Friedreich's Ataxia

Introduction

Friedreich's ataxia (FA) was first described by Nikolaus Friedreich  in 1863 [1].
FA is a neurodegenerative disease and is one of the most common autosomal
recessive ataxia diseases worldwide [2][3]. People with gene mutations
associated with FA have no symptoms at birth and for a period of time after
birth, until onset during adolescence (mean 15.5 years) [1][2]. FA is caused by
expanded guanine-adenine-adenine (GAA) triplet repeats in the frataxin gene.
This results in reduction of messenger RNA and protein levels of frataxin in
different tissues throughout the body [2][3]. Frataxin  deficiencies in FA affect the
nervous, cardiovascular, endocrine, and musculoskeletal systems [2][3]. The
disease is often associated with complex clinical and pathological changes and
slowly progresses over time [1].

Clinically Relevant Anatomy

Anatomical Structures Affected

Dorsal root ganglia: FA results in lesions of the dorsal root ganglion (DRG)
[2] [3]
. The DRG is a cluster of nerve cell bodies in the dorsal root of a spinal
nerve that contains the cell bodies of afferent sensory neurons.

Dentate nuclei: FA also causes metabolic disturbances that lead to dentate

nucleus atrophy[3]. The dentate nuclei are the largest of the deep cerebellar
nuclei, located within each cerebellar hemisphere . These nuclei are crucial
structures that link the cerebellum to other areas of the brain.
 

Spinal cord: FA results in a reduction of spinal cord diameter at all levels [2].

Within the thoracic level, thinning is more obvious and often includes lesions
of the gracile and cuneate fasciculi [2]. The gracile fasciculi are bundles of axon
fibers involved in the posterior column-medial lemniscus pathway , carrying
afferent sensory information from the middle thoracic and lower limbs. The
cuneate fasciculi transmit sensory information from the upper limbs.
Additionally, FA also leads to fibre loss in
the spinocerebellar  and corticospinal  tracts[2]. The spinocerebellar tract carries
proprioception and cutaneous information to the cerebellum for coordination
of movement. The corticospinal tract originates from the cerebral cortex and
controls motor function in lower and upper limbs.

Pathological Process
FA is an autosomal-recessively inherited disorder, meaning that both
biological parents must carry the trait [1][4]. 95% of people diagnosed with the
disorder are homozygous for unstable guanine-adenine-adenine expansion in
the first interon of the frataxin gene on chromosome 9q21 [1]. The other 5% of
people diagnosed are compound heterozygotes with an expansion on one
allele and conventional mutations on the other [1]. In both cases, the mutation
interferes with the transcription of frataxin gene , and results in a frataxin
deficiency [2][3][4]. Frataxin is a protein associated with the inner mitochondrial
membrane, which is essential for normal cell functioning [1][2][3]. Mitochondrial
function is critical for processes such as energy metabolism, maintenance of
the membrane potential, calcium metabolism, correct protein folding, axonal
transport and synaptic transmitter homeostasis [1]. Within the mitochondrial
membrane, frataxin is used to move iron and form iron-sulfur clusters.
Inadequate frataxin results in iron accumulation, which leads to degenerative
 changes in the spinal cord, dorsal root ganglia and cardiovascular system [3].
The dorsal root ganglia are the first structures to experience degenerative
changes[1]. Throughout the degenerative disease process, axonopathy begins to
impact structures such as the dorsal columns, cuneate and gracile nuclei,
dorsal nuclei of Clarke, spinocerebellar and corticospinal tracts [1][2][3]. The
cerebellum is also affected, with lesions occurring to the dentate nuclei and
superior cerebellar peduncles [1]. As previously mentioned, spinal cord
diameter decreases over time, especially in the thoracic region [2]. Eventually,
patients with FA will develop hypertrophic cardiomyopathy as the
mitochondrial changes lead to fibrosis, inflammation, scarring and
accumulation of iron in the left ventricle of the heart [1][3].

Epidemiology
FA is the most common inherited ataxia [5]. Due to a unique gene mutation, the
disease rarely occurs in non-caucasians [1][6]. Approximately 1 in 50 000
caucasians are affected [7]. The point prevalence is estimated to be as high as
3/100,000[8]. FA is a disease that affects young individuals, as the onset of
symptoms typically occurs before the age of 20 [8]. In a large FA clinical study
(n=115), a fifth of patients were under 5 years old at disease onset [9]. FA
appears to affect males and females equally [2].

Clinical Presentation
FA is a progressive neurodegenerative disease. Therefore, the severity of
symptoms will vary depending on the disease stage. The hallmark clinical
feature is ataxia, likely due to degenerative atrophy of the posterior columns
of the spinal cord and loss of peripheral sensory nerve fibres. To a lesser
extent, cerebellar atrophy occurs and contributes to ataxia [6]. Ataxia is
characterized as lack of muscle control and reduced coordination of voluntary
movements.

Early Symptoms[2]:

 Scoliosis
 Unsteadiness of gait and/or difficulty walking (ataxia)
 General clumsiness (ataxia)
 Cardinal Clinical Features [1][2][6][8]:

 Progressive ataxia of gait and limbs (mixed cerebellar and sensory type)

 Dysarthria
 Extensor plantar responses (Babinski sign )
 Peripheral neuropathy
 Absent lower extremity reflexes
 Reduction or loss of proprioception  and vibration sense
 Muscle weakness (more pronounced in lower extremity)

Secondary Clinical Features [1][2][6][8]:

 Cardiomyopathy
 Scoliosis
 Pes cavus
 Diabetes
 Depression
 Deafness
 Various visual problems (nystagmus, ptosis, optic atrophy which may
lead to blindness)

Prognosis
FA is an early onset, slowly progressing neurodegenerative disorder. Early
signs of FA include an unsteadiness of gait, general “clumsiness”, and
scoliosis [1][2][6]. Disease progression and onset of clinical features can be
variable. Ataxia (truncal and limb), lower extremity weakness, and sensory
loss is progressive and gradually extends from distal to proximal [6][8]. Typically,
patients become wheelchair bound between 11-15 years after disease
onset [9] due to lower extremity muscle weakness, truncal ataxia, and limb
ataxia[1][6]. Dysarthria  becomes apparent at 2 years of disease onset and slowly
progresses [6]. Additionally, approximately 10% of individuals with FA develop
diabetes, further complicating their disease status [6].

Cardiac involvement, specifically cardiomyopathy, combined with disease

onset before age 20 is associated with a faster disease progression [1]. The most
common cause of death is cardiomyopathy [8]. Life expectancy is decreased and
death occurs at an average age of 37.5 +/- 14.4 years [8]. There is currently no
cure for FA.
 Diagnostic Procedures

The gold standard for diagnosing FA is molecular testing [10]. The disease is
truly confirmed by testing for expansions or mutations in the FXN (frataxin)
gene[11]. However, the following clinical diagnostic criteria may be used to
assist in the diagnosis of FA.

The first set of diagnostic criteria most commonly used was developed in 1976
by the Quebec Cooperative study of Friedreich’s Ataxia (QCSFA) [12].

This criteria states that the following must be met 100% of the time to
confirm a diagnosis of FA [12]:

1. Onset before the end of puberty but not over 20 years old
2. Gait ataxia
3. Progression of ataxia within the last two years with no remission
4. Dysarthria
5. Decreased vibration and/or position sense in lower extremity
6. Muscle weakness
7. Lower extremity deep tendon areflexia

This criteria also states that the following symptoms are present in 90% of
cases but are not necessarily required for diagnosis [12]:

1. Babinski sign
2. Pes cavus
3. Scoliosis
4. Cardiomyopathy

The second diagnostic criteria was developed after the QCSFA. The Harding
Criteria are as follows [10]:

This criteria states that the following must be met 100% of the time to
confirm a diagnosis of FA [10]:

1. Onset ~25 years of age

2. Ataxia that is progressive
3. Lower extremity deep tendon areflexia
4. Dysarthria  after 5 years
5. Babinski sign   
6. Absent/small sensory action potentials in the upper extremity with
motor nerve conduction velocity >40m/s

Although the gold standard for diagnosing FA is genetic testing, these criteria
can still be used in clinic for highly probable diagnosis and eligibility for
referral and/or genetic screening. The accuracy of these clinical diagnostic
criteria were examined and the sensitivity for both yielded 63%, the specificity
for the QCSFA was 98% and 96% for the Harding Criteria [10].     

Outcome Measures
The following outcome measures can be used to assess the progression and/or
regression of conditions associated with FA. Please note that this is not an
exclusive list of the only appropriate outcome measures nor are they
necessarily the best depending on the unique symptoms of the patient.  

For Ataxia

1. International Cooperative Ataxia Rating Scale  (ICARS): developed to

determine the level of impairment from ataxia related to genetics.
2. Scale for the Assessment and Rating of Ataxia  (SARA): similar scale to
the ICARS to assess ataxia but shorter to administer.
3. Friedreich’s Ataxia Rating Scale  (FARA): assessment for ataxia specific
to FA.

For Gait

1. 6 Minute Walk Test : assesses aerobic capacity and gait.

2. Timed Up and Go  (TUG): assesses fall risk, balance and gait.
3. Goal Attainment Scale : individualized outcome measure to assess the
extent the patient meets their various goals.

For Balance

1. Berg Balance Scale : useful in early stages when individual is not yet
using a wheelchair.
2. Timed Up and Go  (TUG): assesses fall risk, balance and gait.
3. Pediatric Balance Scale : used to assess balance in everyday tasks of
adolescents specifically.
4. Goal Attainment Scale : individualized outcome measure to assess the
extent the patient meets their various goals.

For Independence/Activities of Daily Living

1. Functional Independence Measure : measure of physical, psychological

and social function.
2. Goal Attainment Scale : individualized outcome measure to assess the
extent the patient meets their various goals.

Others

1. Child Occupational Self-Assessment  (v 2.2): a self-report measure for

how competent children and adolescents feel completing every day activities
and how much value they place on these activities, ages 6-17.
2. Depression Anxiety Stress Scale : can be used in later stages of the
disease to assess potential symptoms of depression, anxiety and stress.

Management

Management Strategies for Treatment of FA

[13]

Management of Ataxic Symptoms

Management of Freidreich’s ataxia follows a symptom-management approach,
delivered by an interdisciplinary team [13]. Clinical management guidelines
suggest that physical therapy may be beneficial in treating the neurological
components of FA.  Physical therapy has been shown to improve or maintain
balance, flexibility, strength, and accuracy of limb movements in patients with
FA[14]. An appropriate exercise program may also be effective in prolonging
independent ambulation and reducing falls in this population [14]. Furthermore,
the effects of a physiotherapy intervention for patients with FA have been
shown to continue after completion of the program, suggesting more than
only short-term benefits [15]. Additional research is required to determine the
intensity, type, and length of rehabilitation program necessary to achieve
positive results in this specific population.  Until there is a greater body of
evidence to guide physical therapy interventions for FA, physical therapists
may refer to the literature for the treatment of cerebellar ataxias in general. 
The most frequently reported interventions for these disorders include
proprioceptive neurofacilitation, balance retraining, and Frenkel exercises  to
encourage control of voluntary movements [16].  Benefits of physical therapy
interventions for cerebellar ataxias include improvements in gait and trunk
control and a decrease in activity limitations [16].  In addition, aerobic exercise
may help to decrease weakness and fatigue in those with degenerative
cerebellar ataxias [17].  These benefits could be important in patients with FA
exhibiting cardinal symptoms such as unsteadiness and gait abnormalities.

Management of Foot Deformities

The foot deformities associated with FA can exacerbate gait abnormalities and
unsteadiness.  It is suggested that deformities be prevented through early
provision of physiotherapy, splinting, and botulinum toxin injection .  When
conservative methods are ineffective in managing foot deformities, more
aggressive surgical interventions are warranted [18].

Management of Scoliosis

See Physiopedia page Scoliosis: Physical Therapy Management .

Management of Dysarthria
Speech and swallowing difficulties are common in patients with FA. It is
recommended that patients seek speech language therapy to improve speech
generation, learn alternative modes of communication, and receive therapy to
facilitate swallowing [13].

Management of Cardiomyopathy

Cardiomyopathy associated with FA may be managed medically through

antioxidant administration, idebenone treatment (with inconsistent results),
and conventional methods such as heart failure drugs, antiarrhythmic drugs,
and device implantations [19].

Differential Diagnosis
The symptoms associated with FA are often similar to other early onset,
progressive ataxias.  However, it is the unique cardinal symptoms of FA that
differentiate this disorder. In some cases, FA can be differentiated from other
progressive cerebellar ataxias by testing for absence of lower limb reflexes [20].
Other symptoms such as cardiomyopathy, optic atrophy and severe scoliosis
may also be specific indications of FA [20].

Despite the unique cardinal signs of FA, making a differential diagnosis can
still be challenging in some cases. For example, sensory ataxia and absent
deep tendon reflexes are also present in the Roussy-Levy variant of Charcot-
Marie Tooth disease [21].  Specific nerve conduction tests are required to
differentiate between these conditions. Another specific disorder that may
present similarly to FA is AVED (ataxia with isolated vitamin E deficiency), an
autosomal disorder that results in progressive spinocerebellar symptoms [22].
Clinical indicators such as gait and limb ataxia, dysarthria, areflexia, sensory
loss, and foot deformities may appear very similar to FA. However, the
neuropathic symptoms in AVED are central and often paired with titubations,
which are characteristics rarely seen in classical FA [21].

Due to the many similarities between FA and other ataxias, molecular testing
methods should be used to achieve an accurate diagnosis [10].

Resources
Click here for more information and resources regarding FA.

Click here to learn more about current research aimed at finding a cure for
FA.

Related articles
Gastrocnemius and soleus spasticity and muscle length in Friedreich’s ataxia
– Physiospot – Physiotherapy and Physical Therapy in the Spotlight Lower limb
spasticity compromises the independence of people with Friedreich’s ataxia (FRDA).
This study sought to examine lower limb spasticity in FRDA in order to offer new
insight as to the best approach and timing of spasticity management. Gastrocnemius
and soleus spasticity and muscle length were measured by the Modified Tardieu Scale
(MTS) in 31 participants with typical and late-onset FRDA. Relationships between the
MTS and the Friedreich Ataxia Rating Scale (FARS), Functional Independence Measure
(FIM), and disease duration were analysed. Differences between ambulant (n=18) and
non-ambulant (n=13) participants were also examined. All participants had spasticity in
at least one muscle, and 38.9% of ambulant and 69.2% of non-ambulant participants
had contracture in one or both of their gastrocnemius muscles. Significant negative
correlations were found between both gastrocnemius and soleus angle of catch and the
FARS score. The FIM score also demonstrated significant correlations with
gastrocnemius muscle length and angle of catch. Gastrocnemius and soleus spasticity
and contracture is apparent in people with FRDA. Spasticity is evident early in the
disease and in ambulant participants. Management of spasticity and reduced muscle
length should be considered in people with FRDA at disease onset to optimise
function. Ataxia - Physiopedia Introduction Ataxia, defined as impaired coordination
of voluntary muscle movement, is a physical finding, not a disease, and the underlying
etiology needs to be investigated. Ataxia can be the patient’s chief complaint or a
component among other presenting symptoms. Ataxia is usually caused by cerebellar
dysfunction or impaired vestibular or proprioceptive afferent input to the cerebellum.
Ataxia can have an insidious onset with a chronic and slowly progressive clinical course
(eg, spinocerebellar ataxias of genetic origin) or have an acute onset, especially those
ataxias resulting from cerebellar infarction, hemorrhage, or infection, which can have a
rapid progression with catastrophic effects.[1] Ataxia is manifested by a wide-based
unsteady gait, errors of extremity trajectory or placement, errors in motor sequence or
rhythm and/or by dysarthria. Tone is usually decreased and stretch reflexes may be
“pendular.” Nystagmus, skew deviation, disconjugate saccades, and altered ocular
pursuit can be present. Truncal instability and tremor of the body or head may occur,
especially with cerebellar midline disorders.[2] This 3 minute video is very informative
[3] Clinically Relevant Anatomy Ataxia is usually caused by cerebellar dysfunction or
impaired vestibular or proprioceptive afferent input to the cerebellum.  Any of the
following can be implicated in pathology. Cerebellum, spinal cord, brain stem,
vestibular nuclei, basal ganglia, thalamic nuclei, cerebral white matter, cortex
(especially frontal), and peripheral sensory nerves. [2] Classification of Disorders
Causing Ataxia Ataxia is a manifestation of a variety of disease processes, and an
underlying aetiology needs to be investigated. Pure ataxia is rare in acquired ataxia
disorders, and associated symptoms and signs almost always exist to suggest an
underlying cause. The spectrum of hereditary degenerative ataxias is expanding
Attention should be addressed to those treatable and reversible etiologies, especially
potentially life-threatening causes. Mass Lesions eg medulloblastoma, cystic
astrocytoma, hemangioblastomas, and metastatic processes. Vascular Disorders eg
Hemorrhage or infarction of cerebellum Infectious and Post-infectious Processes eg
Bacterial cerebellitis can occur with meningitis, penetrating trauma or extension of an
epidural process, most commonly from temporal bone; Prion-associated
encephalopathies include sporadic Creutzfeldt-Jakob disease (sCJD); Acute cerebellitis
(acute cerebellar ataxia) is a para-infectious disorder; Fisher syndrome, a Guillain-
Barré variant, involves the peripheral and central nervous system. Trauma Gait
instability may persist following cerebellar, vestibular, brain stem, or frontal lobe injury
or with interruption of the frontopontocerebellar tract. In acute trauma, or progressive
post-traumatic ataxia, an expanding cyst or extra-axial hematoma should be
considered. Demyelinating Disorders Ataxia is common in early and late multiple
sclerosis. Congenital Disorders eg. Machado-Joseph Disease (Spinocerebellar Ataxia
Type 3), Dandy Walker Syndrome; Joubert syndrome; Ataxia can also occur with
perinatal cerebral infarction and with congenital CNS infection. Hereditary and
Idiopathic Degenerative Processes Hereditary ataxias are classified by the causative
gene (when known) and their pattern of inheritance. eg spinocerebellar ataxias;
Huntington Disease; Friedreich's ataxia; Fragile X tremor/ataxia syndrome; Multiple
system atrophy (MSA) is a sporadic disorder that initially manifests after age 50 by
ataxia (MSAc); Parkinsonism; Mitochondrial disorders are also associated with
progressive ataxia. Paroxysmal Disorders Associated with Ataxia Intermittent ataxia has
been associated with epilepsy, migraine, and high systemic fever in otherwise healthy
children. Intermittent ataxia can also be associated with abnormalities in membrane
calcium or potassium channel function, or with altered synaptic glutamate transport.
Spinal Cord and Peripheral Nerve-Related Ataxia Spinal cord and/or nerve root
disorders can produce ataxia. Nutritional Deficiency, Toxins and Drugs Solvent abuse
or toxic exposure to solvents, methyl-mercury poisoning (Minamata disease),
metronidazole (Flagyl)-induced cerebellar toxicity, central pontine myelinolysis
(osmotic demyelination syndrome), leukoencephalopathy relating to the inhalation of
heroin vapors, vitamin E deficiency, Alcoholism, Wernicke encephalopathy, and
reversible posterior leukoencephalopathy can each be associated with the acute or
chronic presentation of ataxia.[2] Clinical Presentation Ataxia is usually caused by
cerebellar dysfunction or impaired vestibular or proprioceptive afferent input to the
cerebellum. Ataxia can have an insidious onset with a chronic and slowly progressive
clinical course (eg, spinocerebellar ataxias of genetic origin) Ataxia can have an acute
onset, especially those ataxias resulting from cerebellar infarction, haemorrhage, or
infection, which can have a rapid progression with catastrophic effects. Ataxia can also
have a subacute onset, as from infectious or immunologic disorders, which may have a
limited window of therapeutic opportunities[1] Symptoms and signs are often related to
the location of the lesions in the cerebellum. Lateralized cerebellar lesions cause
ipsilateral symptoms and signs, whereas diffuse cerebellar lesions give rise to more
generalized symmetric symptoms. Lesions in the cerebellar hemisphere produce limb
(appendicular) ataxia. Lesions of the vermis cause truncal and gait ataxia with limbs
relatively spared. Vestibulocerebellar lesions cause disequilibrium, vertigo, and gait
ataxia. Acute pathology in the cerebellum may initially produce severe abnormalities;
this may recover remarkably with time and can become asymptomatic even when
imaging shows persistent dramatic structural changes in the cerebellum. Chronic
progressive ataxia is not only due to neurodegenerative or inherited cerebellar diseases
but also neoplasms and chronic infections. Common Symptoms of Ataxia are Lack of
coordination Slurred speech Trouble eating and swallowing Deterioration of fine motor
skills Difficulty walking Gait abnormalities Eye movement abnormalities Tremors Heart
problems Terms Describing Ataxia. Physiotherapists should be familiar with the specific
ataxia terms and use them appropriately in documentation and communication with
colleagues. It is important to understand the nomenclature because it often implies a
certain ataxic disorder. Stance. An impaired stance in the absence of motor weakness or
gross involuntary movements is suggestive of cerebellar ataxia or sensory ataxia. Gait
ataxia. Gait ataxia results from incoordination of the lower extremities due to cerebellar
pathology or loss of proprioceptive input. Patients often feel insecure and have to hold
onto the wall or furniture and walk with feet apart. An increased gait disturbance when
visual cues are removed (walking with eyes closed or in the dark) suggests a sensory or
vestibular component to the ataxia. With cerebellar causes, the gait ataxia remains the
same regardless of visual cues. Sensory ataxia. Sensory ataxia is mainly reflected by gait
disturbance. Subjects with sensory ataxia will have a positive Romberg sign. Subjects
may walk with a high-stepping gait (due to associated motor weakness) or feet-slapping
gait (to assist with sound-induced sensory feedback). Truncal ataxia. Patients may
present with truncal instability in the form of oscillation of the body while sitting
(worse with arms stretched out in front) or standing (titubation). Limb ataxia.  Limb
ataxia is often used to describe ataxia of the upper limbs resulting from incoordination
and tremor and can be better described by functional impairment, such as clumsiness
with writing,buttoning clothes, or picking up small objects. The patient has to slow
down the movement to be accurate in reaching things. Limb ataxia can be lateralized
with ipsilateral cerebellar lesions.
Dysdiadochokinesia/dysrhythmokinesis.Dysdiadochokinesia/dysrhythmokinesis is
tested by rapidly alternating hand movements or tapping the index finger on the thumb
crease. Impairment can be seen with irregularity of the rhythm and amplitude.
Intention tremor. Intention tremor results from instability of the proximal portion of
the limb and is manifested by increasing amplitude of oscillation at the end of a
voluntary movement. It is often tested by finger-to-nose and heel-to-shin maneuvers.
Dysmetria. The patient misses the targeted object either due to overshoot (hypermetria)
or undershoot (hypometria). Dysmetria is often tested by a finger-chasing test and can
be quantified by the distance (cm) that is missed. Dysarthria/scanning speech. Often
described by the patient or relatives as slurred speech. The patient’s speech is irregular
and slow with unnecessary hesitation. Words are often broken into separate syllables
Nystagmus. Often occurs in cerebellar disease. Lateral gaze-evoked nystagmus is seen
by slow drift toward midline followed by a fast phase of saccades to the eccentric
position. Upbeat and downbeat nystagmus are defined by the rapid phase in the up or
down direction. Saccades. Saccade speed is typically normal in cerebellar disease but
often an overshoot or undershoot (ocular dysmetria) is present, and is often followed by
a corrective saccade in the appropriate direction.[1] Diagnostic Procedures Ataxia is
diagnosed using a combination of strategies that may include medical history, family
history, and a complete neurological evaluation. Various blood tests may be performed
to rule out other disorders. Genetic blood tests are available for many types of
hereditary Ataxia.[4] Treatment The goal of Ataxia treatment is to improve the quality
of life and requires an individualized approach. Speech and language therapy,
occupational therapy, and physical therapy are common treatment options. They are
sometimes used in conjunction with medication therapy to manage symptoms. Many
research efforts are currently underway to find more effective treatments for Ataxia.  
Staying active for as long as possible is an important part of the treatment plan for
people with Ataxia. Physiotherapy NB This describes the broad approach. look to
individual conditions in physiopedia links for expansion (see above under causes)
Rehabilitation for people with ataxia may adopt a compensatory or restorative
approach. Compensatory approach - includes orthotics and devices, movement
retraining, reducing the degrees of freedom and optimising the environment. Valuable
for teaching people practical, everyday strategies and ways of managing the condition.
It may be particularly important for those with severe upper limb tremor. Restorative
approaches aim to improve function by improving the underlying impairment. Despite
cerebellar damage, some improvement in symptoms can occur with practice in people
with chronic and progressive conditions. Physiotherapists will employ a combination of
restorative and compensatory approaches guided by the patient’s clinical presentation
and context. Rehabilitation Physiotherapy can improve gait, balance and trunk control
for people with ataxia, and can reduce activity limitations and support increased
participation. The prevention of falls is important to consider in patients with
progressive ataxia given their high frequency and fall-related injuries being common.
Careful assessment is required to avoid falls. For people with cerebellar dysfunction,
dynamic task practice that challenges stability, explores stability limits and aims to
reduce upper-limb weight bearing seems an important intervention to improve gait and
balance. Strength and flexibility training may be indicated. Therapeutic equipment is
often provided to support function. Intensity of training seems to be important as
studies have shown that higher training intensities are associated with greater
improvements in clinical outcome.[5] There is some evidence to suggest that
improvement is greater in people with less severe ataxia and it is also related to the
ability to learn the task.[5] Targeted coordination and gait training over a four-week
period resulted in improvements in people with cerebellar ataxia as measured by the
Scale for the Assessment and Rating of Ataxia (SARA ) that was sustained after one
year. Daily training improved outcome. This particular training showed a more
sustained improvement in people with cerebellar dysfunction compared to people with
afferent ataxias such as Friedreich’s ataxia and sensory ataxic neuropathy.[5] Balance
training exercises undertaken in front of standardised moving visual images resulted in
improvements in balance scores in some patients with SCA6 (a pure cerebellar ataxia)
in a pilot trial but results were mixed.[5] Specific Interventions for Balance and Gait I.
Video-game based coordinative training eg Intensive coordination training using whole-
body controlled videogames can be an effective and motivational therapy for children
with progressive ataxia II. Treadmill training Treadmill training can be an effective
intervention for people with ataxia due to brain injury. Intensity and duration of
training seem to be significant factors. Consistent intensive training over many months
combined with over-ground training may be required. This intervention has not been
tested in people with progressive ataxias. III. Visually guided stepping Oculomotor and
locomotor control systems interact during visually guided stepping in that the
locomotor system depends on information from the oculomotor system during
functional mobility for accurate foot placement. Marked improvements in oculomotor
and locomotor performance have been seen following eye movement rehearsal in a
small study in patients with mild cerebellar degeneration. Rehearsal of intended steps
through eye movement alone, i.e. looking at foot target placement for each step, before
negotiating a cluttered room, might improve performance and safety. This simple
strategy, although task specific and short lived in nature, is promising and relatively
quick and easy to apply in a functional setting.[5] IV. Balance and mobility aids No
studies have specifically evaluated the role of balance and mobility aids for people with
ataxia. Clinical experience suggests walking aids should be considered on a case-by-case
basis. In terms of postural control, somatosensory cues from the fingertips – using light
touch contact or a walking aid as a means of balance – can provide a powerful reference
orientation even when contact force levels are inadequate to provide physical support
for the body. Some individuals with ataxia find light touch contact more useful as a
strategy than a conventional walking aid. Walking aids also have the potential to
compromise the ability to respond to balance disturbances through impeding lateral
compensatory stepping and can thus affect safety, hence ensure the appropriate walking
aid is recommended for each patient.[5] Specific Interventions for Spasticity
Physiotherapy has a vital role to play in educating patients and carers in correct
posture, muscle use and the avoidance of spasticity triggers such as pain and infection.
Muscle lengthening to maintain and improve range of movement and prevent the
formation of contractures. eg physical exercises which antagonize the overactive spastic
muscle and also improve muscle strength; passive stretching by the therapist or carer;
or physical positioning techniques. Active exercise is generally more effective than
passive exercise if the patient is able; increased fitness can also reduce fatigue and
permit further exercises. Positioning eg splinting, casting, orthoses, standing or the use
of weights, resistive devices, wedges, cushions or T-rolls. More prolonged splinting can
involve firm materials such as metal or plastic, or softer supportive materials such as
foam or sheepskin. Orthoses should be of good quality, well-fitted and prepared by a
specialist.[5] Exercise In general people with ataxia should be encouraged to exercise as
part of health promotion (as long as risk factors and health and safety considerations
have been assessed). Exercise should be tailored towards what appeals most to
participants and may involve exploring several different options as well as building
motivation and sustainability into the exercise prescription. eg hydrotherapy, general
fitness training.[5] Wheelchair Seating Wheelchairs rank among the most important
therapeutic devices used in rehabilitation and can make the difference between an
active and efficient alignment and a postural catastrophe. Despite a lack of research
studies, clinical observation suggests that powered wheelchair mobility with
appropriate postural support is an option to provide people with ataxia with a means of
independent mobility.[5] Scale for the Assessment and Rating of Ataxia (SARA) -
Physiopedia Objective SARA is a clinical scale developed by Schmitz-Hübsch et al
which assesses a range of different impairments in cerebellar ataxia. The scale is made
up of 8 items related to gait, stance, sitting, speech, finger-chase test, nose-finger test,
fast alternating movements and heel-shin test.[1] Schmitz-Hübsch et al developed the
Scale for the Assessment and Rating of Ataxia (SARA) as an alternative to The
International Cooperative Ataxia Rating Scale (ICARS). The daily use of ICARS scale in
ataxic patients is difficult due to its many assessment items.[2] This new assessment
tool has fewer assessment items than the ICARS and therefore has the advantage of
easier daily assessment of ataxia. [3] Intended Population Currently, the following types
of Ataxia have been investigated: Spinocerebellar Ataxia[3][4][5] Ataxic Stroke [6]
Friedreich’s Ataxia [7] [8] Method of Use The SARA is a tool for assessing ataxia. It has
eight categories with accumulative score ranging from 0 (no ataxia) to 40 (most severe
ataxia). When completing the outcome measure each category is assessed and scored
accordingly. Scores for the eight items range as follows: Gait (0-8 points), Stance (0-6
points), Sitting (0-4 points) Speech disturbance (0-6 points) Finger chase (0-4 points)
Nose-finger test (0-4 points) Fast alternating hand movement (0-4 points) Heel-shin
slide (0-4 points) Once each of the 8 categories have been assessed, the total is
calculated to determine the severity of ataxia. For motor activities of the four
extremities (items 5-8), assessments are performed bilaterally, and the mean values are
used to obtain the total score. [9] Evidence Spinocerebellar Ataxia Concurrent validity -
Subramony et al found the SARA scale had excellent concurrent validity with the
Barthel Index or with Unified Huntington’s Disease Rating Scale [10] Inter/Intra rater
reliability - Schmitz-Hübsch et al found the SARA scale to have high inter/intra rater
reliability[3] Ataxia in non Spinocerebellar patients Freidreichs Ataxia Construct
validity: - Saute et al found the SARA had excellent construct validity with International
Cooperative Ataxia Rating Scale (ICARS) and with Friedreich’s Ataxia rating Scale [8]
Ataxic Stroke patients Kim et al found that SARA corresponds well with gait
assessments and functional impairments. The scale showed correlation with the Korean
Modified Bartel Index and Berg Balance Scale [6] Fragile X Tremor/Ataxia
Syndrome - Physiopedia Definition  Fragile X-associated tremor/ataxia syndrome
(FXTAS) is a late-onset (> 50 years) neurodegenerative disorder caused by a gene
mutation of 55 to 200 repeating CGG (cytosine, guanine, guanine) trinucleotide
sequences in the FMR1 gene (fragile X mental retardation 1) [1]. The most common
symptoms are action tremor and gait ataxia [2]. Full mutations (greater than 200 CGG
repeats) cause fragile X syndrome, which is a common form of mental retardation [3].
Prevalence & Risk Factors The current estimation is that 1 in 259 females and 1 in 813
males are carriers of the FXTAS premutation gene [3]. The occurrence of female
carriers who go on to develop the syndrome is only 4% (very low compared to male
carriers), however, this rises to 8% in female carriers older than 50 [4]. In addition, the
overall presentation of symptoms is less severe in female patients with FXTAS than it is
in males [1]. Out of the male carriers of the gene, 17% in their 50s, 38% in their 60s,
47% in their 70s and 75% in their 80s will develop symptoms [4]. The average age of
onset is 60.2 (+/- 7.2), however, a greater number of CGG repetitions are associated
with an earlier age of onset of symptoms [1]. The most significant risk factor for FXTAS
is possessing the fragile X (FMR1) gene mutation [1]. Patients with a family history of
fragile X or who are known to have the FMR1 premutation carry a high risk of
developing symptoms [1]. Males are also at increased risk, as the disease is far less
prevalent and less severe in females [1]. Cognitive deficits are not present in all carriers,
however, age and repeat size are positively correlated with executive function deficits,
the predominant cognitive dysfunction [5]. Clinical Presentation The clinical
presentation for FXTAS is non-specific which causes this syndrome to be under-
diagnosed [1]. Common symptoms in FXTAS patients are intention tremor and ataxic
gait, as well as parkinsonism, neuropathy cognitive decline (executive function deficits
and dementia) and psychiatric features [1][3]. Unlike the full mutation, fragile X
syndrome, individuals with FXTAS will most commonly have normal intelligence [3].
Some patients (approximately 25%) will have physical deformities and emotional
difficulties [3]. Female patients with FXTAS will often have a slightly different
presentation than male patients. Premature ovarian failure is a clinical symptom
reported in approximately 20% of women with FXTAS [3]. Females are also more likely
to develop mental health problems including depression and anxiety as a result of this
syndrome [1]. Male carriers, however, are more likely to develop severe motor deficits,
social difficulties and obsessive thinking [1]. Cerebellar ataxia and intention tremor are
the principal characteristics of FXTAS; these are the most pronounced and often first
noticed symptoms, especially in men who developed symptoms over the age of 50 [1]
[2]. With cerebellar ataxia, patients exhibit a slow gait that involves lurching and
difficulty with tandem stance [1]. Intention tremors are the most common type of
tremor in FXTAS patients, although sometimes a resting tremor will develop [1]. Other
symptoms are variable and can include parkinsonism, autonomic dysfunction, lower
limb muscle weakness and peripheral neuropathy [3]. Peripheral neuropathy leads to
reduced reflexes and decreased sensation of vibration in the lower limbs [1].
Specifically, the most commonly reported symptoms are - gait difficulties, impaired fine
motor skills, writing impairments, muscle weakness, incontinence, and numbness and
pain in the lower extremities [3]. FXTAS is also associated with cognitive deficits; in the
initial stages, patients may experience a reduction in working memory and executive
functions [1]. More advanced cognitive deficits are often interpreted as dementia in the
later stages [1]. Changes in behavior and personality may also occur [1]. Diagnostic
Procedures FXTAS can be diagnosed using a combination of clinical and radiological
(MRI) signs, or by neuropathological analysis of brain tissue [6]. The following table
summarizes the common symptoms used for diagnosis of FXTAS [6]. Major Symptoms
Minor Symptoms Radiological Symptoms 1a. MRI: lesions of white matter of the middle
cerebral peduncle or MCP sign* 2a.Neuropathology: FXTAS inclusions in brain cells 1b.
MRI: lesions of cerebral white matter 2b. MRI: general brain atrophy (moderate to
severe) Clinical Symptoms 3a. Intention tremor 4a. Ataxic gait 3b. Resting tremor
(parkinsonism) 4b. Unusual short-term memory problems (ie. rapidly declining) 5b.
Decreased executive function  *The MCP sign is seen in T2 MRIs where high resonance
appears at the middle cerebral peduncles [1]. A definite diagnosis of FXTAS requires
radiological/neuropathological investigation, and therefore cannot be diagnosed by a
physiotherapist using clinical symptoms alone [6]. A diagnosis of FXTAS may be
considered definite, probable, or possible based on the following definitions [6]. A
patient can be diagnosed with definite FXTAS if the following is present: One major
radiological symptom (1a or 2a) AND one major clinical symptom (3a or 4a) If brain
cells contain FXTAS inclusions (2a) A patient has probable FXTAS if the following is
present: Two major clinical symptoms (3a AND 4a) ...or... One minor clinical symptom
(3b, 4b or 5b) AND one major radiological symptom (1a or 2a) A patient has possible
FXTAS if the following is present: One major clinical sign (3a or 4a) AND one minor
radiological symptom (1b or 2b) Medical Management Treatment of Tremor Propanolol
(beta-blocker) and Primidone are commonly used to treat essential tremor (ET) and are
the most likely contender to treat tremors in FXTAS [4]. Due to the lack of controlled
studies on FXTAS, literature about ET treatment is used as a guide. Botolinum Toxin
(BTX) has recently been used on a trial basis with an FXTAS patient who had a
disabling arm tremor [4]. The patient experienced significant functional improvement,
with the most benefit being 4-6 weeks after injection and lasting on average three
months [4]. Further research with controlled trials is required. In controlled trials of
BTX being used to treat ET, some cases resulted in a significant decrease in tremor
amplitude [4]. Treatment of Ataxia Subjective improvements have been observed with
the use of carbidopa/levadopa, dopamine agonists and eldepryl in individuals with gait
abnormalities and parkinsonism. Amantadine and buspirone have also been
successfully used to treat ataxia, although there is no universally effective treatment for
cerebellar ataxia [4]. These medications are unfortunately not tolerated well in ataxia
patients [4]. Physical therapy however, can improve strength and gait in patients with
ataxia and is typically well tolerated [4]. Treatment of Cognitive Deficits Cognitive
impairment due to FXTAS is treated using dementia pharmaceuticals, traditionally used
for Alzheimer’s disease [4]. Aerobic exercise can modify cognitive function in patients
with Alzheimer’s disease, which can likely be extrapolated to other neurodegenerative
conditions, such as FXTAS [4]. Treatment of Pain Neuropathic pain is common,
specifically in the lower extremities, for both men and women and fibromyalgia pain is
common for women with FXTAS [4]. Antidepressants, antiepileptics and topical
analgesics have been effectively used as treatment [4]. Peripheral neuropathic pain in
the lower extremities can be reduced by the application of a Liboderm patch [4].
Physical Therapy Management There is minimal literature published on physical
therapy treatment for FXTAS and best practices have yet to be fully researched and
defined [7]. Usually, physical therapy is used to treat individualized symptoms and
addresses the functional limitations while sustaining, or even improving, fitness levels
[7]. Of significant importance is maintaining strength and preventing falls, due to
increasing ataxia and parkinsonism traits [7]. FXTAS manifests itself differently in each
person affected, meaning therapeutic intervention is mainly at the individual case level;
however, there is evidence to support body-weight-supported treadmill training and
exercise in general for reducing depression, anxiety and other behavioural issues [7].
Long term improvements from physical therapy, and more specifically, use of body-
weight-supported treadmill training, have been observed in walking speed, cadence and
stride length, as well as falls reduction [4]. Differential Diagnosis FXTAS is commonly
misdiagnosed as Parkinson’s disease, essential tremor disorder, Alzheimer's disease,
dementia, or ataxia of unknown etiology. FXTAS has some similarities in symptoms
with other neurodegenerative diseases (which are summarized in the table below),
however, FXTAS has an FMR1 gene basis. [4] Resources National Fragile X Foundation
- has a page dedicated to FXTAS. Machado-Joseph Disease (Spinocerebellar
Ataxia Type 3) - Physiopedia Introduction Machado-Joseph Disease (MJD) or
spinocerebellar ataxia type 3 (SCA3) is the most common spinocerebellar ataxia
worldwide.[1] MJD can have widespread symptoms due to the the many anatomical
structures that can be affected. These structures include: Cerebellum (dentate nucleus)
[1] Basal ganglia (substantia nigra and globus pallidus)[1] Midbrain[1] Pons[1]
Thalamus[1] Spinal cord (anterior horn and Clarke’s Column)[2] Cranial nerves[2]
Peripheral nerves[1] Of the aforementioned structures, the common finding is
degeneration. For example, the brain has decreased mass; the cerebellum, pons and
medulla oblongata are atrophied resulting in a loss of neuronal cell bodies in the
dentate nucleus, substantia nigra and anterior horn of the spinal cord.[1] Mechanism of
Injury / Pathological Process MJD is an autosomal dominant inherited disease. This
means that a parent who has MJD has a 50% chance of passing down the affected allele
to their offspring. Due to the fact that MJD presents its inheritance in a dominant
pattern, there cannot be any recessive carriers of the disease. An individual with the
affected allele will always show the symptoms of the disease.[3] A unique feature of
MJD and most repeat genetic diseases is called ‘anticipation’. Anticipation is observed
when children show an increased progression of the disease with earlier onset and
worse symptoms when compared to their parents. This is thought to occur due to
increased repeats of the mutation when passed down from generation to generation.[3]
The affected gene in MJD is referred to as ATXN3. A long and abnormal repeat of the
“CAG” code is the causal factor behind the disease and the reason for the mutated
protein called ataxin-3. This mutation causes the protein to fold abnormally, forming
clumps called 'inclusion bodies' in the nucleus of affected central and peripheral nerve
cells.[3] The ataxin-3 is found in both neural and non-neural tissue throughout the
body and is thought to help with protein quality control pathways. The exact
mechanism of the toxic effects of the mutated protein ataxin-3 is presently unknown
and the repeated CAG code only partially explains the effects of MJD.[4] Epidemiology
MJD is the most common form of spinocerebellar ataxia (SCA).[4] On a global scale,
spinocerebellar ataxia disorders are considered rare with a prevalence of 0.2-0.3 per
100,000.[5] The epidemiology of MJD depends highly on a genetic predisposition.[6]
MJD is an autosomal dominant disorder, whereby individuals with a CAG expanded
repeat sequence in the ATXN3 gene are affected.[6] Both males and females have an
equal probability of inheriting/transmitting the defective MJD allele.[4] MJD is most
commonly found in individuals of Portuguese-Azorean descent.[7] Worldwide, the areas
with the highest prevalence of MJD have been documented to include the South East
Asia/Australia border, Azores, Portugal and Brazil.[8] The onset of the disease varies
widely and is normally investigated when the individual starts portraying symptoms.
Figure 1. Global representation of the prevalance of MJD[8]  Clinical Presentation The
clinical presentation of MJD can vary depending on the subtype (type 1, 2, or 3). MJD
can be classified based on the time of onset, progression, and severity of symptoms. The
earlier the onset, the more progressive and severe the disorder is. Figure 2. Three types
of MJD based on time of onset, progression, and severity of symptoms[9][10] Figure 3.
Common symptoms of MJD Other core signs of MJD include: Physical: Ataxia
(normally the first symptom to develop)[10] Postural instability[4] Dysarthria[4]
Nystagmus[4] Eyelid retraction[4] Facial fasciculations[4] Problems swallowing[4]
Parkinsonism[10] Dystonia[10] Other: Verbal fluency deficits[1] Visuospatial and
constructional dysfunction[1] Bulging eyes[4] Double vision[4] Note: Cognitive
functions are normally NOT impaired, which helps distinguish MJD from other
neurodegenerative diseases.[4] Prognosis MJD is a highly genetic condition, where an
increased number of repeat sequences is correlated with faster progression of the
disease.[2] MJD is a progressive disorder whereby symptoms continue to worsen with
time.[6] Gait ataxia, dysarthria, dysphagia and fasciculations are symptoms that
continue to progress as disease duration increases.[6] Whereas visual impairments,
opthalamoplegia and limb ataxia do not typically continue to worsen.[6] As symptoms
continue to progress, MJD becomes increasingly debilitating. It is most common to see
a progressive decline in gait function and balance, as well as difficulties with the
vestibular system and speech.[3] The disease often progresses into a variety of visual
and oculomotor issues, including nystagmus, jerky ocular pursuits, slowing of saccades,
disconjugate eye movements, and ophthalmoplegia with lid retraction and apparent
bulging eyes.[3] It is common for individuals experiencing MJD to require gait aids,
wheelchair devices, and increased assistance.[6][3] Life expectancy varies depending on
the type of MJD, however, it is generally related to when the respiratory system
becomes compromised.[4] With less severe types of MJD, individuals can live a normal
life expectancy.[4] Individuals experiencing more severe forms of MJD typically live for
6-10 years with the condition before symptoms become too intense and death results,
usually from aspiration pneumonia.[4] In general, patients survive for ~20-25 years
following disease onset.[3] Diagnostic Procedures Molecular testing for the MJD
mutation must be performed to confirm diagnosis.[5] A physiotherapist may refer the
patient to a doctor when suspecting MJD with observation of symptoms indicating
progressive ataxia and pyramidal signs. Genetic testing revealing CAG repeats are
indicative of MJD diagnosis.[1] The number of these repeats correlates with the severity
of the disease; an increasing number of repeats corresponds with increased reflexes and
mortality rate, and vice versa with decreased number of repeats.[2] Type 3 MJD is
specifically characterized by fasciculations.[6] Health care practitioners must be
cautious to rule out amyotrophic lateral sclerosis (ALS), as the involvement of motor
neurons causes the two conditions to present similarly.[1] Upon autopsy, the following
findings may be present; encephalon of decreased mass, pale-coloured substantia nigra,
atrophied cerebellum, medulla oblongata and pons, as well as a decreased number of
neuron bodies in the dentate nucleus, substantia nigra and anterior horn of the spinal
cord.[1] Outcome Measures In order to assess the severity of MJD several scales specific
to ataxia can be used. The International Cooperative Ataxia Rating Scale (CARS) and
Scale for the Assessment of Rating of Ataxia (SARA) have been shown to be both
reliable and effective when used with MJD.[6] SARA CARS Common assessment
measures that are not specific to MJD but may be useful outcome measures for core
symptoms include: Berg Balance Scale (BBS), Romberg Test Ashworth Scale Tardieu
Scale/Modified Tardieu Scale Functional Independence Measure (FIM) 6 Minute Walk
Test Time Up and Go (TUG) Psychological General Well-being (PGWB) Index
Management / Interventions Due to their progressive nature, degenerative cerebellar
diseases can be difficult to manage.[7] Unlike ataxia following a stroke, which may
permit unaffected, intact areas of the cerebellum to compensate for deteriorating areas,
degenerative cerebellar diseases begin to affect essentially all parts of the cerebellum.
Rehabilitation of motor impairments may also be made difficult because of the
cerebellum’s role in motor-learning.[8] Thus, low or poor rehabilitative progression
indicative of low benefit may be caused by the inability of the damaged cerebellar
structures to functionally participate in the relearning of motor skills. Although MJD
may be difficult to manage, the cognition of these patients remains intact, making
treatment plausible from comprehension perspective. There is currently no existing
modifying treatment for MJD, and therefore, much of the disease management
predominantly surrounds the non-motor symptoms. Such symptoms include pain,
cramps, fatigue and depression.[10] Treatment of the aforementioned symptoms as well
as the treatment of sleep disorders, spasticity, parkinsonism, and dystonia must be
acknowledged in an attempt to improve the quality of life of those affected by MJD.[4]
[10] The MJD Foundation illustrates very well what it is like to work with people
affected by MJD. This video depicts their clinical approach to management of MJD. The
cerebellum plays a crucial role in the control of an individual’s movement, taking part
in the coordination of balance and locomotion.[9] Thus, damage to this region very
characteristically translates into a dysfunctional form of movement referred to as gait
ataxia. Gait ataxia presents itself as a highly variable type of movement pattern in which
the individual has difficulties in maintaining postural balance while walking.
Individuals with gait ataxia appear to walk in a “drunk-like” state. Much of the existing
research encompassing coordinative training in degenerative cerebellar diseases is
limited to single cases or studies of a small number of patients with varying levels of
severity and forms of ataxia.[7] For comparative sake, this makes it quite difficult to
establish an idea as to what interventions provide the greatest benefit for patients with
MJD. However, there is promising evidence suggesting that continuous training can, in
fact, induce functional and stabilizing improvements in degenerative cerebellar
diseases.[7] There is evidence that improved postural stability, reduced dependence on
walking aids, and increased independence can be achieved with the use of increasingly
demanding balance and gait tasks.[10][1] It is believed that postural stability may be
improved in patients with MJD by the repetition of activities that challenge their
stability.[1] In addition, there is evidence that treadmills, both with[2][3] and
without[11] the use of body-weight support, facilitate locomotion in patients that have
more severe forms of ataxia. In some individuals, the benefits of gait training using a
treadmill may be further improved when combined with overground gait training.
[2] Also, dynamic balance in posture and gait as well as intra-limb coordination, in both
juvenile and adult patients with degenerative cerebellar diseases, have been found to
 improve with intensive whole-body coordinative training.[5][6] In fact, continuous
coordinative training may reduce ataxic symptoms (ie. gait-like velocity, lateral sway,
and intralimb coordination) that not only contribute to improved stability and motor
performance but also provide the patient with increased quality of life.[5] It is thought
to be true that exercise and physical therapy programs allow patients to better cope
with their disabilities, even though there is a lack of evidence suggesting that exercise
plays any part in slowing the progression of the disease.[10] Much of the coping is
believed to come from positive changes in psychological well-being including a greater
sense of control over the disease, improved mood, and an increase in one’s self-esteem.
[10] However, exercise is clinically shown to help with short-term management of
symptoms and reduction of comorbidities. As the risk of falls becomes increasingly
apparent with disease progression, it is important that the patient’s safety in day-to-day
activity becomes a priority.[10] It may be necessary that the patient is evaluated for
appropriate physical aids such as a cane, walker or wheelchair and assistive devices that
can be implemented at home.[4][10]Implementation of safety measures not only reduce
the risk of falls and fractures but also allows the individual to maintain their
independence for as long as possible.[10] Much of the pharmacological evidence related
to the management of MJD revolves around symptomatic treatment. Although there are
a variety of medications that are used to manage a wide range of symptoms, there is a
lack of evidence illustrating how these medications specifically affect the MJD
population.[4][10] It is important that a physiotherapist be aware that medications may
have a significant effect on the rehabilitation process and on the capabilities of the
patient during treatment.[10] A physiotherapist's role in the assessment of MJD will
often come after a referral from a doctor who has diagnosed and cleared the patient for
exercise training. It is then the physiotherapist’s job to provide a full evaluation of the
individual and create an appropriate exercise program.[10] Acknowledgement of
dysarthria and dysphagia via regular speech therapy as well as occupational therapy
may also help to manage the disease.[4][10] Overall, evidence-based management
parameters are still rather vague and non-specific, and there is a general consensus that
this area of research needs to be improved.[7] It would be beneficial if further research
was done to differentiate between types of interventions, to determine the particulars of
training parameters, and to provide various approaches to training that correspond to
the level of severity of ataxia.[6] Differential Diagnosis The clinical presentation of MJD
can often appear like other neurodegenerative diseases that affect movement, the most
common differential diagnoses are: Parkinson’s Disease Multiple Sclerosis (MS)
Amyotropic Lateral Sclerosis (ALS) Resources MJD Foundation
References
1. ↑ Jump up to:1.00 1.01 1.02 1.03 1.04 1.05 1.06 1.07 1.08 1.09 1.10 1.11 1.12 1.13 1.14 1.15 1.16 1.17 Burk K. Friedreich
ataxia: current status and future prospects. Cerebellum & Ataxias. 2017;4:4.
2. ↑ Jump up to:2.00 2.01 2.02 2.03 2.04 2.05 2.06 2.07 2.08 2.09 2.10 2.11 2.12 2.13 2.14 2.15 2.16 Koeppen A.
Friedreich’s ataxia: pathology, pathogenesis, and molecular genetics. J Neuro.
Sci. 2011;303:1-12.
3. ↑ Jump up to:3.0 3.1 3.2 3.3 3.4 3.5 3.6 3.7 3.8 3.9 Abrahão A, Pedroso JL, Braga-Neto P, Bor-
Seng-Shu E, de Carvalho Aguiar P, Barsottini OG. Milestones in Friedreich
ataxia: more than a century and still learning. Neurogenetics. 2015;16(3):151-
60.
4. ↑ Jump up to:4.0 4.1 Friedreich Ataxia Research Alliance. Available
from: http://www.curefa.org/whatis  (accessed 10 September 2019).
5. Jump up↑ Harding E. The hereditary ataxias and related disorders.
Edinburgh: Churchill Livingstone, 1984.
6. ↑ Jump up to:6.0 6.1 6.2 6.3 6.4 6.5 6.6 6.7 6.8 Pandolfo M. Friedreich ataxia: the clinical
picture. J Neurol. 2009;256:3-8.
7. Jump up↑ Harding E, Zilkha J. Pseudo-dominant inheritance in
friedreich’s ataxia. J Med Genet. 1981;18:285-7.
8. ↑ Jump up to:8.0 8.1 8.2 8.3 8.4 8.5 8.6 Delatycki M, Williamson R, Forrest S. Friedreich
ataxia: an overview. J Med Genet. 2000;37:1-8.
9. ↑ Jump up to:9.0 9.1 Harding E. Friedreich’s ataxia: a clinical and genetic study of
90 families with an analysis of early diagnostic criteria and intrafamilial
clustering of clinical features. Brain. 1981;104(3):589–620.
10. ↑ Jump up to:10.0 10.1 10.2 10.3 10.4 Filla A, De Michele G, Coppola G, Federico A, Vita G,
Toscano A, et al. Accuracy of clinical diagnostic criteria for friedreich’s ataxia.
Mov Disord. 2000;15(6):1255-8.
11. Jump up↑ Oglesbee D, Kroll C, Gakh O, Deutsch E,Lynch D, Gavrilova
R, et al. High-throughput immunoassay for the biochemical diagnosis of
friedreich ataxia in dried blood spots and whole blood. Clin Chem.
2013;59(10):1461-9.
12. ↑ Jump up to:12.0 12.1 12.2 Geoffroy G, Barbeau A, Breton G, Lemieux B, Aube M,
Leger C et al. Clinical description and roentgenologic evaluation of patients
with friedreich's ataxia. Can J Neurol Sci 1976;3(4):279-86.
13. ↑ Jump up to:13.0 13.1 13.2 Cook A, Giunti P. Friedreich’s ataxia: clinical features,
pathogenesis, and management. Br Med Bull 2017;124(1):19-30.
14. ↑ Jump up to:14.0 14.1 Corben LA, Lynch D, Pandolfo M, Schulz JB, Delatycki MB.
Consensus clinical management guidelines for Friedreich ataxia. Orphanet J
Rare Dis. 2014;9(1):184.
15. Jump up↑ Milne SC, Campagna EJ, Corben LA, Delatycki MB, Teo K,
Churchyard AJ, et al. Retrospective study of the effects of inpatient
rehabilitation on improving and maintaining functional independence in
people with Friedreich ataxia. Arch Phys Med Rehab. 2012;93(10):1860-3.
16. ↑ Jump up to:16.0 16.1 Martin CL, Tan D, Bragge P, Bialocerkowski A. Effectiveness
of physiotherapy for adults with cerebellar dysfunction: a systematic review.
Clin Rehabil. 2009;23(1):15-26.
17. Jump up↑ Ilg W, Synofzik M, Brötz D, Burkard S, Giese MA, Schöls L.
Intensive coordinative training improves motor performance in degenerative
cerebellar disease. Neurology. 2009;73(22):1823-30.
18. Jump up↑ Delatycki MB, Holian A, Corben L, Rawicki HB, Blackburn C,
Hoare B, et al. Surgery for equinovarus deformity in Friedreich’s ataxia
improves mobility and independence. Clin Orthop Relat Res. 2005;430:138-41.
19. Jump up↑ Jensen MK, Hundgaard H. Cardiomyopathy in Friedreich
ataxia. Circulation. 2012;125:1591-93.
20. ↑ Jump up to:20.0 20.1 Harding AE. Early onset cerebellar ataxia with retained
tendon reflexes: a clinical and genetic study of a disorder distinct from
Friedreich's ataxia. J Neurol Neurosurg Psychiatry. 1981;44(6):503-8.
21. ↑ Jump up to:21.0 21.1 Wood NW. Diagnosing Friedreich’s ataxia. Arch Dis Child.
1998;78(3):204-7.
22. Jump up↑ Mariotti C, Gellera C, Rimoldi M, Mineri R, Uziel G, Zorzi G,
et al. Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical
follow-up and novel mutations in TTPA gene in Italian families. Neurol Sci.
2004;25(3):130-7.

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