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Spinal Muscular Atrophy (What is Spinal Muscular Atrophy (It is the second…
Spinal Muscular Atrophy
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Treatment
The current treatment for SMA involves prevention and management of the secondary effect of muscle weakness and loss.
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How is it diagnosed
Genetic testing on a blood or tissue sample is done to identify whether there is at least one copy of the SMN1 gene by looking for its special makeup.
To make a diagnosis of SMA, symptoms need to be present. When symptoms are present, diagnosis can be made by genetic testing.
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Symptoms
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Children with type II SMA usually develop muscle weakness between ages 6 and 12 months. They cannot stand or walk without help.
Type 0 is the most severe form of spinal muscular atrophy and begins before birth. Usually, the first symptom of type 0 is reduced movement of the fetus that is first seen between 30 and 36 weeks of the pregnancy.
Individuals with type III SMA are able to stand and walk without help. They usually lose their ability to stand and walk later in life.