Congenital muscular dystrophy, Fukuyama type

Orpha code: 272OMIM code: 253800

Definition

Fukuyama 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.

Disease data
Classification

Malformation syndrome

Synonyms
FCMD
FCMD
Wrodzona dystrofia mięśniowa Fukuyamy
FKTN-related congenital muscular dystrophy
Fukuyama congenital muscular dystrophy
ORPHA code
272
OMIM code
253800
ICD10 code
G71.0
ICD11 code
-

No additional description.

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