spheroid body myopathy

Pathology

• muscle biopsy shows spheroid bodies within the type 1 muscle fibers

Genetics

• autosomal dominant
• associated with defects in myotilin gene

Clinical manifestations

• slowly progressing proximal muscle weakness
• dysarthric nasal speech
• no evidence of cardiomyopathy

More general terms

• genetic disease of muscle (inherited myopathy)

Database

• OMIM: https://mirror.omim.org/entry/182920