congenital fiber-type disproportion myopathy
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.
MONDO:0016193
neuromuscular disease caused by qualitative or quantitative defects of alpha-actin
excluded_subClassOf
MONDO:0016197
neuromuscular disease caused by qualitative or quantitative defects of selenoprotein N1
excluded_subClassOf
MONDO:0017303
neuromuscular disease caused by qualitative or quantitative defects of tropomyosin
excluded_subClassOf
MONDO:0100084
alpha-actinopathy
excluded_subClassOf
MONDO:0100108
TPM3-related myopathy
excluded_subClassOf
MONDO:0100150
RYR1-related myopathy
excluded_subClassOf
MONDO:0100196
TPM2-related myopathy
excluded_subClassOf
MONDO:0002921
congenital structural myopathy
is_a
CFTDM
exact
congenital fiber type disproportion
related
congenital fiber-type disproportion
exact
congenital fibre type disproportion
related
congenital myopathy with fiber type disproportion
exact
congenital myopathy with fibre type disproportion
exact
myopathy, congenital with fiber-type disproportion
related