Paula and Bobby
Parents of Lillie
3-Methylglutaconic Aciduria - Type Dcma
What is 3-Methylglutaconic Aciduria - Type Dcma?
3-Methylglutaconic Aciduria - Type Dcma is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.
Eighteen patients from the north American Dariusleut Hutterite population were reported by Davey et al., (2006) with a syndrome resembling both Costeff and Barth syndromes (see above), but different. They differed from the the Barth patients by the presence of a cerebellar ataxia and the absence of muscle involvement and from Costeff syndrome by the fact that optic atrophy was only found in a few. Onset was before the age of 3 years with along QT syndrome and a dilated cardiomyopathy. Many died of cardiac failure or from the conduction defect. All patients over the age of 2 years had a cerebellar ataxia. Most were mildly developmentally delayed and the males often had cryptorchidism or severe hypospdias and had small testes. Many had significant increased excretion of 3MGC. The condition was mapped to 3q26 and mutations were found in the DNAJC19 geneRead More
* This information is courtesy of the L M D.
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What gene changes cause 3-Methylglutaconic Aciduria - Type Dcma?
The syndrome is inherited in the following inheritance pattern/s:
Autosomal Recessive - Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms but have a 25% chance of passing the copies of the gene mutations onto each of their children.
In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation that occurs during the reproductive process.
The syndrome can be caused by mutations in the following gene/s location/s:
What are the main symptoms of 3-Methylglutaconic Aciduria - Type Dcma?
The typical symptoms of the syndrome are:
How does someone get tested for 3-Methylglutaconic Aciduria - Type Dcma?
The initial testing for 3-Methylglutaconic Aciduria - Type Dcma can begin with facial genetic analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the type of genetic testing needed. A consultation with a genetic counselor and then a geneticist will follow.
Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.
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