Spinal muscular atrophy with lower extremity predominance

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Spinal muscular atrophy with lower extremity predominance
Classification and external resources
OMIM 158600

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.[1]

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 SMA-LED.

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[edit]

Spinal muscular atrophies

References[edit]

  1. ^ a b Online 'Mendelian Inheritance in Man' (OMIM) 158600
  2. ^ 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.  edit
  3. ^ 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.  edit
  4. ^ Timme, W. (1917). "Progressive Muscular Dystrophy As an Endocrine Disease". Archives of Internal Medicine: 79–70. doi:10.1001/archinte.1917.00080200084004.  edit
  5. ^ 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.  edit