HNRNPDL-related limb-girdle muscular dystrophy D3

Orpha code: 55596OMIM code: 609115

Definition

A rare, mild subtype of autosomal dominant limb-girdle muscular dystrophy characterized by a typically adult onset of mild, progressive, proximal weakness of pelvic and shoulder girdle muscles and progressive, permanent finger and toes flexion limitation without flexion contractures. Normal to highly elevated creatine kinase serum levels are observed.

Disease data
Classification

Disease

Synonyms
Autosomal dominant limb-girdle muscular dystrophy type 1G
LGMD1G
HNRNPDL-related LGMD D3
LGMD type 1G
LGMD1G
Limb-girdle muscular dystrophy type 1G
ORPHA code
55596
OMIM code
609115
ICD10 code
-
ICD11 code
-

No additional description.

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