Childhood Spinal Muscular Atrophy

Alias:
Survival Motor Neuron Spinal Muscular Atrophy
Spinal Muscular Atrophies of Childhood
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Childhood Spinal Muscular Atrophy, also known as survival motor neuron spinal muscular atrophy, is related to spinal muscular atrophy type 0 and spinal muscular atrophy, type ii. An important gene associated with Childhood Spinal Muscular Atrophy is SMN1 (Survival Of Motor Neuron 1, Telomeric), and among its related pathways/superpathways are Processing of Capped Intron-Containing Pre-mRNA and SARS-CoV-2 Infection. The drugs Risdiplam and Immunoglobulins have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, and related phenotype is mortality/aging.
Related ID:
MESH:D014897

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
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22
155
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Medical Symptom

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Description
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Gene & Mutation

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Related Drugs

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Disease Model

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MGI
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References Literature

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