Congenital muscular dystrophy type 1D
Incidence
It is autosomal recessive. This is an exceptionally rare form of congenital muscular dystrophy.
Clinical Characteristics
Only a single case of muscular dystrophy congenital type 1D has been reported thus far. This is a 17-year-old girl who presented with congenital muscular dystrophy, profound mental retardation, white matter changes, and subtle structural abnormalities on brain MRI. She presented with weakness and hypotonia at 5 months of age. She achieved independent ambulation with marked delay but since the age of 8 years has suffered progressive weakness and is currently only able to walk for short distances. An abnormal electroretinogram suggested eye abnormalities. This is an exceptionally rare form of congenital muscular dystrophy. It is due to defects of glycosyltransferases (dystroglycanopathies).
Precipitants
None
Provocation Tests
None
Diagnostic Procedures
Serum CK levels are markedly elevated. The muscle biopsy will show the typical features of other dystroglycanopathies. Mutation analysis of the LARGE gene is necessary to confirm the diagnosis.