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Spinal muscular atrophy 1
Other Names for this Disease
- Muscular atrophy, infantile
- Proximal spinal muscular atrophy, type 1
- SMA, infantile acute form
- SMA1
- Werdnig Hoffmann disease
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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]
References
- Motor Neuron Diseases Fact Sheet. National Institute of Neurological Disorders and Stroke (NINDS). http://www.ninds.nih.gov/disorders/motor_neuron_diseases/detail_motor_neuron_diseases.htm. Accessed October 21, 2009.
- Kaneshiro NK, Hoch DB. Spinal muscular atrophy. MedlinePlus. http://www.nlm.nih.gov/medlineplus/ency/article/000996.htm. Accessed October 21, 2009.
- Spinal muscular atrophy. Genetics Home Reference (GHR). http://ghr.nlm.nih.gov/condition=spinalmuscularatrophy. Accessed October 21, 2009.
Your Questions Answered
by the Genetic and Rare Diseases Information Center1 question(s) from the public on Spinal muscular atrophy 1 have been answered. See questions and answers. You can also submit a new question.
On this page
General 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. Click on the link to go to GHR and review the information.
- MedlinePlus, a Web site designed by the National Library of Medicine to help you research your health questions, provides more information about this topic. Click on the link to view this 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 National Center for Biotechnology Information (NCBI) was established in 1988 as a national resource for molecular biology information. Click on the link to view information on 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.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- 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.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Spinal muscular atrophy 1. Click on the link to go to OMIM and review these resources.
Insurance Issues
- The Social Security Administration has included this condition in their Compassionate Allowances Initiative. This initiative speeds up the processing of disability claims for applicants with certain medical conditions that cause severe disability. More information about Compassionate Allowances and applying for Social Security disability is available online.