PEDBASE.org - The Pediatric Database - Detailed information of CONGENITAL MUSCULAR DYSTROPHY

CONGENITAL MUSCULAR DYSTROPHY

DEFINITION:

A heterogeneous group of congenital disorders characterized by the appearance of generalized hyptonia and muscle weakness within the first few weeks of life.

EPIDEMIOLOGY:

incidence: ?
age of onset:
- newborn -> early childhood
risk factors:
- familial - autosomal recessive
  - chrom.#: ?
  - gene: ?
  - also sporadic and autosomal dominant forms

PATHOGENESIS:

1. Genetic Defect

genetic defect -> ? etiology

PATHOLOGY:

1. Muscle Biopsy

degeneration and regeneration (extensive dystrophic changes)
- atrophy, increased fibre size variability, necrosis, internal nuclei, myofibrillar splitting
- proliferation of adipose tissue and endomysial and perimysial connective tissue

CLINICAL FEATURES:

1. Neurological Manifestations

infantile hypotonia
muscle weakness and wasting
- slowly progressive, static, or slow improvement
- proximal > distal muscle groups
- wide range in clinical features
  - variable sucking, swallowing, respiratory distress, and ophthalmoplegia
- gross motor developmental delay
- positive Gower's sign
- thin muscle mass in trunk and extremities
mental retardation
deep tendon reflexes absent or diminished
hydrocephalus and fundal changes

2. Musculoskeletal Manifestations

congenital dislocation of the hips
fixed deformities (arthrogryposis) -> flexion contractures
hypermobility of joints
scoliosis

INVESTIGATIONS:

1. Serum

normal or mildly elevated CPK

2. EMG

myopathic - small amplitude, polyphasic potentials

3. Nerve Conduction Studies

normal

MANAGEMENT:

1. Supportive

multidisciplinary approach
- Paediatrics - promote ambulation and physiotherapy, moniter deformities, bracing
- Surgery - moniter and correct deformities
- Genetics - genetic counselling, prenatal diagnosis

Pediatric Database - CONGENITAL MUSCULAR DYSTROPHY

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