Distal spinal muscular atrophy type 2
This article is about a genetic disorder linked to a defect in the SIGMAR1 gene. For other conditions with similar name, see Spinal muscular atrophies.
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| Synonyms | Autosomal recessive distal spinal muscular atrophy type 2 |
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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[edit | edit source]
References[edit | edit source]
- ↑ Christodoulou, K, A novel form of distal hereditary motor neuronopathy maps to chromosome 9p21.1-p12, Annals of Neurology, Vol. 48(Issue: 6), pp. 877–84, DOI: <877::AID-ANA8>3.0.CO;2-# 10.1002/1531-8249(200012)48:6<877::AID-ANA8>3.0.CO;2-#, PMID: 11117544,
- ↑ Hereditary Motor Neuropathies (HMN) Full text, The Inherited Neuropathies Consortium, ,
- ↑ 3.0 3.1 , A SIGMAR1 splice-site mutation causes distal hereditary motor neuropathy, Neurology, 2015, Vol. 84(Issue: 24), pp. 2430–7, DOI: 10.1212/WNL.0000000000001680, PMID: 26078401,
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