Myotonic dystrophy type 2
Myotonic dystrophy type 2
Definition
Myotonic dystrophy type 2 (MD2), also known as proximal myotonic myopathy, is a very rare genetic multi-system disorder of late childhood or adult-onset characterized by mild myotonia, muscle weakness, and rarely cardiac conduction disorders.
Also known as CNBP myotonic dystrophy, myotonic dystrophy caused by mutation in CNBP, myotonic dystrophy type 2, proximal myotonic dystrophy, proximal myotonic myopathy, ricker disease, ricker syndrome — per MONDO
Also identified as
- DOID 0050759 per MONDO
- ICD9 359.2 per MONDO
- NCIT C84680 per MONDO
- OMIM 602668 per MONDO
- Orphanet 606 per MONDO
- UMLS C2931689 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 |