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Genetic and Rare Diseases Information Center (GARD)

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Spinal muscular atrophy 1

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Other Names for this Disease

  • Muscular atrophy, infantile
  • Proximal spinal muscular atrophy, type 1
  • SMA, infantile acute form
  • SMA1
  • Werdnig Hoffmann disease
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Spinal muscular atrophy 1, also known as Werdnig-Hoffmann disease, is a severe type of spinal muscular atrophy that is evident by the time a child is 6 months old.[1] Infants with this condition have very little muscle tone, weak muscles, and feeding and breathing problems.[2] Mutations in the SMN1 gene cause spinal muscular atrophy type 1. It is inherited in an autosomal recessive manner.[3]
Last updated: 10/21/2009

References

  1. Motor Neuron Diseases Fact Sheet. National Institute of Neurological Disorders and Stroke (NINDS). 2009; http://www.ninds.nih.gov/disorders/motor_neuron_diseases/detail_motor_neuron_diseases.htm. Accessed 10/21/2009.
  2. Kaneshiro NK, Hoch DB. Spinal muscular atrophy. MedlinePlus. 2008; http://www.nlm.nih.gov/medlineplus/ency/article/000996.htm. Accessed 10/21/2009.
  3. Spinal muscular atrophy. Genetics Home Reference (GHR). 2006; http://ghr.nlm.nih.gov/condition=spinalmuscularatrophy. Accessed 10/21/2009.
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1 question(s) from the public on Spinal muscular atrophy 1 have been answered. See questions and answers. You can also submit a new question.

Basic Information

  • Families of SMA has created a booklet entitled Understanding SMA that is intended to serve as a source of information and support for children and adults with Spinal Muscular Atrophy (SMA). 
  • Genetics Home Reference (GHR) contains information on Spinal muscular atrophy 1. This website is maintained by the National Library of Medicine.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • The Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Spinal muscular atrophy 1. Click on the link to view a sample search on this topic.

Insurance Issues

Other Names for this Disease
  • Muscular atrophy, infantile
  • Proximal spinal muscular atrophy, type 1
  • SMA, infantile acute form
  • SMA1
  • Werdnig Hoffmann disease
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.