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X-linked distal spinal muscular atrophy type 3

The information provided on this page is for informational purposes only. The National Organization for Rare Disorders (NORD) does not endorse the information presented. The content has been gathered in partnership with the MONDO Disease Ontology. Please consult with a healthcare professional for medical advice and treatment.

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Disease Overview

X-linked distal spinal muscular atrophy type 3 is a rare distal hereditary motor neuropathy characterized by slowly progressive atrophy and weakness of distal muscles of hands and feet with normal deep tendon reflexes or absent ankle reflexes and minimal or no sensory loss, sometimes mild proximal weakness in the legs and feet and hand deformities in males.

Synonyms

  • ATP7A spinal muscular atrophy
  • ATP7A-related distal motor neuropathy
  • DSMAX
  • Dsmax
  • SMAX3
  • X-linked dHMN type 3
  • X-linked dHMN3
  • X-linked dSMA type 3
  • X-linked dSMA3
  • X-linked distal hereditary motor neuropathy type 3
  • spinal muscular atrophy caused by mutation in ATP7A
  • spinal muscular atrophy, distal, X-linked 3
  • spinal muscular atrophy, distal, X-linked 3, X-linked recessive
  • spinal muscular atrophy, distal, X-linked recessive
  • spinal muscular atrophy, distal, X-linked type 3
GARD Disease Summary

The Genetic and Rare Diseases Information Center (GARD) has information and resources for patients, caregivers, and families that may be helpful before and after diagnosis of this condition. GARD is a program of the National Center for Advancing Translational Sciences (NCATS), part of the National Institutes of Health (NIH).

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Orphanet

Orphanet has a summary about this condition that may include information on the diagnosis, care, and treatment as well as other resources. Some of the information and resources are available in languages other than English. The summary may include medical terms, so we encourage you to share and discuss this information with your doctor. Orphanet is the French National Institute for Health and Medical Research and the Health Programme of the European Union.

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OMIM

Online Mendelian Inheritance In Man (OMIM) has a summary of published research about this condition and includes references from the medical literature. The summary contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine.

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