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

Spinal muscular atrophy (SMA)
Werdning-Hoffman disease (SMA1)
Spinal muscular atrophy type II (SMA2)
Kugeleberg-Welander disease (SMA3)
Spinal muscular atrophy type IV (SMA4)
X-linked SMA (SMAX)
SMA proximal adult autosomal dominant (SMAPAD)
SMA, lower extremity-predominant, autosomal dominant (SMALED)
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.
Neurodegenerative disease
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
RNA transport
(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]
Nusinersen sodium [DR:D10791]
About SMAX1, please refer to H00062, for detail.
See also H00856 Distal hereditary motor neuropathies (dHMN).
Other DBs
Stavarachi M, Apostol P, Toma M, Cimponeriu D, Gavrila L
Spinal muscular atrophy disease: a literature review for therapeutic strategies.
J Med Life 3:3-9 (2010)
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
Rare missense and synonymous variants in UBE1 are associated with X-linked infantile spinal muscular atrophy.
Am J Hum Genet 82:188-93 (2008)
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
Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy.
Am J Hum Genet 86:343-52 (2010)
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
Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C.
Nat Genet 42:160-4 (2010)
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
Correlation of SMN2, NAIP, p44, H4F5 and Occludin genes copy number with spinal muscular atrophy phenotype in Tunisian patients.
Eur J Paediatr Neurol 16:167-74 (2012)
PMID:22459677 (gene)
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
Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy.
Neurology 78:1714-20 (2012)
PMID:23664116 (gene)
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
Mutations in BICD2, which encodes a golgin and important motor adaptor, cause congenital autosomal-dominant spinal muscular atrophy.
Am J Hum Genet 92:946-54 (2013)

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