Distal anoctaminopathy

Orpha code: 399096OMIM code: 613319

Definition

Distal anoctaminopathy is a rare, autosomal recessive distal myopathy characterized by early adult-onset, slowly progressive, often asymmetrical, lower limb muscle weakness initially affecting the calves (with relative anterior muscle sparing) and later proximal muscle involvement, as well as highly elevated creatine kinase (CK) serum levels.

Disease data
Classification

Disease

Synonyms
MMD3
Dystrofia mięśniowa Miyoshi typu 3
MMD3
Miyoshi muscular dystrophy type 3
ORPHA code
399096
OMIM code
613319
ICD10 code
G71.0
ICD11 code
-

No additional description.

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