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Muscle involvement in mucolipidosis IV
R Weitz1, I Kramer, I Nissenkorn
1Pediatric Neurology Unit, Beilinson Medical Center, Petah Tiqva, Israel.
Brain & Development
|January 1, 1990
Abstract:
A 15-month-old boy, thought to have a congenital myopathy, was subsequently diagnosed as having mucolipidosis type IV, with typical membranous inclusions in muscle fibers. Involvement of skeletal muscle in this lysosomal storage disease may explain the motor delay and hypotonia that are its most common presenting signs.
Insights
Mucolipidosis type IV, a lysosomal storage disease, can mimic congenital myopathy in infants. Skeletal muscle involvement explains common symptoms like motor delay and hypotonia.
Area of Science:
- Neurology
- Genetics
- Cell Biology
Background:
- Congenital myopathies are a group of neuromuscular disorders characterized by muscle weakness present from birth.
- Lysosomal storage diseases are a class of inherited metabolic disorders that result from defects in lysosomal function.
- Mucolipidosis type IV (ML4) is a rare autosomal recessive lysosomal storage disease with multisystemic involvement.