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Genetic and Rare Diseases Information Center (GARD)

Other Names for this Disease
  • Muscular atrophy, infantile
  • Proximal spinal muscular atrophy, type 1
  • SMA, infantile acute form
  • SMA1
  • Werdnig Hoffmann disease
More Names
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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


  1. Motor Neuron Diseases Fact Sheet. National Institute of Neurological Disorders and Stroke (NINDS). 2009; Accessed 10/21/2009.
  2. Kaneshiro NK, Hoch DB. Spinal muscular atrophy. MedlinePlus. 2008; Accessed 10/21/2009.
  3. Spinal muscular atrophy. Genetics Home Reference (GHR). 2006; Accessed 10/21/2009.
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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. 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 an 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.

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