Spheroid body myopathy

Orpha code: 268129OMIM code: 182920

Definicja

Spheroid body myopathy is a rare form of myofibrillar myopathy characterized by predominantly proximal muscle weakness (that could be either non- or slowly progressive), associated with spheroid body inclusions (composed of myofilamentous material within individual muscle fibers) in skeletal muscle biopsy. Presentation is varied and may range from asymptomatic to severe muscle weakness that manifests with absent Achilles reflexes, gait abnormality and/or other motor incapacitations.

Disease data
Klasyfikacja

Disease

Kod ORPHA
268129
Kod OMIM
182920
Kod ICD10
G71.8
Kod ICD11
8C72.0Y

No additional description.

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