NCM 116 -

MUSCULAR
DYSTROPHY
 • Muscular dystrophy is a group of
inherited diseases characterized
by weakness and wasting away of
muscle tissue, with or without the
breakdown of nerve tissue.
• Muscles, primarily voluntary
muscles, becomes progressively
weaker
MUSCULAR • In some types of muscular
DYSTROPHY dystrophy, heart muscles, other
involuntary muscles and other
organs are affected
• The most well known of the
muscular dystrophies is
Duchenne muscular dystrophy
(DMD), followed by Becker
muscular dystrophy (BMD).
Type Age at onset Symptoms, rate of progression, and life expectancy
Becker adolescence to Symptoms are almost identical to Duchenne, but less severe; progresses more slowly
early adulthood than Duchenne; survival into middle age. As with Duchenne, disease is almost always
limited to males.

Congenital birth Symptoms include general muscle weakness and possible joint deformities; disease
progresses slowly; shortened life span.

Duchenne 2 to 6 years Symptoms include general muscle weakness and wasting; affects pelvis, upper arms,
and upper legs; eventually involves all voluntary muscles; survival beyond 20s is rare.
Seen in boys only. Very rarely can affect woman, who have much milder symptoms and
a better prognosis.

Distal 40 to 60 years Symptoms include weakness and wasting of muscles of the hands, forearms, and lower
legs; progression is slow; rarely leads to total incapacity.

Emery-Dreifuss childhood to early Symptoms include weakness and wasting of shoulder, upper arm, and shin muscles;
teens joint deformities are common; progression is slow; sudden death may occur from
cardiac problems.

Facioscapulohumeral childhood to early Symptoms include facial muscle weakness and weakness with some wasting of
adults shoulders and upper arms; progression is slow with periods of rapid deterioration; life
span may be many decades after onset.

Limb-Girdle late childhood to Symptoms include weakness and wasting, affecting shoulder girdle and pelvic girdle
middle age first; progression is slow; death is usually due to cardiopulmonary complications.

Myotonic 20 to 40 years Symptoms include weakness of all muscle groups accompanied by delayed relaxation of
muscles after contraction; affects face, feet, hands, and neck first; progression is slow,
sometimes spanning 50 to 60 years.

Oculopharyngeal 40 to 70 years Symptoms affect muscles of eyelids and throat causing weakening of throat muscles,
which, in time, causes inability to swallow and emaciation from lack of food;
progression is slow.
 PATHOPHYSIOLOGY

• Dystrophin is responsible for connecting

the cytoskeleton of each muscle fiber to
the underlying basal lamina. The
absence of dystrophin stops calcium
entering the cell membrane affecting
the signaling of the cell, water enters
the mitochondria causing the cell the
burst.

Pathophysiology (DMD & BMD)

• https://www.youtube.com/watch?v=ir8NNx8
5jBY
• https://www.youtube.com/watch?v=Ebu8W8
Osuxk
 Pathophysiology
• dystrophin absence leads to poor
muscle fiber regeneration
• progressive replacement of muscle
tissue with fibrous and fatty tissue
• skeletal and cardiac muscle lose
elasticity and strength
• Genetics
• X-linked recessive
• Xp21.2 dystrophin gene defect due to
point deletion and nonsense mutation
• one third of cases result from
spontaneous mutations
 Calf pseudohypertrophy (infiltration of
normal muscle with connective tissue)

Deep tendon reflexes present (unlike

spinal muscular atrophy)

Lumbar lordosis
Physical
• compensates for gluteal weakness
Assessment
Gower's sign
• rises by walking hands up legs to compensate
for gluteus maximus and quadriceps weakness

Trendelenburg sign
Clinical
Manifestation
 Clinical
Manifestation
Calf pseudohypertrophy
 TRENDELENBURG SIGN GOWERS SIGN

https://opt.net.au/wp-content/uploads/trendelenburg-gait.jpg https://epomedicine.com/wp-content/uploads/2016/11/gowers-sign.gif
 LABORATORY
• Elevated CPK levels (10-200x normal)
– CPK leaks across defective cell membrane
• Muscle biopsy
– will show connective tissue infiltration and foci
of necrosis
– will show absent dystrophin with staining
• DNA testing
– shows absent dystrophin protein
• EMG
– myopathic
• decreased amplitude, short duration, polyphasic
motor
Electromyography
(EMG)
 Management
• Sadly, there is no cure for Duchenne’s, but
there are ways to help improve the
individual’s quality of life and provide help
for the stage they are in.
1. Pulmonary care
• Examples of what evaluation of respiratory
function should include are:
• Spirometric measurements of FVC, FEV,
and maximal mid-expiratory flow rate
• Maximum inspiratory and expiratory
pressure
• Peak cough flow.
• Carbon dioxide levels should also be
monitored[45].
• Airway clearance is of importance to prevent
atelectasis and pneumonia.
• Manually assisted coughing techniques are
useful in patients who have a low cough peak
flow rate (below 160 L/min) because self-
clearance of their airways are not adequate.
• Expiratory force can also be increased by
applying pressure to the patient's upper
abdomen during their natural cough.
• Other manual techniques include air stacking,
glossopharyngeal breathing, and positive
pressure application.
2. Rehabilitation
2. Rehabilitation
– physical therapy
for range of
motion exercises
– adaptive
equipment
– power
wheelchairs
– KAFO (Knee-
Ankle-Foot
Orthosis) bracing
 • In the ambulant
Pharmacologic stage, chronic
cortical steroid
Intervention treatment is an
accepted practice.
Glucocorticoid, a
type of
corticosteroid, is a
standard of care
among DMD
patients.
• The use of steroids
has been shown to
help improve muscle
strength and
function, delay the
loss of ambulation,
and help maintain
cardiac and
respiratory function
 Diagnosis
• Ineffective airway clearance related
to muscle weakness and
decreased ability to cough.
• Impaired physical mobility related
to muscle weakness
• Risk for ineffective breathing
pattern
• Fatigue related to increased energy
requirements to perform activities
of daily living.
• Imbalanced nutrition more than
body requirements related to
inactivity.
• Risk for injury related to muscle
weakness and unsteady gait.
 Interventions and Rationales:
Keep the right cushion and wheelchair with the right client
• Rationale: “Cushions lessen shock, pressure, vibration, pain and fatigue”

Intervene to maintain continence, nutrition, and hydration

• Rationale: “Helps prevent pressure ulcers”

Emphasize importance of weight shifts every 15 minutes”

• Rationale: “Prevents capillary occlusion/force on skin over bony areas”

Follow therapist’s recommendations for how clients should propel manual

wheelchairs to prevent upper extremity pain and joint degeneration”
• Rationale: “Overuse and repetitive strain is common especially in those with spinal cord injury”

Assess home environment for barriers and a support system for emergency
and contingency care”
• Rationale: “Immobility and wheelchair use may pose a threat during health crises”
Summary
References:
• https://www.orthobullets.com/pediatrics/409
2/duchenne-muscular-dystrophy
• https://www.physio-
pedia.com/Duchenne_Muscular_Dystrophy