" /> 3-methylglutaconic aciduria type 5 - CISMeF





Preferred Label : 3-methylglutaconic aciduria type 5;

ICD-11 definition : Dilated cardiomyopathy with ataxia (DCMA) is characterized by severe early onset (before the age of three years) dilated cardiomyopathy (DCM) with conduction defects (long QT syndrome), non-progressive cerebellar ataxia, testicular dysgenesis, and 3-methylglutaconic aciduria.;

ICD-11 synonym : DCMA syndrome; 3-methylglutaconic aciduria with normal 3-methylglutaconic CoA hydratase; DCMA - [Dilated cardiomyopathy with ataxia] syndrome; Dilated cardiomyopathy with ataxia;

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Dilated cardiomyopathy with ataxia (DCMA) is characterized by severe early onset (before the age of three years) dilated cardiomyopathy (DCM) with conduction defects (long QT syndrome), non-progressive cerebellar ataxia, testicular dysgenesis, and 3-methylglutaconic aciduria.

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02/05/2025


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