Associated with mutations in the survival of motor neuron gene (SMN1)
SMA has a continuous spectrum of symptoms that ranges from very severe to mild across the four classifications of SMA types
|Age of onset
|Quick and unexpected onset (“floppy baby syndrome”). Rapid motor neuron death causes respiratory complications that are frequent cause of death. Unless placed on mechanical ventilation, SMA type 1 patients do not live past 2 years.
|Child is never able to stand and walk but are able to maintain a sitting position at some point. Weakness usually observed between 6-18 months. Muscle weakness is progressive and respiratory system is a major concern.
|Juvenile form that usually manifests after 1 year of age. Patients are able to walk without support at some time, by may loss this ability. Respiratory involvement is less noticeable and life expectancy is normal or near normal.
|Second and third decade
|Adult-onset form usually manifests in the third decade of life with gradual weakening of the muscles. Life expectancy is normal.
|LIM kinase and
|Published SMA phenotype
|Decreased muscle function
|Activation of Ubiquitin pathway
|Expression of p62, beclin, LC3
|RFP-GFP-LC3B Autophagy Sensor
|Bioenergetics: Seahorse mito stress test
|Mitochondrial DNA content
|Mitochondrial membrane polarization
|Mitochondrial complex protein expression
|Agrin induced AcH reorganization
|Motor neuron function
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