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 |
 | |
| 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.[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
editReferences
edit- ^ a b 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 22459677.1714-20&rft.date=2012&rft_id=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3359582#id-name=PMC&rft_id=info:pmid/22459677&rft_id=info:doi/10.1212/WNL.0b013e3182556c05&rft.aulast=Harms&rft.aufirst=MB&rft.au=Ori-McKenney, KM&rft.au=Scoto, M&rft.au=Tuck, EP&rft.au=Bell, S&rft.au=Ma, D&rft.au=Masi, S&rft.au=Allred, P&rft.au=Al-Lozi, M&rft.au=Reilly, MM&rft.au=Miller, LJ&rft.au=Jani-Acsadi, A&rft.au=Pestronk, A&rft.au=Shy, ME&rft.au=Muntoni, F&rft.au=Vallee, RB&rft.au=Baloh, RH&rft_id=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3359582&rfr_id=info:sid/en.wikipedia.org:Spinal muscular atrophy with lower extremity predominance 1" class="Z3988">
- ^ 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. S2CID 254112503.327-332&rft.date=2012&rft_id=https://api.semanticscholar.org/CorpusID:254112503#id-name=S2CID&rft_id=info:pmid/22847149&rft_id=info:doi/10.1007/s10048-012-0337-6&rft.aulast=Tsurusaki&rft.aufirst=Y.&rft.au=Saitoh, S.&rft.au=Tomizawa, K.&rft.au=Sudo, A.&rft.au=Asahina, N.&rft.au=Shiraishi, H.&rft.au=Ito, J. I.&rft.au=Tanaka, H.&rft.au=Doi, H.&rft.au=Saitsu, H.&rft.au=Miyake, N.&rft.au=Matsumoto, N.&rfr_id=info:sid/en.wikipedia.org:Spinal muscular atrophy with lower extremity predominance 1" class="Z3988">
- ^ Timme, W. (1917). "Progressive Muscular Dystrophy As an Endocrine Disease". Archives of Internal Medicine. XIX: 79–104. doi:10.1001/archinte.1917.00080200084004. hdl:10192/31015.79-104&rft.date=1917&rft_id=info:hdl/10192/31015&rft_id=info:doi/10.1001/archinte.1917.00080200084004&rft.aulast=Timme&rft.aufirst=W.&rfr_id=info:sid/en.wikipedia.org:Spinal muscular atrophy with lower extremity predominance 1" class="Z3988">
- ^ 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 20697106.539-546&rft.date=2010&rft_id=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2918478#id-name=PMC&rft_id=info:pmid/20697106&rft_id=info:doi/10.1212/WNL.0b013e3181ec800c&rft.aulast=Harms&rft.aufirst=M. B.&rft.au=Allred, P.&rft.au=Gardner, R.&rft.au=Fernandes Filho, J. A.&rft.au=Florence, J.&rft.au=Pestronk, A.&rft.au=Al-Lozi, M.&rft.au=Baloh, R. H.&rft_id=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2918478&rfr_id=info:sid/en.wikipedia.org:Spinal muscular atrophy with lower extremity predominance 1" class="Z3988">