Congenital muscular dystrophy with cerebellar involvement

Orpha code: 370959OMIM code: 615351

Definicja

Congenital muscular dystrophy with cerebellar involvement is a rare, congenital muscular dystrophy due to dystroglycanopathy characterized by proximal muscle weakness with a tendency for muscle hypertrophy and pseudohypertrophy, variable cognitive impairment, microcephaly, cerebellar hypoplasia with or without cysts, and other structural brain anomalies.

Disease data
Klasyfikacja

Disease

Synonimy
CMD with cerebellar involvement
CMD z udziałem móżdżku
CMD-CRB
CMD-CRB
Kod ORPHA
370959
Kod OMIM
615351
Kod ICD10
G71.2
Kod ICD11
-

No additional description.

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