KEGG   DISEASE: Spinal muscular atrophy (SMA)Help
Entry
H00455                      Disease                                

Name
Spinal muscular atrophy (SMA), including:
SMA type I (SMA1) / Werdning-Hoffman disease;
SMA type II (SMA2);
SMA type III (SMA3) / Kugeleberg-Welander disease;
SMA type IV (SMA4);
X-linked SMA (SMAX);
SMA proximal adult autosomal dominant (SMAPAD);
SMA, lower extremity-predominant, autosomal dominant (SMALED)
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
Brite
Human diseases [BR:br08402]
 Nervous system diseases
  Neurodegenerative diseases
   H00455  Spinal muscular atrophy (SMA)
Human diseases in ICD-10 classification [BR:br08403]
 6. Diseases of the nervous system (G00-G99)
  G10-G14  Systemic atrophies primarily affecting the central nervous system
   G12  Spinal muscular atrophy and related syndromes
    H00455  Spinal muscular atrophy (SMA)
BRITE hierarchy
Pathway
RNA transport
Gene
(SMA1,2,3,4) SMN1 [HSA:6606] [KO:K13129]
(SMA3) SMN2 [HSA:6607] [KO:K13129]
(SMAX1) AR [HSA:367] [KO:K08557]
(SMAX2) UBE1 [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]
Comment
About SMAX1, please refer to H00062, for detail.
See also H00856 Distal hereditary motor neuropathies (dHMN).
Other DBs
Reference
  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)
Reference
  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
Reference
  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
Reference
  Authors
Auer-Grumbach M, Olschewski A, Papic L, Kremer H, McEntagart ME, Uhrig S, Fischer C, Frohlich E, Balint Z, Tang B, Strohmaier H, Lochmuller H, Schlotter-Weigel B, Senderek J, Krebs A, Dick KJ, Petty R, Longman C, Anderson NE, Padberg GW, Schelhaas HJ, van Ravenswaaij-Arts CM, Pieber TR, Crosby AH, Guelly C
  Title
Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C.
  Journal
Nat Genet 42:160-4 (2010)
DOI:10.1038/ng.508
Reference
  Authors
Amara A, Adala L, Ben Charfeddine I, Mamai O, Mili A, Lazreg TB, H'mida D, Amri F, Salem N, Boughammura L, Saad A, Gribaa M
  Title
Correlation of SMN2, NAIP, p44, H4F5 and Occludin genes copy number with spinal muscular atrophy phenotype in Tunisian patients.
  Journal
Eur J Paediatr Neurol (2011)
DOI:10.1016/j.ejpn.2011.07.007
Reference
PMID:22459677 (gene)
  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
Reference
PMID:23664116 (gene)
  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

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