Spinal Muscular Atrophy, Type Iv (SMA4)

Alias:
Sma4
Spinal Muscular Atrophy, Adult Form
Spinal Muscular Atrophy 4
Adult Spinal Muscular Atrophy
Spinal Muscular Atrophy-4
Spinal Muscular Atrophy, Proximal, Adult, Autosomal Recessive
Spinal Muscular Atrophy Proximal Adult Autosomal Recessive
Proximal Spinal Muscular Atrophy Type 4
Spinal Muscular Atrophy Adult Form
Atrophy, Muscular, Spinal, Type Iv
Spinal Muscular Atrophy Type Iv
Myelopathic Muscular Atrophy
Sma Type Iv
Sma Type 4
Sma-Iv
Sma Iv
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Spinal Muscular Atrophy, Type Iv, also known as sma4, is related to spinal muscular atrophy and motor neuron disease, and has symptoms including tremor of hands An important gene associated with Spinal Muscular Atrophy, Type Iv is SMN1 (Survival Of Motor Neuron 1, Telomeric), and among its related pathways/superpathways is Autophagy pathway. Affiliated tissues include spinal cord and brain, and related phenotypes are rimmed vacuoles and type 1 muscle fiber predominance
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Adult
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21
91
15

Medical Symptom

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

Gene & Mutation

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Mutations
No data available

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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IF
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