Distal spinal muscular atrophy type 2

From WikiMD's Wellness Encyclopedia

About WikiMD: The article, Distal spinal muscular atrophy type 2, is part of WikiMD.
WikiMD is a free medical encyclopedia and wellnesspedia moderated by medical professionals.


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]

  1. ↑
  2. ↑ The Inherited Neuropathies Consortium. "Hereditary Motor Neuropathies (HMN)".
  3. ↑ 3.0 3.1

External links[edit | edit source]

Classification
External resources


Stub icon

This genetic disorder article is a stub. You can help WikiMD by expanding it.

Stub icon

This article about a medical condition affecting the nervous system is a stub. You can help WikiMD by expanding it.

WikiMD
Navigation: Wellness - Encyclopedia - Health topics - Disease Index‏‎ - Drugs - World Directory - Gray's Anatomy - Keto diet - Recipes

Search WikiMD

Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro / Zepbound) available.
Advertise on WikiMD

WikiMD's Wellness Encyclopedia

Let Food Be Thy Medicine
Medicine Thy Food - Hippocrates

WikiMD is not a substitute for professional medical advice. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.

Retrieved from "https://wikimd.com/w/index.php?title=Distal_spinal_muscular_atrophy_type_2&oldid=5221226"

Contributors: Prab R. Tumpati, MD