Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy

Orpha code: 329336OMIM code: 616479

Definition

A rare mitochondrial disease characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, manifestations of spinocerebellar ataxia (e.g. impaired gait, dysarthria) and mild motor peripheral neuropathy. Respiratory insufficiency has been reported in some cases.

Disease data
Classification

Disease

Synonyms
Adult-onset CPEO with mitochondrial myopathy
CPEO o początku w wieku dorosłym z miopatią mitochondrialną
ORPHA code
329336
OMIM code
616479
ICD10 code
G71.3
ICD11 code
-

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl