FB2024_04 , released June 25, 2024
Human Disease Model Report: Duchenne muscular dystrophy
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General Information
Name
Duchenne muscular dystrophy
FlyBase ID
FBhh0000210
Disease Ontology Term
Parent Disease
OMIM
MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD
Overview

In humans, multiple genes have been implicated in muscular dystrophy; in addition, in most cases, any specific gene is implicated in multiple forms of the disease. This report describes muscular dystrophy, Duchenne type, which is one of several forms of the disease associated with the human gene dystrophin (DMD). Information about fly models for this and related diseases can be found in the report "muscular dystrophy, dystrophin-related' (FBhh0000191).

[updated Mar. 2016 by FlyBase; FBrf0222196]

Disease Summary Information
Disease Summary: Duchenne muscular dystrophy
OMIM report

[MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD](https://omim.org/entry/310200)

Human gene(s) implicated

[DYSTROPHIN; DMD](https://omim.org/entry/300377)

Symptoms and phenotype

Both the Duchenne and Becker forms of muscular dystrophy are associated with cardiomyopathy, which typically begins in adolescence. Signs and symptoms of dilated cardiomyopathy can include an irregular heartbeat (arrhythmia), shortness of breath, extreme tiredness (fatigue), and swelling of the legs and feet. These heart problems worsen rapidly and become life-threatening in many cases. [from Genetics Home Reference, Duchenne and Becker muscular dystrophy; 2016.03.11]

(FlyBase Curators, 2013-)

Muscular dystrophy, Duchenne type, is a severe form of the disease. It is initally characterized by a progressive proximal muscle wasting and weakness, with characteristic pseudohypertrophy of the calves. The bulbar muscles [of the mouth and throat] are spared, but the myocardium is affected. The onset of Duchenne muscular dystrophy usually occurs before age 3 years; typically the victim is chair-ridden by age 12 and dead by age 20. [from MIM:310200; 2016.03.11]

(OMIM, 2013-)
Genetics

Duchenne muscular dystrophy (DMD) is caused by mutation in the gene encoding dystrophin (DMD); it shows an X-linked recessive pattern of inheritance. [from MIM:310200; 2016.03.11]

(OMIM, 2013-)
Cellular phenotype and pathology

Severe elevation of creatine kinase levels in the blood, myopathic changes by electromyography, and myofiber degeneration with fibrosis and fatty infiltration on muscle biopsy are observed. [from MIM:310200; 2016.03.11]

(OMIM, 2013-)
Molecular information
External links
Disease synonyms
DMD
Duchenne muscular dystrophy
muscular dystrophy, Duchenne type
Ortholog Information
Human gene(s) in FlyBase
    Human gene (HGNC)
    Symbol / Name
    DMD; dystrophin
    D. melanogaster ortholog (based on DIOPT)
    Dmel\Dys
    (DIOPT, 2013-)
    Comments on ortholog(s)

    Many to one: 3 human to 1 Drosophila; there are two lower-scoring orthologs in human, UTRN and DRP2.

    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
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        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
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        Publicly Available Stocks
        References (5)