Spinal muscular atrophy with lower extremity predominance
|Spinal muscular atrophy with lower extremity predominance|
|Classification and external resources|
Spinal muscular atrophy with lower extremity predominance (SMA-LED) is an extremely rare neuromuscular disorder of infants characterised by severe progressive muscle atrophy which is especially prominent in legs.
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) and is inherited in an autosomal dominant manner. As with many genetic disorders, there is no known cure to SMA-LED.
The condition was first described in a multi-generational family by Walter Timme in 1917. 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.
- Online 'Mendelian Inheritance in Man' (OMIM) 158600
- Harms M B, Ori-McKenney K M, Scoto M, Tuck E P, Bell S, Ma D, Masi S, Allred P, Al-Lozi M, Reilly M M, Miller L J, Jani-Acsadi A, Pestronk A, Shy M E, Muntoni F, Vallee R B, Baloh R H (2012). "Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy". Neurology 78 (16). doi:10.1212/WNL.0b013e3182556c05. 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: 79–70. doi:10.1001/archinte.1917.00080200084004.
- 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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