Telethonin-related limb-girdle muscular dystrophy R7

Orpha code: 34514OMIM code: 601954

Definition

A mild subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable onset (ranging from infancy to adolescence) of progressive proximal upper and lower limb muscle weakness and atrophy. Mild scapular winging, calf hypertrophy, and lack of respiratory and cardiac involvement are also observed.

Disease data
Classification

Disease

Synonyms
Autosomal recessive limb-girdle muscular dystrophy type 2G
Dystrofia obręczowo-kończynowa z powodu niedoboru teletoniny
LGMD2G
LGMD due to telethonin deficiency
LGMD type 2G
LGMD2G
Limb-girdle muscular dystrophy due to telethonin deficiency
Limb-girdle muscular dystrophy type 2G
Telethonin-related LGMD R7
ORPHA code
34514
OMIM code
601954
ICD10 code
G71.0
ICD11 code
8C70.41

No additional description.

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