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Spinal Muscular Atrophy - Coggle Diagram

- - - - Each are based on the severity of the disorder and the age at which symptoms begin
      - Three types of SMA that affect children before the age of 1 year
      - Two types of SMA , type IV and Finkel type
        
        Occur in adulthood, usually after age 30
        
        Symptoms of adult-onset spinal muscular atrophy are usually mild to moderate and include muscle weakness, tremor and twitching
    - - Patients condition tends to deteriorate over time, depending on the severity of the symptoms
- - - - Most severe form of spinal muscular atrophy and begins before birth
      - Usually first symtom is reduced movement of the fetus (first seen 30-36 weeks of pregnancy)
        
        After birth have little.overeat and have difficulties with swallowing and breathing
    - - Called Werdnig-Hoffman disease) another severe form of SMA
      - Symptoms may be present at birth or writhing the first few months of life
      - These infants have difficulty breathing and they are unable to without help
    - - Usually develop muscle weakness between ages 6 and 12 months
      - Cannot stand or walk without help
- - - - Genetic testing for a mutation in the VAPB gene is done to diagnose the FInkel Type SMA
      - EMG Electrimyography (EMG) or muscles biopsy may be needed because it is not impossible to conduct the SMN gene tests or no abnormality is identified
    - - Having extra copies of the SMN2 gene can modify the course of SMA
    - - Mutations in the SMN1 cause types of II,III, IV
        
        Most have three or more copies of SMA
        
        More copies of SMN2 gene a person have the less severe symptoms are
- - - - Being tested on animals
      - Researchers believe it will take many more years before it is used on humans
- - - - Since they carry a normal version of the gene they do not show symptoms