Spinal muscular atrophy with lower extremity predominance 1

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Spinal muscular atrophy with lower extremity predominance 1
Other namesLower extremity predominant spinal muscular atrophy type 1, SMALED1
Autosomal dominant - en.svg
Spinal muscular atrophy with lower extremity predominance is inherited in an autosomal dominant manner.
SpecialtyNeurology
SymptomsProgressive muscle atrophy in legs
Usual onsetInfancy
CausesMutation in DYNC1H1 gene
Diagnostic methodMolecular 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 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.[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

References

  1. ^ a b Online Mendelian Inheritance in Man (OMIM): 158600
  2. ^ 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.
  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.
  4. ^ 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.
  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.
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