Myopathies: DMD, BMD, FSH

Myopathies
I. Definition

Myopathies represent a diverse group of neuromuscular disorders which mainly

affect skeletal muscle. Typically, manifestations associated with myopathy include
muscle weakness, muscle wasting, fatigue, decreased endurance, and musculoskeletal
deformities. Myopathies can be classified into 3 categories, namely hereditary
myopathies, acquired myopathies, and myopathies associated with systemic disease.
Each category is further subdivided into multiple types of myopathies. Presented in this
section are 3 specific types of muscular dystrophies which fall under the category of
inherited diseases. (DeLisa)

Specific Disorders
 Duchenne Muscular Dystrophy (DMD)
 Becker’s Muscular Dystrophy (BMD)
 Fascioscapulohumeral Dystrophy (FSH)

II. Relevant Anatomy

Advances in the molecular genetics and biology of muscular dystrophies have

followed the identification of the genetic defect behind DMD and the missing protein
dystrophin. Many other proteins have been found to be defective or missing in other
forms of MD. The proteins are termed dystrophin-associated proteins (DAPs).

Dystrophin acts as an anchor in the intracellular lattice to enhance tensile

strength. The other proteins are thought to act as a physical pathway for transmembrane
signaling. The function of sarcospan and sarcoglycan complex is unknown. Absence of
any transmembrane protein would result in faulty mechanics of the cell membrane.

Duchenne Muscular Dystrophy (DMD)

I. Brief background of the condition

A. Definition

Duchenne Muscular Dystrophy (DMD) is a progressive and severely

debilitating neuromuscular condition characterized by muscle weakness and
muscle wasting. It is an X-linked disorder with the chromosomal abnormality at
the Xp21 gene locus (7). This gene codes for the protein dystrophin, which is an
important component of the muscle cell membrane. The absence of dystrophin
causes disruption of the cell membrane cytoskeleton, increasing its susceptibility
to mechanical stress. This leads to the development of fibrotic tissue owing to the
loss of muscle fiber.

DMD is considered to be the most common childhood-onset form of

muscular dystrophy, typically occurring more often in males than females. Onset
 during childhood is often noted before 4 to 5 years of age. The initial presenting
symptoms of the disease include abnormal gait with toe walking, increased
lumbar lordosis, and proximal weakness, which leads to frequent falls and
difficulty climbing steps. (DeLisa)

The key stages in the progression of DMD are the following:

 Stage 1 (Presymptomatic) - The patient presents with delays in

ambulation and speech. However, these symptoms are subtle and may
go unnoticed. Diagnosis is confirmed if elevated CK levels are found or if
there is positive family history of the condition.
 Stage 2 (Early Ambulatory) - The patient will begin to show more typical
signs and symptoms of DMD, which include a Gower’s sign, waddling
gait, and toe walking. 
 Stage 3 (Late Ambulatory) - There is increased difficulty with walking,
climbing stairs, and rising from the floor.
 Stage 4 (Early Non-ambulatory) - At this stage, the patient is dependent
on a wheelchair, but is still able to maintain posture. The patient is also at
risk of developing scoliosis.
 Stage 5 (Late Non-ambulatory) - There is increased limitation in upper
extremity function and postural maintenance.
https://www.cdmd.ucla.edu/files/view/neuromuscular-clinic/Family_Guide.pdf 

B. Etiology/Pathophysiology
https://dipot.ulb.ac.be/dspace/bitstream/2013/67647/1/Pathophysiology
%20of%20Duchenne%20Muscular%20Dystrophy%20%20.pdf 

Within the muscle tissue, are long tubular cells called myocytes. Located
near the membrane of these myocytes are important structural proteins called
dystrophin. Dystrophin functions as a key element that stabilizes the plasma
membrane by linking the skeleton of the myocyte to the extracellular matrix. In
DMD, a genetic mutation causes dystrophin to lose it’s dystroglycan binding end,
making it dysfunctional and extremely short. Because of this, mechanical forces
induced by muscle contractions can cause microlesions in the membrane. The
presence of microlesions or tears allow the diffusion of various molecules into
and out of the cell membrane. The molecules involved in damaging the muscle
are calcium ions and creatinine kinase (CK). Normally, regulated levels of
calcium plays a role in the breakdown of old and damaged proteins through the
activation of calcium-dependent cellular enzymes called proteases. However, in
DMD the increased influx of extracellular calcium causes breakdown of important
functional proteins as well as further destruction of the membrane thereby
increasing the entry of calcium. This leads to cell death. Another molecule is CK.
The enzyme leaks through the membrane and goes into the blood causing
elevated levels of CK. Normally, CK is an enzyme that stores energy for
myocytes to use during a muscle contraction. With less CK, less energy storage
occurs, which weakens the muscles.
 Muscle regeneration and repair can occur at a faster rate at younger
ages. As the patient ages, the regenerative capacity of the muscles can no
longer keep up with the constant death of myocytes. Instead, the gaps are filled
in with adipose and connective tissue. Since these tissues are unable to contract,
muscles get weaker over time. This weakening leads to a distinct pattern of
symptoms that are associated with DMD.

C. Epidemiology
 According to the Muscle Dystrophy Association of the Philippines
(MDAP), more than 200 individuals or around 0.0002% of the population
in the Philippines suffer from muscular dystrophy. It more commonly
affects the Filipino adult population. https://news.abs-
cbn.com/life/09/08/19/filipinos-with-rare-muscle-disease-run-for-public-
awareness-govt-support 
 Occurs more often in males than in females. Age of onset may range
between 3 and 5 years of age. 
 In the United States, an estimate of 250,000 individuals suffer from
various types of muscular dystrophy.
https://rarediseases.org/rare-diseases/duchenne-muscular-dystrophy/ 
 Has an incidence f 1:3500 male births (Braddom, 4th ed)

D. Diagnosis (DeLisa)
 Genetic analysis
o First line of testing that involves the examination of DNA to identify
mutations in the gene
o Findings include a complete absence of the dystrophin gene
 Specialized laboratory testing 
o Findings include an abnormally high level of creatinine kinase
(CK) level ranging from 15,000 to 35,000 IU/L (normal value is
>160 IU/L)
 Electromyogram (EMG)
o Findings show nonspecific myopathic features with normal motor
and sensory nerve velocities and no denervation
 Muscle biopsy
o Findings show degenerating and regenerating fibers, inflammatory
infiltrates, and increased connective tissue and adipose cells
 Immunolohistologic staining
o Findings show the absence of dystrophin along the muscle cell
membranes

E. Differential Dx
 Becker’s Muscular Dystrophy (BMD) - A muscle wasting disease that also
follows the X-linked inheritance pattern. It is caused by reduced levels of
the dystrophin gene. 
 Emery-Dreifuss Muscular Dystrophy (EDMD) - A muscle wasting disease
that follows either an X-linked or autosomal dominant inheritance pattern.
 Limb-girdle Muscular Dystrophy (LGMD) 
  Spinal Muscular Atrophy (SMA) - A muscle wasting disease that is
caused by the complete absence of the SMN gene on chromosome 5.
https://rarediseases.org/rare-diseases/duchenne-muscular-dystrophy/ 

F. Prognosis
 DMD is not curable.
 Life expectancy is mid to late twenties. However, with proper care, some
may live into the 3rd or 4th decade.
 The most common cause of death is respiratory failure followed by
cardiac-related conditions.
https://en.wikipedia.org/wiki/Duchenne_muscular_dystrophy#Prognosis 
 If patient’s are still ambulatory by 13 years of age, the diagnosis should
be questioned. The patient may have BMD, which is a less severe form of
MD.
https://www.medscape.com/answers/1259041-93874/what-is-the-progression-of-duchenne-
muscular-dystrophy-dmd-following-loss-of-ambulation 

II. Examination Strategies

Clinical Manifestations and Other Complications (Braddom, 4th ed)

 Presenting signs and symptoms
o Gower’s sign during floor-to-stand transfer
o Proximal weakness (hips, pelvis, thighs, shoulder, and arms)
o Pain and pseudohypertrophy of calves
o Toe walking - A compensatory adaptation to knee extensor
weakness.
o Increased lumbar lordosis - A compensatory change due to hip
extensor weakness.
o Tongue is frequently enlarged
 Obesity due to reduced physical activity and wheelchair dependence
 Progressive scoliosis
o The likelihood of severe progressive spinal deformity could be
predicted by the type of curve and early pulmonary function
measurements.
 Contractures
o Ankle plantar flexion
o Knee flexion
o Hip flexion
o Iliotibial band tightness
o Elbow flexion
o Wrist flexion
 Gastrointestinal system
o Constipation
o Acute gastric dilation
o Intestinal pseudo-obstruction
 Pulmonary function
 o Absolute FVC volumes increase in DMD during the first decade
and plateau during the early part of the second decade.
o The maximal FVC in severe cases reaches a plateau of <1200 ml.
This influences the patient’s ability to walk before age 10 and the
severe progression of scoliosis.
o Respiratory insufficiency: excessive fatigue, daytime sleepiness,
morning headaches, sleep disturbances, feeling the need to “gulp
for air” upon arousal during the night
 Cardiac issues
o Dilated cardiomyopathy
o Arrhythmia
o Congestive heart failure (CHF)
o Localized posterior wall fibrosis
o Sinus tachycardia due to low stroke volume 
o Sudden death from ventricular ectopy or progressive CHF
 Cognition
o Any form of intellectual impairment is not progressive and is not
related to the severity of the disease.

Examination (Tecklin)
History
 The examination  should begin with a thorough history taking. This should
include: family history, birth and developmental history; a review of
systems; functional mobility; social history; environmental barriers; and
current durable medical equipment. The therapist should also take into
account the primary concerns of the family and child.

Family History
 This will provide a broader medical and social picture of the lives of the
patient and his family. This will also help identify the possible carriers of the
disease.

Developmental History
 The patient’s parents may report of frequent falling, clumsiness, learning
lag, and other symptoms associated with DMD.

Review of Systems
 This should include: pulmonary, cardiac, GI, integumentary, and
musculoskeletal systems. The need to refer the patient to other specialists
should be considered if any abnormalities are found.

Test and Measures

 Functional Ability
o Six Minute Walk Test (6MWT)
o North Star Ambulatory Assessment (NSAA)
 Muscle Testing
o Manual Muscle Testing (MMT)
o Handheld myometry (HHM)
o Grip and pinch dynamometers
  Range of Motion
o Goniometric testing should focus on ankle dorsiflexion, knee extension,
and hip extension.
o Measurement of the popliteal angle to monitor hamstring flexibility
o Special tests to monitor hip flexor and ITB tightness
 Thomas test
 Ober test

North Star Ambulatory Assessment (NSAA)

Title: Revised North Star Ambulatory Assessment for Young Boys with Duchenne
Muscular Dystrophy
Authors: Eugenio Mercuri ,Giorgia Coratti,Sonia Messina,Valeria Ricotti,Giovanni
Baranello,Adele D’Amico,Maria Carmela Pera,Emilio Albamonte,Serena Sivo,Elena
Stacy Mazzone,Maria Teresa Arnoldi,Lavinia Fanelli,Roberto De Sanctis,Domenico
M Romeo,Gian Luca Vita,Roberta Battini,Enrico Bertini,Francesco Muntoni,Marika
Pane
Year: 2016
Tool: Appraised with AXIS Appraisal Tool for Cross-Sectional Studies with a score
of, Yes: 15 , No: 5

This cross-sectional study sought to develop a revised version of the North Star
Ambulatory Assessment (NSAA) that is more developmentally appropriate for boys
aged 3 to 5 years old. One hundred seventy one controls whose ages ranged from 2
years, 9 months, to 4 years and 8 months were gathered from 3 centers. Boys who
were born prematurely were assessed, but were not part of the analysis. One
hundred seventy three assessments from 75 boys who were aged less than 5 years
and had a genetically proven diagnosis of DMD were included. Those treated with
steroids were not included. 

The original NSAA scale consists of 17 items that assess a child’s abilities which
play a necessary role in remaining functionally ambulant. Each item is scored on a 3-
point scale (0-Unable to achieve independently; 1-Modifies task but can achieve it
independently; 2-Achieves task with complete independence). The highest score that
can be obtained is 34, if all tasks are achieved independently. 
(See appendix for the original NSAA scale)

For an item to be considered age appropriate, the task had to be completed with
a perfect score by at least 85% of the normally developing boys at a certain age. The
results of the study revealed that at age 3, perfect scores were achieved in 8 items
with a maximum score of 16. At 3.5 years, perfect scores were achieved in13 items
with a maximum score of 26. At 4 years, perfect scores were achieved in all 17 items
with a maximum score of 26. A new revised scale was created based on the results
by rearranging the items.
(See appendix for the revised NSAA scale)

Becker’s Muscular Dystrophy (BMD)

I. Brief background of the condition

A. Definition (Braddom, 4th Ed)

Becker muscular dystrophy is a form of muscular dystrophy with a similar

pattern of muscle weakness as seen in Duchenne Muscular Dystrophy (DMD). It
also has an X-linked inheritance, but with a later onset and a much slower rate of
progression than DMD. With this condition in parallel to DMD, it shows a similar
pattern of muscle weakness. This disorder has the same gene location as the
DMD gene (Xp21) and is allelic. Age of onset typically occurs during childhood or
early adolescence.

B. Etiology/Pathophysiology

Like DMD, the disorder has an abnormality in the gene location (Xp21)
coding for the protein dystrophin. However, in this case, dystrophin levels are
usually 20% to 80% of normal, or have the presence of the protein with an
abnormal molecular weight.

Mutations at the (Xp21) locus that maintain the translational reading

frame (in-frame mutations) result in an abnormal but partially functional
dystrophin protein. Exon deletions exist in the dystrophin gene Xp21(X-
chromosome, short arm p, region 2, band 1) affected males approximately 30%
of known cases of the BMD phenotype do not have to demonstrate
mutation/deletion.

A reading frame or in-frame mutation hypothesis has been proposed to

explain abnormal translation of the dystrophin gene. Abnormal but functional
dystrophin may be produced, in contrast to the pathology of DMD, in which a
frame-shift mutation essentially leads to failure to produce dystrophin. 

C. Epidemiology

 The incidence of BMD has been estimated at a rate of 1 in 18,000 to

32,000 male births. 
 The prevalence is relatively broad and the ranges differ depending on
region, and source.
 Cases presenting at a later age usually with limb-girdle involvement and
pseudohypertrophy.
 The presentation of the disease may occur in some female carriers of the
mutation.

D. Diagnosis

Without the dystrophin analysis, it may be difficult to clinically discriminate

between DMD and BMD. The degree of creatine kinase elevation does not
discriminate between the two diseases.
 The most potent clinical diagnostic discriminator is the ability to ambulate
into adolescence. It is unusual for a patient with BMD to be wheelchair
dependent before late adolescence, whereas even DMD outliers are dependent
on the wheelchair for mobility by the age of 16.
 
The diagnosis is established in up to 80% of cases with the serum DNA
analysis. In the rest a combination of immunohistochemical demonstration of the
relative absence of dystrophin, elevated creatine kinase, the clinical pattern and
the pedigree analysis make the diagnosis.

E. Differential Dx (Braddom, 4th Ed)

 DMD and BMD both have an X-linked recessive gene built where in the
genetic association (Xp21) dystrophin is at a loss of functional
expression, in BMD, it is simply reduced.
 The age of onset is typically early 1-5 on DMD, whereas the condition
manifests the late 5-25 in BMD.
 The most useful criterion to distinguish BMD from DMD is the continued
ability of the patient to walk in their later adolescent.

F. Prognosis

  Slow progression
  May have a normal lifespan

II. Examination Strategies

Clinical Manifestations and Other Complications (DeLisa)

 Presenting signs and symptoms

o Neck flexors and proximal lower limb muscles (hip and knee) are affected
early
o Gradual involvement of proximal upper-limb muscles
o Extensors and weaker than flexors
o Gower’s sign
o Enlargement of calf
o Increased lumbar lordosis
o Waddling gait with trunk lean over the weight-bearing limb due to
weakness of hip abductors
 Contractures 
o Usually occur after wheelchair dependence
 o Typically occurs in the hip flexors, knee flexors and ankle plantarflexors
 Scoliosis is not as significant compared to DMD
 Pulmonary function
o FVC does not fall below predicted level until the third to fifth decade of life
o Greater involvement of intercostals and abdominal muscles
o Maximum expiratory pressure is compromised at an earlier age than
maximum inspiratory pressure (similar to DMD)
 Cardiac issues
o High risk of developing cardiac disease 
o Abnormal Q-waves
o Right or left ventricular hypertrophy
o Right bundle branch block
o Nonspecific T-wave changes

III. Intervention Plan

All patients with a dystrophin abnormality or showing signs of clinical symptoms may be
compatible with BMD range phenotypes. BMD patients show little to no capability in performing
the Gowers maneuver hence the episodes of fatigability. A relevant feature to consider
rehabilitative therapy is advising physical exercise and correlating muscle metabolism. Muscle
fibers go in two types, slow type 1, and fast type 2, the characteristics of these muscle fibers is
centered within its plasticity, secondary to its muscle oxidation and external stimuli. The
transition from fast to slow muscle fiber is not always complete, and for individuals with BDM,
their bodies predominate in intermediate fibers. The transitions in fast to intermediate, then
eventually slow muscle fibers, show implications in therapeutic exercise since slow muscle fibers
are resistant to necrosis. In the rehabilitative perspective endurance training has been
demonstrated to be the safest method to increase exercise performance and daily functions in
BMD patients. [ CITATION Cor19 \l 13321 ]

Joint contractures and scoliosis develop in a large majority of BMD patients, these
manifestations can occur due the prolonged static positioning of the limb and further develop as
the individual depends on a wheelchair. On the upper extremity, contractures occur in patients
with proximal atrophy and can be relieved with gentle static stretching and proper splints. With
these findings joint ROM should be objectively monitored on a regular basis and should not
exceed >60% of sever elbow flexion. [ CITATION Dav20 \l 13321 ]

 When a contracture limits a ROM, configure out the available range towards the
patients available range and have them perform a passive ROM, before
attempting AROM, but is assisted by AAROM[ CITATION Hel14 \l 13321 ].

Palliative care services improve the quality of life for both the care giver and the
individual with a progressive condition like DMD. Education given to the healthcare provider and
the public may redefine the role of specialized care for life-limiting pediatric conditions. To the
families of the affected individual, it is important to foster proactive decision making for families
who are taught to deal with a progressive disease rather then optimizing various stages of
decline, eventually leading to death.[ CITATION And18 \l 13321 ]
 Standard of care for patients with DBMD and other muscular dystrophies include
periodic assessments to carefully monitor pulmonary, cardiac, and bone health, and is
secondary due to the side effects of medications and treatments. A standard rise in COVID-19
rates place a strain within face-to-face treatments, and should be individualized, adjusted, with
a complete balance in patient, caregiver, and staff safety[ CITATION Ara20 \l 13321 ]. One
alternative medium used to treat patients with DBMD, would be through and online
consultation. Thus giving the caregiver or relative full control of what measures may be
undermined through remote learning.

Fascioscapulohumeral Dystrophy (FSH)

I. Brief background of the condition

A. Definition

Facioscapulohumeral muscular dystrophy (FSH) is a slowly progressive

dystrophic myopathy with a predominant involvement of facial and shoulder
girdle musculature. The condition has autosomal dominant inheritance with
linkage to the chromosome 4q35 locus.

An autosomal dominant disorder, variable in severity and associated with

a contraction of a series of 3.3 kB repeats at locus 4q35. Facial weakness is an
important feature in FSH.

B. Etiology/Pathophysiology

With reduced DNA fragment size, the telomere region. The reproduction
in DNA fragments is due to the deletions of a repeat sequence called D4Z4;
however, the specific mechanisms of disease have not been elucidated.

FSH results only if a critical number of D4Z4 repeat occurs on a 4q35

allele with a distal “A” variant. This event results in the depression of a gene,
DUX4, which is normally switched off differentiated cells.

C. Epidemiology

 The incidence of FSH occurs within 1-2:100000.

 It is the second most common inherited muscular dystrophy in the adult
population.
 It is the third most common of the dystrophies, behind DMD, BMD, and
myotonic muscular dystrophy.
 D. Diagnosis

 EMG and muscular biopsy will show myopathic abnormalities. 

 Creatine kinase levels: raised to 1.5-2 upper limit or normal.

E. Differential Dx

 FSH can occur in any age, whereas DMD and BMD have a specific age
of onset.
 The anatomical distribution of FSH occurs primarily in the face and
shoulder girdle initially then progresses to pelvic girdle and legs.

F. Prognosis

 Slow progression
 Minor disability
 Sustains a usual normal lifespan
 Progression is rapid, with most individuals becoming wheelchair-reliant by
the late second or third decade of life

II. Examination Strategies

Clinical Manifestations and Other Complications (Braddom, 4th ed)

 Presenting signs and symptoms

o Facial weakness resulting to an “expressionless face”
 Orbicularis oris, zygomaticus, and orbicularis oculi are primarily
affected
 Difficulty burying the lashes, pursing the lips, smiling, drinking
through a straw, or whistling
 Masseter, temporalis, extraocular, and pharyngeal muscles are
spared
o Shoulder girdle weakness
 Combined weakness of serratus anterior, rhomboids, latissimus
dorsi, and lower trapezius cause lateral and superior displacement
of the scapula
 Profound posterior and lateral winging of scapula
o Muscle involvement is asymmetrical
o Weakness of proximal musculature of hip girdle
 Hyperlordosis
 o Rarely
o May compensate for for hip extensor weakness
 Contractures are uncommon
 Scoliosis
o Mild and nonprogressive curves
 Pulmonary function
o May develop mild restrictive lung disease
o Expiratory muscles are more involved than inspiratory muscles
 No cognitive or intellectual involvement

Intervention Plan

Strengthening and Aerobic Exercise (Tecklin)

a. Objectives of care
 Increase strength
 Increase functional capacity
 Improve cardiopulmonary function
b. Appropriate interventions 
 Isokinetic submaximal strength training
 Endurance exercises 
o Swimming
o Aquatic-based therapy
o Cycling
c. Relevant health teachings to patient and family
 Ensure self-limitation of activities to avoid overuse and overfatigue
 Patient should not be allowed to do eccentric or resistive exercises
 Parent or caregiver should take not of the signs of overuse weakness,
which include:
o Feeling weaker 30 min. postexercise
o Excessive soreness 24 to 48 hours postexercise
o Severe muscle cramping
o Heaviness in the extremities
o Prolonged shortness of breath

Management of Contractures and Deformity

a. Objectives of care
 To prevent the development of contractures
b. Appropriate interventions 
 Daily stretching of achilles tendon and serial casting in DMD
o To prevent plantarflexion contracture
 Night splints with heel cord stretching
o To prevent equinovarus deformity in DMD
 Daily passive stretching
o 10-15 reps, 15 sec, once or twice daily
 ROM programs
 Lateral support and viscous fluid filled or air cushions in wheelchairs
o To provide pressure relief and spinal positioning while the patient
is seated in the wheelchair
c. Relevant health teachings to patient and family
  Hamstring stretches can be added to the home program once changes in
hamstrings length is evident. 

Mobility Aids and Orthotic Management

a. Objectives of care
 To promote independent and functional mobility
 To slow the progression of contractures
 To reduce fall risk and fatigue
b. Appropriate interventions 
 Bilateral Knee-Ankle-Foot Orthosis (KAFO) in DMD
 Spinal arthrodesis in DMD
 Power mobility devices
o To promote independent mobility
c. Relevant health teachings to patient and family
 Provide proper wheelchair training to children, so that they may learn to
safely operate it themselves.

Virtual Reality (VR)

Title: Use of Virtual Reality Applied to Upper Limb Rehabilitation in Duchenne
Muscular Dystrophy: A Systematic Review 
Authors: Rosa Baesa, Maria Teresa Labajos Manzanares, Carmen Ruiz Vergara,
Maria Jesus Casuso-Holgado, Rocio Martin Valero
Year: 2016
Tool: CASP with a score of, Yes: 8

Virtual reality provides a fun and engaging environment for individuals. It has
been used as an adjunct to therapy for the simulations which serve as learning
contexts that closely imitate what would occur or what one would see in real-life
situations.The merging of the concepts of virtual reality and rehabilitation has
revealed a link between the effectiveness that the two may provide to patients. A
2020 systematic review by Baeza et al. aimed to verify the effectiveness of the
application of virtual reality in the rehabilitation of UE of patients with DMD. A variety
of VR systems were utilized in the studies reviewed by the authors. These include
the use of Kinect Sensor, Leap Motion Interface, Playstation, music games, sound
simulations, and smartphones. The studies agreed that it is very important to select
and include tasks that are suitable for the patient with DMD. The pattern of
movement that is necessary to complete a certain task will mark its difficulty. Patients
with advanced stages possess greater weakness and loss of functional ability and
will thereby perform tasks less optimally and at a slower speed. In terms of the
transfer of tasks, the task must be set to be more difficult in the virtual environment
considering that the space-time organization in the virtual task differs from the real
task. Moreover, one of the studies claimed that the utilization of VR systems may be
more effective than standard exercises with low resistance, because it focuses more
on the general movements necessary rather than isolated muscle movements.

Six-Month Home-Based Exercise Program for FSHD Patients

Title: Safety and Efficacy of a 6-month Home-Based Exercise Program in Patients
with Facioscapulohumeral Muscular Dystrophy
Authors: 
Year: 2016
 Tool:  PEDROScale, Yes: 7, No: 4 

The purpose of this study was to investigate the effects of a 6-month (24-week)
home exercise program designed for patients with FSHD. Sixteen patients with
FSHD Type 1 took part in the study. They were randomly assigned and equally
divided into control and training groups. The exercise program was composed of a
combination of high-intensity, low-intensity aerobic exercises and strength training. It
consisted of the following activities:
 35 minutes of cycling per week performed on a stationary ergocycle
 2 combined sessions of moderate intensity aerobic exercise (60% of MAP) to
be followed by sets of near-maximal revolutions
 Interval training during the third session

The results showed increases in the following outcomes:

 VO2 peak
 MAP
 Citrate synthase enzyme activity
 Muscle strength and endurance
 Muscle fiber cross-sectional area
 Walking speed

Overall, the results confirmed the efficacy of a long-term home-based exercise

program that is safe and well-tolerated by FSHD patients.

The primary muscle group affected by FSHD would stem from the face and shoulders,
slowly progressing towards the lower extremities. A neurological testing for CN7 would be the
initial stage in early diagnosis of FSHD, and then later progressing to manual muscle test to
identify the limitations of larger muscle groups and ROM testing to identify the complete motion
of these muscle groups. With the use of muscle groups also involve mobility and activity, hence
aerobic/functional capacity should reflect on the evaluation. To further explore the condition,
functional assessment measures should measure the individuals activities of daily living.

A cross-sectional study conducted in centers of Cooperative International

Neuromuscular Research Group (CINRG), initiated test on a group of patients with FSHD to
examine their limitations. A manual muscle test was assessed to identify major muscle groups
and tested bilaterally in standardized upright position if capable, it was observed that many
patients with repetitive D4Z4 could not score 3 or higher. With the baseline result identified that
age has a direct correlation with the number of repetitive D4Z4 sequences, following an
aptitude of severity of the condition.[ CITATION Jea18 \l 13321 ]

To test of limitations of extremities in daily life, measurements of functional status in

patients with different types of muscular dystrophy is used. Scales such as Brooke Scale to apply
upper extremity function, and Vignos Scale for lower extremity function. For the Brooke scale
range from 1 to 6, 1 states that the patient can abduct the arms in full circle where 6 stands that
they are unable to do so. For the Vignos Scale range from 1 to 10, 1 meaning that the patient
can walk up and down the stairs, whereas 10 means that they are bedridden[ CITATION Jac19 \l
13321 ].
 Patients presenting with D4Z4 had different repeats of the gene and was held as the
variable for severity of the condition, this was correlated to the motor outcomes and age of
onset of either or shoulder weakness. As of today, there is no current medical treatment
involved to cure FSHD, the mainstay treatment for this condition is physical therapy, and
exercise to prevent atrophy of underutilized muscle groups.

III. References

References
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