., 2017)
- Cerebellum plays a crucial role in motor learning and motor sequence
learning – cerebellum also involved in shifting movt from attentionally
demanding state to more automatic state – impaired motor learning my
influence the effect of rehabilitation on motor function and ADLs in patients
with cerebellar damage (Miyai et al., 2012)
- (Ilg & Timmann, 2013)
2. advances in medical or therapeutic treatments

 Discuss the medical or therapeutic advances for this condition (consider research
within the last 5 years) and how rehabilitation services may align to parallel these
advances
- (Milne et. al., 2017)
- (He et. al., 2021)
- (Matsugi et. al., 2022)
- repetitive rehabilitative interventions focusing on balance, gait, and ADLs
may improve impairment and its related disability in spite of considerable
cerebellar dysfunction (Miyai et al., 2012)
- When individuals with cerebellar degeneration are provided with explicit
aiming strategies and visual cues to support the implementation of that
strategy they show near perfect performance in visuomotor adaptation task
(Butcher et. al., 2017)
-
3. address the psychological impacts –
 How rehabilitation clinicians can address the psychological impacts of having an
either slowly or rapidly progressing degenerative condition.
(Cassidy, E., 2018)
 Considering the above and focusing on the long-term implications and management
of this condition
(Cassidy, E., 2018)

 How might rehabilitation services improve to provide appropriate holisitic care into
the end stages of the disease process.
 how might rehabilitation services improve to provide holistic care into the end
stages of the disease process

(Ambrosi., & Ambrosi., 2022)

 4. Provide a rehabilitation plan to complement your writing.

 Demonstrate the application of principles discussed within your writing through a

rehabilitation interventional plan for a client with the chosen
degenerative neurological condition.
 Please present this as a figure or table, and this will be excluded from the word
count.

1. Introduction 5%

A clear introduction is provided, justifying the importance of the area, and indicating
direction of writing and the chosen condition. A good introduction will outline to the
reader the condition of interest, set out where current understanding sits (to be
expanded in the body of your writing), and will rationalise your work. Consider how you
will add to current understanding, and the benefits of doing so.

- Presentation and pathogenesis of condition are clearly and accurately

described with detailed account of physiological changes, demonstration of a
holistic understanding of the clincal and functional impact of the disease and
aligned to pathogenesis discussed with thorough and concise description
- Medical and/or therapeutic advances for the condition are addressed (within
the last 5 years). Forward and creative thinking is demonstrated to indicate
ow rehabilitation services my align to parallel these advances – review of
recent literature with advanced cinical reasoning and academic critique to
present how rehabilitation serves can parallel these advances and discussion
reflects a command of current practice and future innovations in the field.
Need to demonstrate forward thinking, creativity and holistic care when
aligning advances to rehabilitation.
Bhandari J, Thada PK, Samanta D. Spinocerebellar Ataxia. [Updated 2022 Aug 10]. In:
StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2022 Jan-. Available from:
https://www.ncbi.nlm.nih.gov/books/NBK557816/
- SCA is inherited (autosomal dominant) progressive, neurodegenerative
disases that mainly affects the cerebellum
- SCA is a subset of hereditary cerebellar ataxia
- 40 distinct genetic SCAs numbered 1-40, SCA1-3 and SCA 6 most common
- Global prevalence is thought to be 1-5 per 100000 but prevalence varies
according to the region
- Exact pathogenesis is not known – thought that common mechanisms are
genetic mutation causing abnormal protein products, transcriptional
dysregulation, dysfunction of autophagy, pathologies in cell communication,
mitochondrial dysfunction and toxic RNA gain of function
- Principal cell involved is purkinje which regulate fine movement and mm
coordination – hypothesis that this is diue to large cell body with abundant
 cytoplasm – dysfunctions in mitochondrial energy supply may lead to
degeneration of these cells
- Channelopathies in pre and post synaptic voltage gated calcium channels
cause release of calcium stores such as the endoplasmic reticulum and a
mitochondrial calcium influx which leads to enzyme activation and apoptosis
or Purkinje cells and impaired impulse transmission at the synaptic junction
og Purkinje cells
- Normal functioning of voltage-gated potassium channels required for
electrophysiological firing during nerve conduction
- Gross examination shoes atrophy of cerebellum and lateral ventricle enlargement –
in some SCA may also be atrophy of brainstem,, cerebral cortx and loss of pigments
from substantia niagra and grey discolouration of white mater
- Histopathology shows obvious loss of neurons mainly Purkinje cells in the
cerebellum and other parts of CNS likely pons, spinal cord, vermis, dentate nucleus,
and medulla, loss of myelin in the anterior horn of spinal cord, motor neurons of
cranial nerves in the brain stem, and axonal loss
- Onset and duration of symptoms are variable though the history of gradual onset
and slow progression over the years have a positive impact. The duration of such
progressive disease is important since it takes years to manifest in full
extent. Clinical features may vary significantly among individual members of a single-
family. There is a huge overlap of phenotypic features among the various
spinocerebellar ataxia subtypes, even within family members or interfamilial cases.
Clinical manifestation is usually more severe and early onset in pediatric and
adolescents phenotypes.

Current rehabilitation evidence (for balance and gait)

Rehabilitation for SCA is challenging because of the role of the cerebellum in motor learning
and motor adaptation (Ilg & Timmann., 2013).

Participation in meaningful life activities for people with SCA are often limited by functional
mobility and balance, with mobility correlated with quality of life, so this tends to be the
focus for rehabilitation interventions (Trivago et. al., 2022).

Interventions targeting ambulation in the early phases of the disease may be most effective,
as neuroplasticity may be more accessible at this point (Milne et. al., 2017).

Outcome measures

Psychological impacts

17-26% of people with SCA experience depression (Klockgether et. al., 2019).

How does rehabilitation address the psychological impacts? (Involve at risk family members
early)

Long-term implications of management of this condition

 - retention of exercises may depend on the continuity of exercise and long term
outcomes impacted by intensity of training at home (He et. al., 2021)

How might rehabilitation provide holistic care into the end stages of the disease process?

Rehabilitation Plan

Oms:

- assessment and rating of ataxia, FIM, gait speed, cadence, functional ambulation
category, number of falls, SARA (Miyai et. al., 2012)

- Scale for Rating and assessment of ataxia SARA – 8 item test that rates 0-40 severity
of ataxia, Berg + TUG commonly used but not assessed for reliability and validity in
SCA, The BESTest has been validated as reliable in SCA and can identify specific
postural control problems, stability limits, aniticpatory postural adjustments,
dynamic balance during gait. Can also use the GVI – gait variability index and the
brief ataxia rating scale
- It has been suggested that gait instability in SCA are characterized by a stronger
effect of balance-related impairments of cerebellar control during slow walking and
a stronger effect of impaired intra-limb coordination during fast walking. Therefore,
in clinical practice, it is necessary to evaluate not only the optimal gait speed, but
also slow walking and fast walking, to extract the characteristics of gait instability.
- Oms GAS, FIM, 10m walk test, TCA, SARA, ICARS and BESTest

(Matsugi et. al., 2022)

Rehab:

- Focus: symptom maintenance and function (Milne et. al., 2017)

- PT: emphasis on posture, gait, general conditioning, ROM exercises for trunk and
limbs, muscle strengthening, static and dynamic exercises with standing, kneeling,
sitting and quadruped standing, mobilising the spine while prone and supine, walking
indoors and outdoors, climbing up and down stairs (Miyai et. al., 2012)
- OT: improving ADLs and relaxation, hygiene, dressing, writing, eating, toileting,
bathing, balance exercises, reaching, co-operative task of ULs and trunk and dual
motor task eg handling an object whilst standing and walking (Miyai et. al., 2012)
- There is consistent evidence that rehab improves function, mobilty, ataxia and
balance in genetic degenerative ataxia, with rehab most effective early in the disease
course (Milne et. al., 2017)
- High intensity coordination training beneficial – gains of up to 1 year of natural
disease progression (Milne et. al., 2017)
 - 1 hout each of PT and OT focusing on co-ordination, balance and ADLS on weekdays
and either 1 hour ot PT or OT on weekends for four weeks (Miyai et. al., 2012)
- strengthening and balance exercises, spinal mobilization, relaxation, coordinative
and dual motor task practice, and gait, stair climbing, and activities of daily living
practice. (Milne et. al., 2017)
- Principles of neurorehabilitation such as variable practice, practice intensity, reward
during practice, and off-line skill learning (ie, during sleep) enhance motor learning
and thus should influence the design of interventions. Aerobic exercise and other
adjunct pharmacotherapies, including the utilization of neurotransmitters, dopamine
and serotonin, may further enhance neuroplasticity (Milne et. al., 2017)
- Individually tailored rehabilitation with conventional PT/OT:
o Static and dynamic exercises targeting gait, balance and coordination
o Leg cycling and core stability
o VR/video-based gaming at the correct level of challenge
o Adapted physical activity eg dancing/Tai Chi
o In-patient, out-patient, home and community training
(He et. al., 2021)

- ataxic gait is influenced by both balance-related impairments due to impaired eye

movement and deficits related to limb control and intra-limb coordination.
Degenerative diseases of the cerebellum very difficult to treat because they mipact
almost all of the cerebellum and are progressive, motor rehabilitation is challenging
because of the functional role of the cerebellum in motor learning and motor
adaptation. PT involving demanding balance . and gait tasks may result in postural
stability and less dependency on walking aids, treadmill training may be of benefit.
Intensive coordination training can be of benefit. Aim should be to train somato
sensory and vestibular inputs to preserve and retrain capacity to react to unforeseen
situations and avoid falls as much as possible
1. Static balance eg SLS
2. Dynamic balance eg sidesteps/climbing stairs
3. Complex whole body movements to train trunk-limb coordination
4. Steps to prevent falling and falls prevention strategies

- An important principle of the motor training was to train increasingly demanding

movements (from static to dynamic balance; from slow to fast movements; and from
single joint movements to complex, multi-joint coordination

(Ilg & Timmann, 2013).

- a consequence of cerebellar dysfunction is not only impaired sensory prediction error-

based learning but also a difficulty in developing and/or maintaining an aiming
solution in response to a visuomotor perturbation
- When individuals with cerebellar degeneration are provided with explicit aiming
strategies and visual cues to support the implementation of that strategy they show
near perfect performance in visuomotor adaptation task

(Butcher et. al., 2017)

 - PT focus: gait, balance, co-ordination, posture, MM strength with conventional
exercises, computer assisted training, treadmill training and biofeedback. As IP 12
hour per week of PT improves SARA and FIM scores

(Klockgether et. al., 2019)

- Rehab important for SCA as it impacts participation in social activites and impaired
QoL
- High-intensity individualised physical rehab programs for gait and balance training
may improve motor function
- Videos + tech to improve motor learning and gait stability

- Rehab should target ADLs, gait and motor dysfunction

- Therapy needs to be intensive and continuous outpatient rehabilitation programs are
important for maintaining ADLs
1. Balance training: essential for mobility and QoL, needs to be intensive, highly
repetitive static and dynamic balance and coordination combined with dual
tasking to prevent falls, needs to consider patient preferences and be enjoyable.
Needs to be specific to individual impairments, be challenging, and reperitive
o In advanced stages of the disease (i.e., no ambulation), it is necessary to
perform balance training under safe conditions (e.g., prone, supine, crawl, and
sitting positions), to prevent the decrease in physical activity. Even in
advanced stages, it has been reported that a person with degenerative ataxia
may benefit from balance training
2. Gait training: may improve spatiotemporal gait parameters (cadence,
step/length/width, gait speed) with/without a treadmill. Gait training using a
treadmill has advantages in that patients can practice a relatively large amount of
gait training over a short period and the therapists can control the speed and
incline easily. Gait training using a treadmill has been reported as a potentially
promising tool for improving adaptive locomotor adjustment in a people with
SCA. when using a treadmill in gait training, we suggest that walking be practiced
at the speed at which the gait disturbance increases (i.e., slow or fast walking
speed) for specific patients. When the fear of falling increases, the use of a harness
is recommended, to provide a safe environment for gait without the fear of falling
3. Muscle strengthening training using high intensity program Assistive technology:
the use of walking aids is a complementary method for balance and gait
impairment. In general, walking aids such as canes and walkers improve postural
stability, but their improper use increases the risk of falling walkers may be
preverable to cane due to reduced requiredment of UL co-ord Recently, a smart
walker for mobility assistance and monitoring system aid, ASBGo, was developed
and reported to improve gait parameters and postural stability in patients with
SCA. , hybrid training using robots and noninvasive brain stimulation will be
applied to the rehabilitation treatment of patients with SCA in the future. Walking
assistance dogs may improve balance
(Matsugi et. al., 2022)

- interventions should consider living/community terrain environments

PT: conventional + VR and exergaming interventions, gait control exercises aimed at

improving balance, strength, endurance and posture simultaneously + truncal stability. Co-
ordination exercises which train intralimb co-ordination have been shown to be effective in
improving cerebellar symptoms. Bodyweight supported treatment. May consider use of VR
and exergames to provide simulations of rapid environmental changes and sensorimotor
improvement. Several studies have shown that cycling is effective in improving intralimb
control. Postural training is important.

OT: aimed at improving the Qol of people with SCA. Target dressing, adls such as keyboards,
communication activities such as reading texts out loud, commenting and interpreting
verbal and textual info

Speech: swallowing exercises, dietary modification and addressing deficits in speech and
language

- Rate of annual degeneration must be matched by the beneficial gains of exercise

(Trivago et. al., 2022)

- PT/exercise participants valued building collaborative and long-term therapeutic

relationships with expert physiotherapists and were not necessarily looking to
improve ataxia related impairments
- Special attention should be given to patients perspectives in order to provide services
that are meaningful and value by people living with ataxia

- Programs need to be individualised and consider psychosocial effects of participation

and foster long term engagement
- Exercises should be enjoyable, meaningful, satisfying and appropriately challenging
- PT services should be sustained, collabortive and flexible
- Highest levels of patient satisfaction with lng-standing, open ended and ongoing
contact with specialist physiotherapists
- participants spoke of the importance of exercise as a means of doing something
positive in the face of living with a progressive and incurable condition
- out-of-doors activities were described as helping to reduce feelings of isolation and
keeping depression at bay

- physiotherapy and exercise prescription should respect the expertise and

resourcefulness of people living with ataxia, seek to understand the meaning of
exercise in the context of patients’ everyday lives, and focus on the achievement of
self-directed goals through doing enjoyable, challenging and meaningful activities. At
the same time, advice and on-going support should be offered in a flexible and
responsive manner. We argue that outcomes should comprise patient-centered and
quality of life measures that have meaning in the everyday lives of people living with
a progressive ataxia.
(Cassidy, 2018).

Intro

SCA 40 types, deteriorating balance, mobility and coordination

Reduced indep and qol

Degenerative, target qol and pall care

Pathogenisis – unknown

Rx – incurable

Ataxia – balance, mobiltyu ataxic gait

Progressive disease, complex biopsychsoc needs

Rehab challenges – potential of new technologies

Psyche impact and pall care interventions

Outcome measures

Rehabilitation Plan

PT

1. Balance training (from static to dynamic movements)

- Static balance e.g., climbing stairs
- and dynamic exercises with standing, kneeling, sitting and quadruped standing,
mobilising the spine while prone and supine, walking indoors and outdoors, side
stepping and climbing up and down stairs (Miyai et. al., 2012)
- falls prevention strategies and Dual tasking (Matsugi et. al., 2022)
2. Gait training (slow to fast movements)
- slow walking to target balance related impairments and fast walking to target
intralimb co-ordination (Matsugi et. al., 2022)
- Target spatiotemporal gait parameters (cadence, step/length/width, gait speed)
+/- treadmill training with varied speed and incline to target adaptive motor
adjustments, and the use of a harness to reduce fear of falling (Matsugi et. al.,
2022)
 3. Muscle strengthening – high intensity program with progressive increase in load. The
rate of annual degeneration should match the beneficial gains of exercise (Trivago
et. al., 2022)
- Leg cycling may also be of benefit in improving intralimb control (Trivago et. al.,
2022)
- Core stability (He et. al., 2021)
-
4. Co-ordination exercises (single joint to complex multi-joint movements)
- High intensity coordination training beneficial – gains of up to 1 year of natural
disease progression (Milne et. al., 2017)
- complex whole-body movements (Ilg & Timmann, 2013).
-

OT

Improving ADLs and relaxation, hygiene, dressing, writing, eating, toileting, bathing, balance
exercises, reaching, co-operative task of ULs and trunk and dual motor task e.g., handling an
object whilst standing and walking (Miyai et. al., 2012)

aimed at improving the Quoll of people with SCA. Target dressing, adls such as keyboards,
communication activities such as reading aloud, commenting, and interpreting verbal and
textual info (Trivago et. al., 2022)

Speech

swallowing exercises, dietary modification and addressing deficits in speech and language
(Trivago et. al., 2022)
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