Delta-sarcoglycan-related limb-girdle muscular dystrophy R6

Orpha code: 219OMIM code: 601287

Definition

A subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable age of onset of progressive weakness and wasting of the proximal skeletal muscles of the shoulder and pelvic girdles, frequently associated with progressive respiratory muscle impairment and cardiomyopathy. Calf hypertrophy, muscle cramps and elevated serum creatine kinase levels are also observed. Neuropsychomotor development is usually normal.

Disease data
Classification

Disease

Synonyms
Autosomal recessive limb-girdle muscular dystrophy type 2F
Delta-sarkoglikanopatia
Dystrofia obręczowo-kończynowa z powodu niedoboru delta-sarkoglikanu
LGMD2F
Delta-sarcoglycan-related LGMD R6
Delta-sarcoglycanopathy
LGMD due to delta-sarcoglycan deficiency
LGMD type 2F
LGMD2F
Limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency
Limb-girdle muscular dystrophy type 2F
ORPHA code
219
OMIM code
601287
ICD10 code
G71.0
ICD11 code
8C70.41

No additional description.

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