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autosomal recessive distal spinal muscular atrophy 2

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

Distal hereditary motor neuropathy, Jerash type is a rare, genetic neuromuscular disease characterized by progressive, symmetrical, moderate to severe, distal muscle weakness and atrophy, without sensory involvement, first affecting the lower limbs (towards the end of the first decade) and then involving (within two years) the upper extremities. Patients typically develop foot drop, pes varus, hammer toes and claw hands. Pyramidal tract signs (e.g. brisk knee reflexes, positive Babinski sign, absent ankle reflexes) are initially associated but regress as disease stabilizes (~10 years after onset).

Synonyms

  • DSMA2
  • HMNJ
  • MNDJ
  • autosomal recessive distal spinal muscular atrophy type 2
  • dHMNJ
  • distal hereditary motor neuropathy Jerash type
  • distal hereditary motor neuropathy, Jerash type
  • hereditary motor neuropathy, Jerash type
  • motor neuropathy, distal, Jerash type
  • neuronopathy, distal hereditary motor, Jerash type
  • neuropathy, distal hereditary motor, Jerash type
  • spinal muscular atrophy Jerash type
  • spinal muscular atrophy, Jerash type
  • spinal muscular atrophy, distal, autosomal recessive, 2
  • spinal muscular atrophy, distal, autosomal recessive, type 2
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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