Autosomal recessive limb-girdle muscular dystrophy type 2A

Autosomal recessive limb-girdle muscular dystrophy type 2A

Definition

Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMD2A) is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by a variable age of onset of progressive, typically symmetrical and selective weakness and atrophy of proximal shoulder- and pelvic-girdle muscles (gluteus maximus, thigh adductors, and muscles of the posterior compartment of the limbs are most commonly affected) without cardiac or facial involvement. Clinical manifestations include exercise intolerance, a waddling gait, scapular winging and calf pseudo-hypertrophy.

Also known as autosomal recessive limb-girdle muscular dystrophy caused by mutation in CAPN3, autosomal recessive limb-girdle muscular dystrophy type 2A, calpainopathy, CAPN3 autosomal recessive limb-girdle muscular dystrophy, Leyden-Moebius muscular dystrophy, LGMD2A, limb-girdle muscular dystrophy due to calpain deficiency, limb-girdle muscular dystrophy type 2A, muscular dystrophy, limb-girdle, autosomal recessive 1, muscular dystrophy, limb-girdle, type 2A, primary calpainopathy — per MONDO

Also identified as

Affected Organs

Organ Involvement Source
Musculature Disease Has Associated Anatomic Site NCIT · CC BY 4.0
Musculature Disease Has Primary Anatomic Site NCIT · CC BY 4.0
Musculoskeletal system Disease Has Associated Anatomic Site NCIT · CC BY 4.0
Musculoskeletal system Disease Has Primary Anatomic Site NCIT · CC BY 4.0
Nervous system Disease Has Associated Anatomic Site NCIT · CC BY 4.0
Nervous system Disease Has Primary Anatomic Site NCIT · CC BY 4.0
Peripheral nervous system Disease Has Associated Anatomic Site NCIT · CC BY 4.0
Peripheral nervous system Disease Has Primary Anatomic Site NCIT · CC BY 4.0