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Autosomal recessive limb-girdle muscular dystrophy type 2F

MONDO:0011028

Autosomal recessive limb-girdle muscular dystrophy type 2F (LGMD2F) is 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.

Also known as: delta-sarcoglycanopathy, LGMD2F, SGCD autosomal recessive limb-girdle muscular dystrophy, autosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCD, limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency, muscular dystrophy, limb-girdle, autosomal recessive 6, limb-girdle muscular dystrophy type 2F, muscular dystrophy limb-girdle with delta-sarcoglyan deficiency

16 clinical trials for this condition and its sub-types, 2 tagged with Autosomal recessive limb-girdle muscular dystrophy type 2F itself.

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↑ Familial dilated cardiomyopathy (61) ↑ Autosomal recessive limb-girdle muscular dystrophy (18) ↑ Qualitative or quantitative defects of delta-sarcoglycan (2)
Including sub-types (16) Tagged with Autosomal recessive limb-girdle muscular dystrophy type 2F (2)
Trials to join now! 11 Not yet finished but already full! 4 Completed 1
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