Case report of congenital muscular dystrophy with peripheral nerve involvement
Abstract
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.
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