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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
  • Infantile spinal muscular atrophy
  • Muscular atrophy, infantile
  • Proximal spinal muscular atrophy type 1
  • Proximal spinal muscular atrophy, type 1
  • SMA, infantile acute form
Related Diseases
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Overview

Spinal muscular atrophy 1 (SMA1), also known as Werdnig Hoffmann disease, is a severe type of spinal muscular atrophy. Symptoms of SMA1 become apparent before 6 months of age and include worsening muscle weakness and poor muscle tone (hypotonia) due to loss of the lower motor neurons in the spinal cord and brain stem.[1] Feeding and breathing problems are also present.[2] SMA1 is caused by changes (mutations) in the SMN1 gene and is typically inherited in an autosomal recessive manner.[3] Around 2% of cases are not inherited and are due to new mutations in the affected person. Treatment is symptomatic and aims to improve quality of life.[1]
Last updated: 1/21/2015

References

  1. Haluk Topaloglu. Proximal spinal muscular atrophy type 1. Orphanet. July, 2009; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83330.
  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). January 2013; http://ghr.nlm.nih.gov/condition=spinalmuscularatrophy. Accessed 4/6/2015.
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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. You may need to register to view the medical textbook, but registration is free.
  • 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.
Other Names for this Disease
  • Infantile spinal muscular atrophy
  • Muscular atrophy, infantile
  • Proximal spinal muscular atrophy type 1
  • Proximal spinal muscular atrophy, type 1
  • SMA, infantile acute form
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.