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Muscular Dystrophies
Sadia Iftikhar
Physical therapist
 Muscular Dystrophies 2

• A group of primary muscle disorders that have a heriditary

basis.

• They occur at all ages with varying degrees of severity .

• Muscular dystrophy refers to a group of hereditary

progressive diseases each with unique phenotypic and
genetic features
 • Duchenne’s Muscular Dystrophy
• Becker’s Muscular Dystrophy
• Emery- Dreifuss Dystrophy
• Facioscapulohumeral Dystrophy
Muscular • Scapuloperoneal Syndrome
Dystrophies • Oculopharyngeal Dystrophy
• Congenital Muscular Dystrophies
• Kearns-Sayre Syndrome
• Myotonic Dystrophy
• Limb-Girdle Muscular Dystrophies

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 Duchenne’s Muscular
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Dystrophy
• Also called Pseudo hypertrophic muscular dystrophy.
• X linked recessive disorder
• Incidence : 30 per 1,00,000 live born males
• No abnormality is usually obvious at birth
• During 2nd year , when boys begin walking , the early
clumsiness is seen.
• Soon , the child needs to place one hand on the knee
to assume an upright position when rising from the
floor( GOWER’S MANEUVER )
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• The iliotibial bands & heel cords are the first 6
to become tight.
• By 5- 6 yrs of age, stair climbing becomes
labored,and children use railing to pull
themselves upward.
• At the age of 6-7 yrs , the boys often complain of
sudden spontaneous falls.
• At 8-10 yrs of age, affected children cease to be
able to climb stairs or stand up from floor and it
is almost this time by which they begin to use
wheelchair.
• Contractures of hips,knees & ankles become severe
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when relatively untreated child spends much of the

day in wheelchair.

• Hips & Knees are locked at 90 degrees & feet turn downward &
inward in an exaggerated position of equinovarus.

• With , development of severe scoliosis, resp fn becomes

compromised .

• Cardiac inv : degeneration & fibrosis of posterolateral wall of

lt.ventricle

• Mental impairment is common.

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• By 16-18 yrs , pts are predisposed to fatal pulmonary

infections.

• Affected children die either from resp.failure or

cardiomyopathy that is resistant to treatment.

• Other causes : aspiration & acute gastric dilatation.

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• Duchenne dystrophy is caused by a mutation of the gene
that encodes dystrophin, a 427-kDa protein localized to
the inner surface of the sarcolemma of the muscle fiber .

• It is localized to the short arm of the X chromosome at

Xp21.

• The most common gene mutation is a deletion.

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 Diagnosis 11
• DNA studies looking for deletion in dystrophin gene - the least invasive test
to confirm the diagnosis.
• 30 % of pts in whom deletion is not found , Muscle Biopsy is required to
establish absence of dystrophin.
• Serum.CK levels markedly elevated (>10000 mU/ml )
• EMG – myopathic changes
• Muscle Biopsy : variation in the size of the fibres, fibrosis, groups of
basophilic fibres & opaque / hypercontracted fibres (hyaline fibres)
• Western blot analysis of muscle biopsy specimens, revealing abnormalities on
the quantity and molecular weight of dystrophin protein.
Immunocytochemical staining of muscle with dystrophin antibodies can be
used to demonstrate absence or deficiency of dystrophin localizing to the
sarcolemmal membrane.
 Treatment 12
• Physical Therapy : aim : to keep joints as loose as possible.

Commenced at 3-4 yrs of age , when parents are taught to stretch child’s heel
cords, hip flexors, iliotibial bands on daily basis.
• Night splints can be considered

• Bracing : appropriate use of bracing – delay child’s progression to wheelchair by

approx 2yrs
• Surgery : Reconstructive surgery of the leg often accompanies bracing. The purpose
: to keep leg extended & prevent contractures of iliotibial bands & hip flexors .
• Percutaneous tenotomies of Achilles tendon, knee flexors, hip flexors and iliotibial
bands.
• Pharmacological : Prednisolone improves muscle strength & fn ( 3 yrs .
Deflazacort – synthetic steroid .
 Becker’s Muscular Dystrophy 13

• Less severe form of X-linked recessive muscular dystrophy

results from defects of the same gene responsible for
Duchenne dystrophy
• Incidence : 3 per 1,00,000 live born males.
• The pattern of muscle wasting in Becker muscular dystrophy
closely resembles that seen in Duchenne.
• Proximal muscles, especially of the lower extremities, are
prominently involved.
• As the disease progresses, weakness becomes more generalized
• Hypertrophy of muscles, particularly in the calves, is an early
and prominent finding.
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• Pts first experience difficulties b/w age 5 -15 yrs
• Onset can also occur in 3rd or 4th decade or even later.
• Pts with Becker dystrophy walk beyond age 15, while
patients with Duchenne dystrophy are typically in a
wheelchair by the age of 12.
• Frequent complaint in teenagers with BMD is leg cramps
& muscle pains
• Significant proportion of these pts have cardiomyopathy .
• Some present with heart failure only .
• Others : hyper CK – emia, myalgia without weakness &
myoglobinuria.
 Diagnosis & Treatment 15

• Western blot analysis of muscle biopsy: reduced

amount or abnormal size of dystrophin
• Mutation analysis of DNA from peripheral blood
leukocytes
• Quantification of dystrophin in muscle – as in
BMD , dystrophin may not be absent but reduced
in amount / abnormal in size.
• Treatment : less aggressive physiotherapy ,
corticosteroids , bracing genetic counscelling
 Emery – Dreifuss Dystrophy 16

• Emerin deficiency( a lamina associated structural protein )

• X linked recessive disease
• Responsible gene – on long arm of X chromosome, close to centromere
• Clinical features :
 Wasting & weakness of upper arms, shoulders, ant.compartment muscles in
legs.
 Associated contractures,early in elbows, posterior part of neck, paraspinal
muscles & achilles tendon
 Elbow contractures are characteristic
 Slowly progressive
 Cardiac complications frequent – Conduction block, atrial paralysis , sudden
cardiac death
 Female carriers may develop cardiac abnormality at a later age.
 Severity of cardiac complications – increase with age
Emery – Dreifuss Dystrophy 17
 Diagnosis & Treatment 18

• Diagnosis :
 DNA Studies : to demonstrate defect in the gene
 Skin Biopsy : to demonstrate absence of emerin
 Muscle Biopsy
 EMG
 S.CK – elevated
 ECG – repeated at regular intervals
• Treatment
• Cardiac pacemaker
• Supportive care for the neuromuscular disability
Facioscapulohumeral Dystrophy 19

• Autosomal dominant disease

• Responsible gene – end of long arm of chromosome 4

• Genetic abnormality – deletion

• Severity of illness – related to size of deletion:

smallest fragments – severe disease

• Onset : childhood / young adulthood

 Clinical Features 20
 Facial weakness is the initial manifestation – inability to
smile,whistle,fully close the eyes
 Weakness of shoulder girdles usually brings pt to medical attention
 Loss of scapular stabilizer muscles makes arm elevation difficult.
 Scapular winging – with attempts at abduction & forward movement of
arms.
 Biceps & triceps severely affected with relative sparing of deltoid
muscles.
 Weakness worst for wrist extension
 Weakness of ant.compartment muscles of legs – footdrop
 Weakness of hip flexors , quadriceps , ankle dorsiflexors +
 But plantar flexors strength is preserved
 Children might lose ability to walk by 9-10 yrs.
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• Extreme lumbosacral lordosis seen when child walks / stands.

• Diagnosis :

 DNA studies

 EMG

 Muscle Biopsy: tiny fibres scattered throughout / scattered

inflammatory cellular foci associated with muscle fibres

 S.CK levels: elevated

 Treatment : 24

• Supportive

• If pt unable to lift arms above head – surgical stabilization

of scapula

• Ankle-foot orthoses – footdrop

• Surgical transposition of posterior tibial tendon to dorsum

of foot – for pts with marked intorsion of foot while
walking
 Scapuloperoneal Syndrome 25

• Autosomal dominant disease / X linked recessive

pattern
• Weakness of shoulder muscles & ant.compartment
of lower legs – early symptoms
• Weak ankle dorsiflexors but strong plantar flexors
• Facial weakness – minor
• Often , pt present with foot drop & shoulder
weakness
• Treatment : ankle foot orthoses and other
supportive treatment
 Oculopharyngeal Dystrophy 26

• Autosomal dominant disorder

• Hallmark of illness “ presence of small intraocular
tubulofilaments. These occur as palisading filamentous
inclusions”
• Clinical Features :
 Begins at 30-40 yrs with weakness of eye muscles & mild
ptosis
 Ptosis – asymmetrical initially, as muscles weaken, both lids
become severe ptotic , eye movements are diminished in all
directions.
 Later , pt develops difficulty in swallowing.
 Death – starvation , emaciation – pneumonia following
aspiration
 Diagnosis : 27

• Muscle Biopsy : muscle fibres contain rimmed vacuoles

• By electron microscopy : accumulation of glycogen & other
nonspecific debris related to lysosomes
• EMG – typical myopathic
• S.CK – Elevated
• Tensilon test & repetitive nerve stimulation test for abn
fatigue of evoked potential – to differentiate from
myasthenia gravis
• Treatment :
• Supportive
• Swallowing difficulties : initially managed by taking soft
diet. Later – nasogastric tube , gastrostomy.
 Congenital Muscular
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Dystrophies

• A group of diseases that often appear at birth with hypotonia &

severe trunk & limb weakness.

• Contractures of joints are prominent – particularly at ankle,

knees & hips

• MR may be present

• MRI brain – increase in signal from the white matter in many pts.

• All are autosomal recessive

 Myotonic Dystrophy 29

• Also known as dystrophia myotonica

• Composed of 2 clinical disorders with overlapping
phenotypes & distinct molecular genetic defects :
1. DM1- the classic disease
2. DM2- proximal myotonic myopathy
• Autosomal dominant disease
• Responsible gene – chr 19q13.3
• CTG trinucleotide repeats
 Myotonic Dystrophy
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clinical features
• Hatchet-faced appearance d/t temporalis, masseter, facial
muscle atrophy & weakness
• Frontal baldness
• Neck muscles, sternocleidomastoids & distal limb muscles –
involved early
• Weakness of wrist & finger extensors, intrinsic muscles of hand
• Ankle dorsiflexors weakness – foot drop
• Proximal muscles remain strong all throughout the course of
disease
• Palatal,pharyngeal & tongue inv produce a dysarthric speech,
nasal voice & swallowing problems
• Diaphragm & intercostal muscle weakness – resp insuff
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 Myotonic Dystrophy 32

• Myotonia appears by age 5 yrs – percussion of thenar

eminence , tongue, wrist extensor muscles
• Myotonia causes slow relaxation of hand grip after a
forced voluntary closure
• Cardiac disturbances
• 1st degree heart block, complete heart block, sudden
cardiac death
• MVP is common
• Intellectual impairment, hypersomnia, posterior
subcapsular cataract, gonadal atrophy, insulin
resistance, decreased esophageal & colonic motility
 Treatment 33

• Supportive treatment – ankle foot orthoses to

treat foot drop
• Breathing exercises & postural drainage – in
severe myotonia to ward off frequent
respiratory infections.
• Quinine, phenytoin, procainamide, mexiletine &
acetazolamide – to treat myotonia
• Cardiac pacemaker- in pts with unexplained
syncope, conduction system defects.
 Limb-Girdle Muscular
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Dystrophies

• Both males & females are affected

• Onset – ranging from late in 1st decade to 4th decade

• Progressive weakness of pelvic & shoulder girdle

musculature.

• Respiratory insufficiency , cardiomyopathy

• Presently there are 5 autosomal dominant & 10 autosomal

recessive disorders
 Autosomal dominant LGMDS 35

• LGMD1A
• LGMD1B
• LGMD1C
• LGMD1D
• LGMD1E
• LGMD2A
• LGMD2B
• LGMD2C-F
• LGMD2G
• LGMD2H
• LGMD2J
• LGMD2I
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Thank You