Spinal Muscular atrophy causes
| Spinal Muscular atrophy causes | |
| ICD-10 | G12 |
|---|---|
| ICD-9 | 335.0-335.1 |
| OMIM | 253300 253550 253400 271150 |
| DiseasesDB | 14093 Template:DiseasesDB2 Template:DiseasesDB2 |
| MeSH | D009134 |
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The most common form of SMA is caused by mutation of the SMN gene, and manifests over a wide range of severity affecting infants through adults. This spectrum has been divided into three groups, depending on the age of onset, and are as followed:
- Infantile SMA - Type I or Werdnig-Hoffmann disease (generally 0-6 months). SMA type I, also known as severe infantile SMA or Werdnig Hoffmann disease, is the most severe, and manifests in the first year of life. This type generally onsets quickly and unexpectedly after birth; babies diagnosed with Type I SMA do not generally live past one year of age. Pneumonia is considered the ultimate cause of death due to deterioration of survival motor neurons; these neurons trigger improper functioning of the major bodily organ systems, particularly respiratory (e.g. breathing, ridding of pooled secretions inside lungs).
- Intermediate SMA - Type II (generally 7-18 months). Type II SMA, or intermediate SMA, describes those children who are never able to stand and walk, but who are able to maintain a sitting position at least some time in their life. The onset of weakness is usually recognized some time between 6 and 18 months.
- Adult SMA - Type III or Kugelberg-Welander disease (generally >18 months). SMA type 3 describes those who are able to walk at some time.
References
External links
- Template:NINDS
- SMA Support
- Spinal Muscular Atrophy - Fight SMA - An international nonprofit dedicated to finding a treatment or cure for spinal muscular atrophy. Visit Fight SMA's website and also the Spinal Muscular Atrophy Blog for the latest news and research information about the leading genetic killer of children under two.
- Families of Spinal Muscular Atrophy - An international nonprofit dedicated to advancing research and supporting individuals and families with sma. FSMA has a web site with news, information and message boards for individuals to post questions. FSMA is one of the largest US private funders of SMA research and has more than 30 chapters worldwide.FSMA
- SMA Trust - a UK registered charity working to fund medical research into Spinal Muscular Atrophy
- Jennifer Trust for Spinal Muscular Atrophy - A national charity in the UK dedicated both to supporting people affected by SMA, and investing in essential research into causes, treatments and eventually a cure for the condition
Template:Diseases of the nervous system Template:SIB
da:Spinal muskulær atrofi de:Spinale Muskelatrophie el:Νωτιαία μυϊκή ατροφία nl:Spinale Musculaire Atrofieën fi:Spinaaliset lihasatrofiat sv:Spinal muskelatrofi