Distal spinal muscular atrophy type 2
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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]
- ↑
- ↑ The Inherited Neuropathies Consortium. "Hereditary Motor Neuropathies (HMN)".
- ↑ 3.0 3.1
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Contributors: Prab R. Tumpati, MD
