FB2026_02 , released June 18, 2026
FB2026_02 , released June 18, 2026
Human Disease Model Report: spinal muscular atrophy
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General Information
Name
spinal muscular atrophy
FlyBase ID
FBhh0000342
Disease Ontology Term
Parent Disease
OMIM
Overview

This report describes general characteristics of the group of diseases classified as spinal muscular atrophy (SMA). Spinal muscular atrophy a genetically heterogeneous disorder, with multiple genes and mapped loci. A listing of SMA subtypes may be found in the table below, with links to more detailed reports for subtypes that have been investigated using fly models.

[updated July 2016 by FlyBase; FBrf0222196]

Disease Summary Information
Parent Disease Summary: spinal muscular atrophy
OMIM report
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-)
Genetics
Cellular phenotype and pathology
Molecular information
External links
Disease synonyms
congenital distal spinal muscular atrophy
distal spinal muscular atrophy
SMA
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 (7)