Autosomal recessive limb-girdle muscular dystrophy type 2D
Autosomal recessive limb-girdle muscular dystrophy type 2D
Definition
Autosomal recessive limb-girdle muscular dystrophy type 2D (LGMD2D) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by childhood onset of progressive proximal weakness of the shoulder and pelvic girdle muscles, resulting in difficulty walking, scapular winging, calf hypertrophy and contractures of the Achilles tendon, which lead to a tiptoe gait pattern. Cardiac and respiratory involvement is rare.
Also known as Alpha-sarcoglycanopathy, autosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCA, DMDA2, LGMD2D, limb-girdle muscular dystrophy due to alpha-sarcoglycan deficiency, limb-girdle muscular dystrophy type 2D, muscular dystrophy, limb-girdle, autosomal recessive 3, muscular dystrophy, limb-girdle, type 2D, SGCA autosomal recessive limb-girdle muscular dystrophy — per MONDO
Also identified as
- DOID 0110278 per MONDO
- NCIT C142081 per MONDO
- OMIM 608099 per MONDO
- Orphanet 62 per MONDO
- SCTID 715340002 per MONDO
- UMLS C2936332 per MONDO
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 |