Autosomal recessive limb-girdle muscular dystrophy type 2I

Autosomal recessive limb-girdle muscular dystrophy type 2I

Definition

A subtype of autosomal recessive limb-girdle muscular dystrophy that presents a highly variable age of onset and phenotypic spectrum typically characterized by slowly progressive proximal weakness of the pelvic and shoulder girdle musculature (predominantly affecting the lower limbs), frequently associated with waddling gait, scapular winging, calf and tongue hypertrophy, exercise-induced myalgia, and myoglobinuria and/or elevated creatine kinase serum levels. Abdominal muscle weakness, cardiomyopathy, respiratory muscle involvement and various brain abnormalities have also been reported.

Also known as autosomal recessive limb-girdle muscular dystrophy caused by mutation in FKRP, FKRP autosomal recessive limb-girdle muscular dystrophy, LGMD-FKRP related, LGMD2I, limb-girdle muscular dystrophy due to FKRP deficiency, MDDGC5, muscular dystrophy-dystroglycanopathy (Limb-girdle) type C, 5, muscular dystrophy-dystroglycanopathy (limb-girdle), type C5 — 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