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Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
rareFukuyama type muscular dystrophy (FCMD) is a congenital progressive muscular dystrophy characterized by brain malformation (cobblestone lissencephaly), dystrophic changes in skeletal muscle, severe intellectual deficit, epilepsy and motor impairment.
- Identifiers
- MONDO:0009678 OMIM:253800Orphanet:272
- Part of
- Muscle-eye-brain diseaseMuscular dystrophy-dystroglycanopathy, type AMyopathy caused by variation in FKTN
- Also known as
- FCMD · Fukuyama congenital muscular dystrophy · Fukuyama Type Congenital Muscular Dystrophy · MDDGA4 · muscle-eye-brain-FKTN related
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