Spinal Muscular Atrophy, Late-Onset, Finkel Type (SMAFK)

Alias:
Spinal Muscular Atrophy, Proximal, Adult, Autosomal Dominant
Finkel Late-Adult Type Sma
Adult-Onset Proximal Spinal Muscular Atrophy, Autosomal Dominant
Atrophy, Muscular, Spinal, Proximal, Adult, Autosomal Dominant
Smapad
Smafk
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Spinal Muscular Atrophy, Late-Onset, Finkel Type, also known as spinal muscular atrophy, proximal, adult, autosomal dominant, is related to autosomal dominant adult-onset proximal spinal muscular atrophy, and has symptoms including muscular fasciculation An important gene associated with Spinal Muscular Atrophy, Late-Onset, Finkel Type is VAPB (VAMP Associated Protein B And C). Affiliated tissues include spinal cord, and related phenotypes are fasciculations and hyporeflexia
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
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1
9
24

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Related Drugs

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No data available

Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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