Definition:
Dentatorubral Pallidoluysian atrophy DRPLA for brevity or otherwise known as the Haw River Syndrome and Naito Oyanagi Disease, is an autosomal dominant apinocerebellar degeneration that is said to be caused by the expansion of CAG repeat encoding polyglutamine tractin the atrophin-1 protein.
Diagnosis:
Diagnosis is made through examination of the family history, genetic testing and medical and laboratory examinations.
Treatment:
Treatment includes undergoing MRI, EEG and neuropsychological testing. Administration of anti-convulsants are also advised.
Symptoms and Signs:
Symptoms includes occirence of dystonia, corneal endothelial, sleep apnea, autism and those manifestations the same of Huntingtons's Disease.
Causes:
It is said to be caused by the expansion of CAG repeat encoding polyglutamine tractin the atrophin-1 protein.
