Case report of congenital muscular dystrophy with peripheral nerve involvement

The congenital muscular dystrophies are clinically and genetically heterogeneous group of neuromuscular disorders .Muscle weakness usually presents from birth to early infancy. Affected infants appear floppy with low muscle tone and poor spontaneous movements. Affected persons may present with delay or arrest of gross motor development together with joint or spinal rigidity. Muscle weakness may improve worsen, or stabilize in the short term. With time progressive weakness, spinal deformities, joint contractures and respiratory compromise may affect quality of life and life span. Peripheral neuropathy in patients with congenital muscular dystrophy (CMD) has been sporadically investigated and has been reported. Here we are reporting an interesting case who presented with delayed milestones, early contractures of shoulder, elbow, knee and ankles, electrophysiological evidence of neuropathy and myopathy, elevated creatinine phosphokinase (CPK), biopsy evidence of muscular dystrophy and chronic axonopathy suggestive of CMD with peripheral nerve involvement.