Charcot-Marie-Tooth disease type 2D
Charcot-Marie-Tooth disease type 2D
Definition
Autosomal dominant Charcot-Marie-Tooth disease type 2D (CMT2D) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal weakness primarily and predominantly occurring in the upper limbs and tendon reflexes absent or reduced in the arms and decreased in the legs. Progression is slow.
Also known as autosomal dominant Charcot-Marie-Tooth disease type 2D, Charcot-Marie-Tooth disease type 2 caused by mutation in GARS, Charcot-Marie-Tooth disease, type 2D, CMT2D, GARS Charcot-Marie-Tooth disease type 2 — per MONDO
Also identified as
- DOID 0110164 per MONDO
- MESH C537993 per MONDO
- NCIT C122659 per MONDO
- OMIM 601472 per MONDO
- Orphanet 99938 per MONDO
- SCTID 717011006 per MONDO
- UMLS C1832274 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 |