DNAJB6-related limb-girdle muscular dystrophy D1

Orpha code: 34516OMIM code: 603511

Definition

A subtype of autosomal dominant limb-girdle muscular dystrophy characterized by an adult-onset of slowly progressive, proximal pelvic girdle weakness, with none, or only minimal, shoulder girdle involvement, and absence of cardiac and respiratory symptoms. Mild to moderate elevated creatine kinase serum levels and gait abnormalities are frequently observed.

Disease data
Classification

Disease

Synonyms
Autosomal dominant limb-girdle muscular dystrophy type 1D
LGMD1D
DNAJB6-related LGMD D1
LGMD type 1D
LGMD1D
Limb-girdle muscular dystrophy type 1D
ORPHA code
34516
OMIM code
603511
ICD10 code
G71.0
ICD11 code
-

No additional description.

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