Oculogastrointestinal muscular dystrophy

Orpha code: 1876OMIM code: 277320

Definition

Oculogastrointestinal muscular dystrophy is an extremely rare autosomal recessively inherited neuromuscular disease characterized by ocular manifestations such as ptosis and diplopia followed by chronic diarrhea, malnutrion and intestinal peudo-obstruction.

Disease data
Classification

Disease

Synonyms
Visceral myopathy-familial external ophthalmoplegia syndrome
Miopatia trzewna - rodzinna zewnętrzna oftalmoplegia
ORPHA code
1876
OMIM code
277320
ICD10 code
G71.0
ICD11 code
DA90.2

No additional description.

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