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.

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]

Distal spinal muscular atrophy type 2
Other names	Autosomal recessive distal spinal muscular atrophy type 2
This condition is inherited in an autosomal recessive manner
Specialty	Neurology

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

• Spinal muscular atrophies
• Distal hereditary motor neuropathies