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Spinal Muscular Atrophy

SMN1  -/-

 Phenotype

  • Hypotonia

  • Early Latency in Swim Tunnel

  • Reduced Distance Travelled

  • Reduced Time in Motion

  • Decreased food Gaze

  • Heightened Temperature aversion for Pain 

  • High Resting Ventilation frequency

  • Surface Swimming Behaviour

  • Scoliosis

Histology

  • Loss of anterior horn a-motoneurons

  • Atrophy of the distal striated muscles and the trunk

  • Atrophic muscle fiber types

  • Hypertrophic Muscle Fibers

  • Complete loss of muscle innervation

  • Smaller Myofibers

Spinal Muscular Atrophy Research Model

Biomarkers

  • SMN

  • Nfl

  • Creatinine

  • Calreticulin

  • pNfH

  • Glial fibrillary acidic protein

  • Chitotriosidase-1

  • Creatine kinase

  • Dipeptidyl peptidase IV

  • Electrical impedance myography 

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