Spinal muscular atrophy: Difference between revisions

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List of terms related to Spinal muscular atrophy

	Spinal muscular atrophy;
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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Revision as of 17:51, 19 June 2011

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

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Overview

Symptom

Diagnosis

Causes

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Other forms

Treatment

Research

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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

Template:WikiDoc Sources

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 ===[[Spinal Muscular atrophy research|Research]]===
-In 1978 Pearn published a series of papers on SMA. He reported that childhood onset SMA is not an uncommon disease and has an incidence in the Northern UK in range of 4 per 100,000 births. At that time the association between the severe infantile form of SMA and the milder forms was not understood. With the advantage of knowledge about the causative gene, it is now known that SMA1, SMA2 and SMA3 are all caused by mutations in the same gene. The overall incidence of SMA, of all types, is in the range of 1 per 6,000 individual. It affects individuals of all races, unlike other well known autosomal recessive disorders like sickle cell disease, and cystic fibrosis, that have significant differences in occurrence rate between races. Overall, SMA1 is the most common genetic cause of death in infants.
-The autosomal recessive versions of SMA are caused by inheritance of a mutated gene from each parent, who would not know that they have the abnormal gene because having only one mutated copy produces no symptoms. Once a child is affected, each subsequent baby has a 25% chance of having the illness. If a sibling does not inherit the disorder, he or she has a 2/3 chance of being a carrier.
-On the other hand, X-linked infantile SMA is passed from mothers only to sons.  Sons have a 50% chance of inheriting the defective gene from a mother who is a carrier and suffering the disease, while daughters have a 50% chance of becoming carriers without symptoms themselves.  Couples may want to have genetic counseling before deciding to have more children. Counseling is available to these families through the community.
-In 1990 mapping of the gene for SMA to [[chromosome 5 (human)|chromosome 5]]q11.2-13.3 was reported and culminated in a 3 year research funded in part by the [[Muscular Dystrophy Association]]. The findings were also confirmed by French researchers. The identification of the gene for autosomal recessive SMA on chromosome 5q has allowed for prenatal diagnosis. Families who are at risk, or who have had a child with the diagnosis can have an [[amniocentesis]] done during pregnancy for DNA testing.
 ==References==

Spinal muscular atrophy
ICD-10	G12
ICD-9	335.0-335.1
OMIM	253300 253550 253400 271150
DiseasesDB	14093 Template:DiseasesDB2 Template:DiseasesDB2
MeSH	D009134

Spinal muscular atrophy: Difference between revisions

Revision as of 17:51, 19 June 2011

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