Scapuloperoneal Spinal Muscular Atrophy

About the Disease
Scapuloperoneal Spinal Muscular Atrophy, also known as spsma, is related to hereditary motor and sensory neuropathy, type iic and charcot-marie-tooth hereditary neuropathy, and has symptoms including torticollis and facial paresis. An important gene associated with Scapuloperoneal Spinal Muscular Atrophy is TRPV4 (Transient Receptor Potential Cation Channel Subfamily V Member 4), and among its related pathways/superpathways are Transport of inorganic cations/anions and amino acids/oligopeptides and CREB Pathway. The drugs Risdiplam and Lactitol have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, spinal cord and bone, and related phenotypes are distal sensory impairment and scoliosis

Common Targets
TRPV4 | ACTA1

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