Spheroid body myopathy

Orpha code: 268129OMIM code: 182920

Definition

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
Classification

Disease

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

No additional description.

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