Spinal muscular atrophy with lower extremity predominance 1
| Spinal muscular atrophy with lower extremity predominance 1 | |
|---|---|
| Other names | Lower extremity predominant spinal muscular atrophy type 1, SMALED1 |
autosomal dominant manner. | |
| Specialty | Neurology |
| Symptoms | Progressive muscle atrophy in legs |
| Usual onset | Infancy |
| Causes | Mutation in DYNC1H1 gene |
| Diagnostic method | Molecular test |
Spinal muscular atrophy with lower extremity predominance 1 (SMALED1) is an extremely rare neuromuscular disorder of infants characterised by severe progressive muscle atrophy which is especially prominent in legs.[1]
The disorder is associated with a genetic
autosomal dominant manner. As with many genetic disorders, there is no known cure to SMALED1.[citation needed
]
The condition was first described in a multi-generational family by Walter Timme in 1917.[4] Its linkage to the DYNC1H1 gene was discovered in 2010 by M. B. Harms, et al., who also proposed the current name of the disorder.[1][5]
See also
- Spinal muscular atrophies
- Spinal muscular atrophy with lower extremity predominance 2A
- Spinal muscular atrophy with lower extremity predominance 2B
References
- ^ a b Online Mendelian Inheritance in Man (OMIM): 158600
- PMID 22459677.
- S2CID 254112503.
- hdl:10192/31015.
- PMID 20697106.
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