Congenital muscular dystrophy with cerebellar involvement

Orpha code: 370959OMIM code: 615351

Definition

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
Classification

Disease

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

No additional description.

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