Spinal muscular atrophy with lower extremity predominance 1
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]
| Spinal muscular atrophy with lower extremity predominance 1 | |
|---|---|
| Other names | Lower extremity predominant spinal muscular atrophy type 1, SMALED1 |
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| Spinal muscular atrophy with lower extremity predominance is inherited in an autosomal dominant manner. | |
| Specialty | Neurology |
| Symptoms | Progressive muscle atrophy in legs |
| Usual onset | Infancy |
| Causes | Mutation in DYNC1H1 gene |
| Diagnostic method | Molecular test |
The disorder is associated with a genetic mutation in the DYNC1H1 gene (the gene responsible also for one of the axonal types of Charcot–Marie–Tooth disease)[2][3] and is inherited in an autosomal dominant manner. As with many genetic disorders, there is no known cure to SMALED1.
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
References
- Online Mendelian Inheritance in Man (OMIM): 158600
- Harms MB, Ori-McKenney KM, Scoto M, Tuck EP, Bell S, Ma D, Masi S, Allred P, Al-Lozi M, Reilly MM, Miller LJ, Jani-Acsadi A, Pestronk A, Shy ME, Muntoni F, Vallee RB, Baloh RH (2012). "Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy". Neurology. 78 (16): 1714–20. doi:10.1212/WNL.0b013e3182556c05. PMC 3359582. PMID 22459677.
- Tsurusaki, Y.; Saitoh, S.; Tomizawa, K.; Sudo, A.; Asahina, N.; Shiraishi, H.; Ito, J. I.; Tanaka, H.; Doi, H.; Saitsu, H.; Miyake, N.; Matsumoto, N. (2012). "A DYNC1H1 mutation causes a dominant spinal muscular atrophy with lower extremity predominance". Neurogenetics. 13 (4): 327–332. doi:10.1007/s10048-012-0337-6. PMID 22847149.
- Timme, W. (1917). "Progressive Muscular Dystrophy As an Endocrine Disease". Archives of Internal Medicine: 79–104. doi:10.1001/archinte.1917.00080200084004. hdl:10192/31015.
- Harms, M. B.; Allred, P.; Gardner, R.; Fernandes Filho, J. A.; Florence, J.; Pestronk, A.; Al-Lozi, M.; Baloh, R. H. (2010). "Dominant spinal muscular atrophy with lower extremity predominance: Linkage to 14q32". Neurology. 75 (6): 539–546. doi:10.1212/WNL.0b013e3181ec800c. PMC 2918478. PMID 20697106.
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