Spinal muscular atrophy symptom

Editors-in-Chief: C. Michael Gibson, M.S., M.D.; Priyamvada Singh, MBBS

Infantile SMA is the most severe form. Some of the symptoms include:

muscle weakness
poor muscle tone
weak cry
limpness or a tendency to flop
difficulty sucking or swallowing
accumulation of secretions in the lungs or throat
legs that tend to be weaker than the arms
hypotonia, areflexia, and multiple congenital contractures (arthrogryposis) associated with loss of anterior horn cells
feeding difficulties
increased susceptibility to respiratory tract infections
developmental milestones, such as lifting the head or sitting up, can’t be reached.

In general, the earlier the symptoms appear, the shorter the life span. The onset is sudden and dramatic. Once symptoms appear the motor neuron cells quickly deteriorate shortly after. The disease can be fatal and there is no cure for SMA yet known. The major management issue in Type 1 SMA is the prevention and early treatment of respiratory infections; pneumonia is the cause of death in the majority of the cases. Infants with Type 1 SMA have a life expectancy of less than two years, however, some grow to be adults. Intellectual and later, sexual functions, are unaffected by SMA.

References

External links

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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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da:Spinal muskulær atrofi de:Spinale Muskelatrophie el:Νωτιαία μυϊκή ατροφία nl:Spinale Musculaire Atrofieën fi:Spinaaliset lihasatrofiat sv:Spinal muskelatrofi

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