Английская Википедия:Distal spinal muscular atrophy type 2

Материал из Онлайн справочника
Перейти к навигацииПерейти к поиску

Шаблон:About Шаблон:Infobox medical condition (new) Distal spinal muscular atrophy type 2 (DSMA2), also known as Jerash type distal hereditary motor neuropathy (HMNJ), 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

References

Шаблон:Reflist

External links

Шаблон:Medical resources


Шаблон:Genetic-disorder-stub Шаблон:Nervoussystem-disease-stub