Autosomal recessive limb-girdle muscular dystrophy type 2B

Autosomal recessive limb-girdle muscular dystrophy type 2B

Definition

Autosomal recessive limb-girdle muscular dystrophy type 2B (LGMD2B) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by an onset in late adolescence or early adulthood of slowly progressive, proximal weakness and atrophy of shoulder and pelvic girdle muscles. Cardiac and respiratory muscles are not involved. Hypertrophy of the calf muscles and highly elevated serum creatine kinase levels are frequently observed.

Also known as autosomal recessive limb-girdle muscular dystrophy caused by mutation in DYSF, DYSF autosomal recessive limb-girdle muscular dystrophy, LGMD2B, LGMD3, limb-girdle muscular dystrophy due to dysferlin deficiency, limb-girdle muscular dystrophy type 2B, muscular dystrophy, limb-girdle, autosomal recessive 2 — 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