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Disease association ontology term - MONDO:0020121 - muscular dystrophy

Term summary

ID
MONDO:0020121
Name
muscular dystrophy
Ontology or CV name
Disease association
Definition
Muscular dystrophy (MD) refers to a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Some forms of MD are seen in newborns, infants or children, while others have late-onset and may not appear until middle age or later. The disorders differ in terms of the distribution and extent of muscle weakness (some forms of MD also affect cardiac muscle), age of onset, rate of progression, and pattern of inheritance. The prognosis for people with MD varies according to the type and progression of the disorder. There is no specific treatment to stop or reverse any form of MD. Treatment is supportive and may include physical therapy, respiratory therapy, speech therapy, orthopedic appliances used for support, corrective orthopedic surgery, and medicationsincluding corticosteroids, anticonvulsants (seizure medications), immunosuppressants, and antibiotics. Some individuals may need assisted ventilation to treat respiratory muscle weaknessor a pacemaker for cardiac (heart)abnormalities.

Parents

Annotation

Disease association

MONDO:0020121 - muscular dystrophy

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MONDO:0021018 - autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)

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MONDO:0012034 - autosomal dominant limb-girdle muscular dystrophy type 1F

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MONDO:0012248 - autosomal recessive limb-girdle muscular dystrophy type 2K

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MONDO:0013162 - autosomal recessive limb-girdle muscular dystrophy type 2N

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MONDO:0014142 - autosomal recessive limb-girdle muscular dystrophy type 2T

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MONDO:0014023 - congenital muscular dystrophy with intellectual disability and severe epilepsy

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MONDO:0014896 - congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome

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MONDO:0008409 - congenital myopathy 7A, myosin storage, autosomal dominant

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MONDO:0013049 - DPM3-congenital disorder of glycosylation

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MONDO:0010912 - fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement

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MONDO:0011246 - megaconial type congenital muscular dystrophy

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MONDO:0009682 - muscular dystrophy, congenital, with rapid progression

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MONDO:0957270 - muscular dystrophy, limb-girdle, autosomal recessive 28

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MONDO:0009364 - muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1

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MONDO:0014140 - muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14

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MONDO:0013154 - muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2

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MONDO:0033556 - muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15

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MONDO:0013159 - muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1

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MONDO:0014141 - muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14

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MONDO:0013160 - muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2

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MONDO:0000171 - muscular dystrophy-dystroglycanopathy, type A

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MONDO:0008050 - MYH7-related skeletal myopathy

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MONDO:0012130 - myofibrillar myopathy 2

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MONDO:0014877 - myopathy, distal, 5

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MONDO:0011266 - myotonic dystrophy type 2

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MONDO:0958176 - oculopharyngeal muscular dystrophy 1

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MONDO:0014800 - progressive scapulohumeroperoneal distal myopathy

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MONDO:0010684 - X-linked myopathy with excessive autophagy

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