autosomal dominant limb-girdle muscular dystrophy type 1F
Autosomal dominant limb-girdle muscular dystrophy type 1F (LGMD1F) is a subtype of autosomal dominant limb-girdle muscular dystrophy,with a variable age of onset, characterized by progressive, proximal weakness and wasting of the shoulder and pelvic musculature (with the pelvic girdle, and especially the ileopsoas muscle, being more affected) and frequent association of calf hypertrophy, dysphagia, arachnodactyly with or without finger contractures and/or distal and axial muscle involvement. Additional features include an abnormal gait, exercise intolerance, myalgia, fatigue and respiratory insufficiency. Cardiac conduction defects are typically not observed.
MONDO:0015151
muscular dystrophy, limb-girdle, autosomal dominant
is_a
LGMD1F
exact
limb-girdle muscular dystrophy type 1F
related
muscular dystrophy, limb-girdle, autosomal dominant 2
exact
muscular dystrophy, limb-girdle, type 1F
related
SPBC11G11.07