Spinal muscular atrophy 1
Other Names for this Disease
- Muscular atrophy, infantile
- Proximal spinal muscular atrophy, type 1
- SMA, infantile acute form
- Werdnig Hoffmann disease
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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. Feeding and breathing problems are also present. SMA1 is caused by changes (mutations) in the SMN1 gene and is typically inherited in an autosomal recessive manner. 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.Spinal muscular atrophy 1 (SMA1), also known as Werdnig Hoffmann disease, is a severe type of
Last updated: 1/21/2015
- 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.
- Kaneshiro NK, Hoch DB. Spinal muscular atrophy. MedlinePlus. 2008; http://www.nlm.nih.gov/medlineplus/ency/article/000996.htm. Accessed 10/21/2009.
- Spinal muscular atrophy. Genetics Home Reference (GHR). January 2013; http://ghr.nlm.nih.gov/condition=spinalmuscularatrophy. Accessed 4/6/2015.
- 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.
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- 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.
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- 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.