Spinal Muscular atrophy diagnosis

Spinal Muscular atrophy diagnosis
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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In order to be diagnosed with Spinal muscular atrophy, symptoms need to be present. In most cases a diagnosis can be made by the SMN gene test, which determines whether there is at least one copy of the SMN1 gene by looking for its unique sequences (that distinguish it from the almost identical SMN2) in exons 7 and 8. In some cases, when the SMN gene test is not possible or does not show any abnormality, other tests such as an EMG electromyography (EMG) or muscle biopsy may be indicated.

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

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