FB2026_02 , released June 18, 2026
Human Disease Model Report: spinal muscular atrophy, type IV
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General Information
Name
spinal muscular atrophy, type IV
FlyBase ID
FBhh0000357
Disease Ontology Term
Parent Disease
OMIM
SPINAL MUSCULAR ATROPHY, TYPE IV; SMA4
Overview

One of several spinal muscular atrophies associated with defects in the human gene SMN1 and/or SMN2. See human disease model report for spinal muscular atrophy, SMN-related (FBhh0000352).

Disease Summary Information
Parent Disease Summary: spinal muscular atrophy
Symptoms and phenotype

Spinal muscular atrophy (SMA) is characterized by progressive muscle weakness resulting from degeneration and loss of the anterior horn cells (i.e., lower motor neurons) in the spinal cord and the brain stem nuclei. Onset ranges from before birth to adolescence or young adulthood. Poor weight gain, sleep difficulties, pneumonia, scoliosis, and joint contractures are common complications. [From GeneReviews, Spinal Muscular Atrophy, pubmed:20301526 2016.07.11]

(FlyBase Curators, 2013-)
Specific Disease Summary: spinal muscular atrophy, type IV
OMIM report

[SPINAL MUSCULAR ATROPHY, TYPE IV; SMA4](https://omim.org/entry/271150)

Human gene(s) implicated

[SURVIVAL OF MOTOR NEURON 1; SMN1](https://omim.org/entry/600354)

Symptoms and phenotype
Genetics
Cellular phenotype and pathology
Molecular information
External links
Disease synonyms
adult spinal muscular atrophy
SMA4
SMA IV
spinal muscular atrophy-4
spinal muscular atrophy, adult form
spinal muscular atrophy, proximal, adult, autosomal recessive
spinal muscular atrophy, type IV, SMA4
Ortholog Information
Human gene(s) in FlyBase
    Other mammalian ortholog(s) used
      D. melanogaster Gene Information (0)
      Other Genes Used: Viral, Bacterial, Synthetic (0)
        Summary of Physical Interactions (0 groups)
        Alleles Reported to Model Human Disease (Disease Ontology) (0 alleles)
        Alleles Representing Disease-Implicated Variants
        Genetic Tools, Stocks and Reagents
        Sources of Stocks
        Contact lab of origin for a reagent not available from a public stock center.
        Bloomington Stock Center Disease Page
        Related mammalian, viral, bacterial, or synthetic transgenes
        Allele
        Transgene
        Publicly Available Stocks
        Selected Drosophila transgenes
        Allele
        Transgene
        Publicly Available Stocks
        RNAi constructs available
        Allele
        Transgene
        Publicly Available Stocks
        Selected Drosophila classical alleles
        Allele
        Allele class
        Mutagen
        Publicly Available Stocks
        References (2)