| H00455 | |
| H number | H00455 |
| Name | Spinal muscular atrophy |
| Description | Spinal muscular atrophy (SMA) is a neuromuscular disease characterized by degeneration of motor neurons, resulting in progressive muscle atrophy and paralysis. The most common form of SMA is caused by mutations of the SMN gene, that encodes the SMN protein, which regulates snRNP assembly. Four types of SMA are recognized depending on the age of onset and the severity of the disease: type I (Werdning-Hoffman), type II (intermediate), type III (Kugeleberg-Welander) and type IV (adult form). Other forms of spinal muscular atrophy are caused by mutation of other genes, some known and others not yet defined. |
| Category | Neurodegenerative disease |
| Network | - |
| Gene | (SMA1,2,3,4) SMN1 [HSA:6606] [KO:K13129] (SMA3) SMN2 [HSA:6607] [KO:K13129] (SMAX1) AR [HSA:367] [KO:K08557] (SMAX2) UBA1 [HSA:7317] [KO:K03178] (SMAX3) ATP7A [HSA:538] [KO:K17686] (SMAPAD) VAPB [HSA:9217] [KO:K10707] (SMALED1) DYNC1H1 [HSA:1778] [KO:K10413] (SMALED2) BICD2 [HSA:23299] [KO:K18739] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | Nusinersen sodium [DR:D10791] Onasemnogene abeparvovec [DR:D11559] (bi-allelic SMN1 mutations) Risdiplam [DR:D11406] |
| Comment | About SMAX1, please refer to H00062, for detail. See also H00856 Distal hereditary motor neuropathies (dHMN). |
| Other DBs | ICD-11: 8B61 ICD-10: G12.0 G12.1 MeSH: D009134 OMIM: 253300 253550 253400 271150 313200 301830 300489 182980 158600 615290 |
| Reference | PMID:20302191 AUTHORS Stavarachi M, Apostol P, Toma M, Cimponeriu D, Gavrila L TITLE Spinal muscular atrophy disease: a literature review for therapeutic strategies. JOURNAL J Med Life 3:3-9 (2010) PMID:12872254 (SMN1) AUTHORS Cusco I, Lopez E, Soler-Botija C, Jesus Barcelo M, Baiget M, Tizzano EF TITLE A genetic and phenotypic analysis in Spanish spinal muscular atrophy patients with c.399_402del AGAG, the most frequently found subtle mutation in the SMN1 gene. JOURNAL Hum Mutat 22:136-43 (2003) DOI:10.1002/humu.10245 PMID:19716110 (SMN2) AUTHORS Prior TW, Krainer AR, Hua Y, Swoboda KJ, Snyder PC, Bridgeman SJ, Burghes AH, Kissel JT TITLE A positive modifier of spinal muscular atrophy in the SMN2 gene. JOURNAL Am J Hum Genet 85:408-13 (2009) DOI:10.1016/j.ajhg.2009.08.002 PMID:2062380 (AR) AUTHORS La Spada AR, Wilson EM, Lubahn DB, Harding AE, Fischbeck KH TITLE Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. JOURNAL Nature 352:77-9 (1991) DOI:10.1038/352077a0 PMID:18179898 (UBA1) AUTHORS Ramser J, Ahearn ME, Lenski C, Yariz KO, Hellebrand H, von Rhein M, Clark RD, Schmutzler RK, Lichtner P, Hoffman EP, Meindl A, Baumbach-Reardon L TITLE Rare missense and synonymous variants in UBE1 are associated with X-linked infantile spinal muscular atrophy. JOURNAL Am J Hum Genet 82:188-93 (2008) DOI:10.1016/j.ajhg.2007.09.009 PMID:20170900 (ATP7A) AUTHORS Kennerson ML, Nicholson GA, Kaler SG, Kowalski B, Mercer JF, Tang J, Llanos RM, Chu S, Takata RI, Speck-Martins CE, Baets J, Almeida-Souza L, Fischer D, Timmerman V, Taylor PE, Scherer SS, Ferguson TA, Bird TD, De Jonghe P, Feely SM, Shy ME, Garbern JY TITLE Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy. JOURNAL Am J Hum Genet 86:343-52 (2010) DOI:10.1016/j.ajhg.2010.01.027 PMID:15372378 (VAPB) AUTHORS Nishimura AL, Mitne-Neto M, Silva HC, Richieri-Costa A, Middleton S, Cascio D, Kok F, Oliveira JR, Gillingwater T, Webb J, Skehel P, Zatz M TITLE A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis. JOURNAL Am J Hum Genet 75:822-31 (2004) DOI:10.1086/425287 PMID:22459677 (DYNC1H1) AUTHORS 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 TITLE Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy. JOURNAL Neurology 78:1714-20 (2012) DOI:10.1212/WNL.0b013e3182556c05 PMID:23664116 (BICD2) AUTHORS Neveling K, Martinez-Carrera LA, Holker I, Heister A, Verrips A, Hosseini-Barkooie SM, Gilissen C, Vermeer S, Pennings M, Meijer R, te Riele M, Frijns CJ, Suchowersky O, MacLaren L, Rudnik-Schoneborn S, Sinke RJ, Zerres K, Lowry RB, Lemmink HH, Garbes L, Veltman JA, Schelhaas HJ, Scheffer H, Wirth B TITLE Mutations in BICD2, which encodes a golgin and important motor adaptor, cause congenital autosomal-dominant spinal muscular atrophy. JOURNAL Am J Hum Genet 92:946-54 (2013) DOI:10.1016/j.ajhg.2013.04.011 |