The DRPL (Dentatorubral-pallidoluysian atrophy) is done to analyze possible clinical findings and a family history of DRPL. It is also known as Haw River Syndrome and Naito-Oyanagi disease. DRPLA testing is usually performed by PCR amplifying the ATN1 trinucleotide repeat region. One of the...
The DRPL (Dentatorubral-pallidoluysian atrophy) is done to analyze possible clinical findings and a family history of DRPL. It is also known as Haw River Syndrome and Naito-Oyanagi disease. DRPLA testing is usually performed by PCR amplifying the ATN1 trinucleotide repeat region.
One of the reasons to do this test is to review the management options available for dentatorubral-pallidoluysian atrophy and Summarize the role of the interprofessional team in managing patients suffering from DRPLA.
DRPLA is most commonly seen in the Japanese population, with an animated incidence of 2 to 7 per million people.
Dentatorubral-pallidoluysian atrophy (DRPLA) is an autosomal dominant spinocerebellar degeneration caused by an expansion of a CAG repeat encoding a polyglutamine tract in the atrophin-1 protein.
Pati.ts with this disease exhibit - ataxia, choreoathetosis, dementia, and psychiatric disturbance in adults and ataxia, myoclonus, seizures, and progressive intellectual deterioration in children.
A mutation in the ATN1 gene causes DRPL. This gene provides instructions for making a protein called atrophin 1. The function of atrophin 1 plays a vital role in nerve cells in many areas of the brain.
It is a progressive brain disorder that causes involuntary movements, mental and emotional problems, and a decline in thinking ability. The average age by which an individual suffers from this disease is 30 years, but this condition can also appear from infancy to mid-adulthood anytime.
20 mL of Amniotic fluid can be taken.
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DRPL Analysis (Pathology Test)
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