| Symbol
| DSMAVA
|
| Location
| 7p14.3
|
| Name
|
distal spinal muscular atrophy, type VA |
| Other name(s)
|
spinal muscular atrophy, distal, with upper limb predominance |
| Corresponding gene
|
GARS
|
| Other symbol(s)
| DHMN5A, DHMNVA, DSMA, SMAD1, DSMA5
|
| Main clinical features
|
characterized by marked bilateral weakness in the hands and atrophy of thenar eminence in the first interosseous muscle (hereditary motor neuropathy, type V), likely allelic to CMT2D |
| Genetic determination
| autosomal dominant |
| Function/system disorder
| neurology |
| Type
| disease
|