| 词条 | Distal spinal muscular atrophy type 2 |
| 释义 |
| synonyms = Autosomal recessive distal spinal muscular atrophy type 2 | name = Distal spinal muscular atrophy type 2 | image = Autosomal recessive - en.svg | image_size = 130px | caption = This condition is inherited in an autosomal recessive manner | pronounce = | field = | symptoms = | complications = | onset = | duration = | types = | causes = | risks = | diagnosis = | differential = | prevention = | treatment = | medication = | prognosis = | frequency = | deaths = }}Distal spinal muscular atrophy type 2 (DSMA2), also known as Jerash type distal hereditary motor neuropathy (HMN-J) — is a very rare childhood-onset genetic disorder characterised by progressive muscle wasting affecting lower and subsequently upper limbs. The disorder has been described in Arab inhabitants of Jerash region in Jordan[1][2] as well as in a Chinese family.[3] The condition is linked to a genetic mutation in the SIGMAR1 gene on chromosome 19 (locus 19p13.3) and is likely inherited in an autosomal recessive manner.[3] See also
References1. ^{{cite journal|last=Christodoulou|first=K |author2=Zamba, E |author3=Tsingis, M |author4=Mubaidin, A |author5=Horani, K |author6=Abu-Sheik, S |author7=El-Khateeb, M |author8=Kyriacou, K |author9=Kyriakides, T |author10=Al-Qudah, AK |author11=Middleton, L|title=A novel form of distal hereditary motor neuronopathy maps to chromosome 9p21.1-p12|journal=Annals of Neurology|date=December 2000|volume=48|issue=6|pages=877–84|pmid=11117544|doi=10.1002/1531-8249(200012)48:6<877::AID-ANA8>3.0.CO;2-#}} 2. ^{{cite web |title=Hereditary Motor Neuropathies (HMN) |url=http://www.rarediseasesnetwork.org/INC/professional/disorders/HMN/ |author=The Inherited Neuropathies Consortium |publisher=}} 3. ^1 {{cite journal|pmid=26078401|year=2015|author1=Li|first1=X|title=A SIGMAR1 splice-site mutation causes distal hereditary motor neuropathy|journal=Neurology|volume=84|issue=24|pages=2430–7|last2=Hu|first2=Z|last3=Liu|first3=L|last4=Xie|first4=Y|last5=Zhan|first5=Y|last6=Zi|first6=X|last7=Wang|first7=J|last8=Wu|first8=L|last9=Xia|first9=K|last10=Tang|first10=B|last11=Zhang|first11=R|doi=10.1212/WNL.0000000000001680}} External links{{Medical resources| DiseasesDB = | ICD10 = G12.2 | ICD9 = | ICDO = | OMIM = 605726 | MedlinePlus = | eMedicineSubj = | eMedicineTopic = | MeshID = | Orphanet = 139552 }}{{Genetic-disorder-stub}}{{Nervoussystem-disease-stub}} 2 : Muscular disorders|Genetic diseases and disorders |
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