CONGENITAL

MUSCULAR
DYSTROPHY

What is it?
Heterogeneous group disorders of 20 subtypes (depending on gene defect)
Recessive inheritance
Present at birth or early infancy (<1 year) with weakness, hypotonia or
contractures floppy baby
Slowly progressive or non-progressive proximal weakness
Most develop respiratory insufficiency
May be linked with central nervous system - learning difficulties, mental
retardation
Muscle biopsy:
Dystrophy
Marked increase in endomysial and perimysial connective tissue
Variability in fiber size with small, round fibers
Immature muscle fibers
(Uncommon) Necrotic muscle fibers

 Other investigations:
Creatine kinase (elevated in most cases)
Changes in MRI brain periventricular white matter changes, agyria, severe
pontocerebellar hypoplasia
Muscle MRI helps differentiate muscular dystrophies with spinal rigidity
EMG (to confirm myopathy and exclude other diseases) and nerve conduction
studies (usually normal)
Prenatal diagnosis in families with laminin-a2 gene defect, the most common
form of CMD
Genetic testing
Case:
6 year old boy of Middle Eastern descent. Severe scoliosis and respiratory
insufficiency. Requires NG tube feeding. Mental development not in keeping with
age. Contractures of lower limbs unable to move. Has function of upper limbs
although limited and contracted as well. Twin brother also has similar condition.
Has a sister who was also affected who passed away at the age of 7. Hx of other
family members also affected. Mum and Dad (?) consanguineous marriage.

Management
No specific curative treatment
Main areas of required support: neuromuscular, pulmonary function
Neuromuscular: preserve muscle activity, maximise functional ability and prolong
lifespan
Prevention and correction of skeletal abnormalities e.g. scoliosis, foot deformities,
contracture to maintain ambulation
Aggressive use of passive stretching, bracing, and orthopaedic procedures, such as spinal
fusion

Pulmonary
Early monitoring and intervention to treat respiratory insufficiency: bilevel positive airway
pressure or CPAP or tracheostomy

Others: cardiac complications, seizure management, NG feeding, ophthalmologic care,

etc
Orthopaedic surgery for scoliosis and contractures
GET HELP! Ophthalmologist, pulmonologist, cardiologist, orthopedic surgeon,
neurology, dermatologist (patients with CMD with familial junctional epidermolyis
bullosa)