Spinal Muscular Atrophy, Distal, Autosomal Recessive

Alternative Names

  • DSMA3
  • Nuronopathy, Distal Hereditary Motor, Type IV
  • HMN4
  • DHMN4
  • Neuropathy, Distal Hereditary Motor, Type IV
  • HMN IV
  • Neuropathy, Distal Hereditary Motor, Type III
  • HMN3
  • DHMN3
  • HMN III
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WHO-ICD-10 version:2010

Diseases of the nervous system

Systemic atrophies primarily affecting the central nervous system

OMIM Number

607088

Mode of Inheritance

Autosomal recessive

Gene Map Locus

11q13,14q32.2

Description

Distal spinal muscular atrophy (DSMA), also known as distal hereditary motor neuronopathy (dHMN or HMN), is characterized by distal muscle weakness and wasting without significant sensory involvement.

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
607088.1.1LebanonFemaleYesNo Progressive distal muscle weakness; Dis... NM_003384.3:c.656G>T, NM_003384.3:c.761G>THeterozygousAutosomal, RecessiveEl-Bazzal et al. 2019
607088.1.2LebanonMaleYesNo Progressive distal muscle weakness; Dis... NM_003384.3:c.656G>T, NM_003384.3:c.761G>THeterozygousAutosomal, RecessiveEl-Bazzal et al. 2019 Sibling of 607088.1....

Other Reports

Lebanon

Viollet et al. (2002) reported a large inbred family afftected with chronic distal spinal muscular atrophy. Five children in this family were affected. Haplotype anaysis on 17 members of this family pointed to a causative locus to chromosome 11q13 between D11S1889 and D11S1321. Although this region included IGHMBP2, no mutations were found in this gene. this promted the authors to suggest that the condition in this family was distinct from SMARD1. Two polymorphisms in the IGHMBP2 gene were identified (subject 600502.1.1). 

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