Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1

Alternative Names

  • DSMA1
  • Spinal Muscular Atrophy with Respiratory Distress 1
  • SMARD1
  • Neuronopathy, Distal Hereditary Motor, Type VI
  • DHMN6
  • HMN6
  • HMN VI
  • Severe Infantile Axonal Neuropathy with Respiratory Failure
  • SIANRF
  • Neuronopathy, Severe Infantile Axonal, with Repiratory Failure
  • Spinal Muscular Atrophy, Diaphragmatic
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WHO-ICD-10 version:2010

Diseases of the nervous system

Systemic atrophies primarily affecting the central nervous system

OMIM Number

604320

Mode of Inheritance

Autosomal recessive

Gene Map Locus

2p11.2,11q13.3

Description

Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 is a rare neuromuscular disorder characterized by weakness of the distal muscles, respiratory distress due to diaphragmatic paralysis and dysfunction of the peripheral nerves and the autonomic nervous system.

The disease can often be misdiagnosed as Spinal Muscular Atrophy (SMA), a disorder that affects proximal muscles as opposed to the distal muscle involvement seen in SMARD1.  Management of the disorder includes physical and occupational therapy to maintain muscle strength, immunizations and antibiotics to prevent respiratory infections and the use of ventilators for respiratory support.

SMARD1 is an autosomal recessive disorder caused by mutations in the IGHMBP2 gene.  The gene encodes a DNA/RNA helicase involved in transcription regulation. Defects in the gene affect alpha motor neurons and result in their death over time.  So far more than sixty mutations have been found to be associated with the disease.  These include missense, nonsense, frameshift and splice site mutations, either in the homozygous or compound heterozygous form and usually result in the loss of function of the IGHMBP2 protein.

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
604320.1LebanonFemaleYesYes Respiratory distress; Diaphragmatic eve...NM_002180.2:c.638A>GHomozygousAutosomal, RecessiveGrohmann et al. 2003; Grohmann et al. 1999 Four siblings died o...
604320.2LebanonMaleYesYes Intrauterine growth retardation; Equino...NM_002180.2:c.707T>GHomozygousAutosomal, RecessiveWilmshurst et al. 2001; Grohmann et al. 2003
604320.3Saudi ArabiaFemaleNoYes Dyspnea; Dysphagia; Muscle weakness; ...NM_002180.2:c.958C>THomozygousAutosomal, RecessiveAlSaman and Tomoum, 2010 No parental testing ...
604320.4.1LebanonMaleNoYes Equinovarus deformity; Progressive dist...NM_001164730.2:c.324+1_324+7delinsACHomozygousAutosomal, RecessiveSchottmann et al. 2015
604320.GLebanonUnknownYesNM_002180.3:c.1540G>AHomozygousAutosomal, RecessiveMegarbane et al. 2022 6 patients from 3 fa...
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