Neuronopathy, distal hereditary motor, autosomal dominant 1
Neuronopathy, distal hereditary motor, autosomal dominant 1
Definition
An autosomal dominant neurodegenerative disorder characterized by juvenile onset, distal motor weakness without sensory impairment, and anterior horn cell degeneration.
Also known as autosomal dominant distal juvenile spinal muscular atrophy type 1, Charcot-Marie-Tooth disease, spinal, I, DHMN1, distal hereditary motor neuronopathy type I, neuronopathy, distal hereditary motor, type 1 — per MONDO
Also identified as
- DOID 0111200 per MONDO
- MESH C566675 per MONDO
- NCIT C132826 per MONDO
- OMIM 182960 per MONDO
- Orphanet 139518 per MONDO
- UMLS C1866784 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 |