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Congenital fiber-type disproportion myopathy

MONDO:0009711

A rare genetic disorder caused by mutations in the TPM3, ACTA1, RYR1 or SEPN1 genes. It is inherited in an autosomal dominant or recessive pattern and rarely in an X-linked pattern. It manifests with myopathy throughout the body, particularly in the muscles of the shoulders, upper arms, hips, and thighs. Affected individuals may have contractures, lordosis, or scoliosis. In a minority of cases mild to severe breathing problems may occur.

Also known as: CFTDM, congenital fiber-type disproportion, congenital myopathy with fiber type disproportion, congenital myopathy with fibre type disproportion, congenital fiber type disproportion, congenital fibre type disproportion, myopathy, congenital with fiber-type disproportion

38 clinical trials for this condition and its sub-types.

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Sub-types

Myopathy, congenital, with fiber-type disproportion, X-linked (0)

Broader categories

Disease (618) Musculoskeletal system disorder (196) Hereditary disease (172) Muscle tissue disorder (53) Human disease (14) Myopathy (11) Congenital myopathy (8) Skeletal muscle disorder (8) Congenital structural myopathy (5) Disease of genetic or genomic mechanism (2)
Trials to join now! 19 Not yet recruiting 7 Not yet finished but already full! 4 Completed 7 Terminated 1
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