Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy (SMAFK)

Alias:
Autosomal Dominant Late-Onset Spinal Muscular Atrophy, Finkel Type
Adult-Onset Proximal Spinal Muscular Atrophy, Autosomal Dominant
Autosomal Dominant Adult-Onset Proximal Sma
Finkel Disease
Smafk
Autosomal Dominant Adult Proximal Spinal Muscular Atrophy
Finkel Late-Adult Type Sma
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy, also known as autosomal dominant late-onset spinal muscular atrophy, finkel type, is related to autosomal dominant proximal spinal muscular atrophy and spinal muscular atrophy, late-onset, finkel type, and has symptoms including muscular fasciculation An important gene associated with Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy is VAPB (VAMP Associated Protein B And C), and among its related pathways/superpathways are Tacrolimus/Cyclosporine Pathway, Pharmacodynamics and Ethanol metabolism production of ROS by CYP2E1. Related phenotypes are fatigue and areflexia
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Adult
--
8
40
15

Medical Symptom

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Description
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No data available

Gene & Mutation

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No data available

Related Drugs

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No data available

Disease Model

Category
Name
MGI
Related Gene
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Publications
No data available

References Literature

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