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Limb-girdle muscular dystrophy (LGMD) is a diverse group of disorders with many subtypes categorized by disease gene and inheritance. LGMD usually manifests in the proximal muscles around the hips and shoulders.
Limb-girdle muscular dystrophy type 2 includes forms of the disorder that have an inheritance pattern called autosomal recessive. Calpainopathy, or limb-girdle muscular dystrophy type 2A, is caused by mutations in the CAPN3 gene. Type 2A is the most common form of limb-girdle muscular dystrophy, accounting for
Limb-girdle muscular dystrophy type 2A (LGMD2A) is an autosomal recessive limb-girdle muscular dystrophy characterized by progressive, symmetrical weakness of the proximal limb and girdle muscles (mainly those around the hips and shoulders) without heart involvement or intellectual disability.
The diagnosis of limb-girdle muscular dystrophy can be done via muscle biopsy, which will show the presence of muscular dystrophy, and genetic testing is used to determine which type of muscular dystrophy a patient has. Immunohistochemical dystrophin tests can indicate a decrease in dystrophin detected in sarcoglycanopathies.
Limb-girdle muscular dystrophy (LGMD) is a group of distinct diseases that cause weakness and wasting of the muscles, generally starting with the muscles around the hips and shoulders and eventually progressing to the arms and legs. However, some subtypes start distally at the leg or arm muscles and then progress to the hip and shoulder muscles.
Limb-girdle muscular dystrophy (LGMD) is the name given to a varied collection of neuromuscular disorders with different genetic causes. The limb-girdle is the bony structure surrounding the shoulder and hip joints. LGMD is characterized by muscle atrophy in the limb-girdle regions of the body, or in the muscles around the shoulders and hips.