Dentatorubral-Pallidoluysian AtrophySymptoms, Doctors, Treatments, Advances & More
Learn About Dentatorubral-Pallidoluysian Atrophy
Dentatorubral-pallidoluysian atrophy (DRPLA) is a progressive brain disorder that causes involuntary movements, mental and emotional problems, and a decline in thinking ability. The average age of onset for DRPLA is around 30 years, but this condition can appear any time between infancy and mid-adulthood.
DRPLA is caused by a variant (also called mutation) in the ATN1 gene. This gene provides instructions for making a protein called atrophin 1. Although the exact function of atrophin 1 is unknown, it appears to play an important role in nerve cells (neurons) in many areas of the brain.
DRPLA is most common in the Japanese population, where it is estimated to affect 2 to 7 per million people. However, this condition has also been seen in families around world.
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition.
Swedish Neuroscience Specialists - Movement Disorders
Movement disorders are most effectively treated by adopting a multidisciplinary approach and closely collaborating with the patient, the family and other caregivers. Every member of the clinical team is invaluable in delivering high-quality, high-value care to patients and their families. Dr. Khemani is the Medical Director of the Movement Disorders Program within the Swedish Neuroscience Institute. Dr. Khemani is rated as an Advanced provider by MediFind in the treatment of Dentatorubral-Pallidoluysian Atrophy. He is also highly rated in 23 other conditions, according to our data. His clinical expertise encompasses Movement Disorders, Parkinson's Disease, Essential Tremor, Deep Brain Stimulation, and Orchiectomy. Dr. Khemani is board certified in American Board Of Psychiatry And Neurology. Dr. Khemani is currently accepting new patients.
Samuel Berkovic practices practicing medicine in Heidelberg, Australia. Mr. Berkovic is rated as an Elite expert by MediFind in the treatment of Dentatorubral-Pallidoluysian Atrophy. He is also highly rated in 48 other conditions, according to our data. His clinical expertise encompasses Myoclonic Epilepsy, Epilepsy, Partial Familial Epilepsy, and Epilepsy with Myoclonic-Atonic Seizures.
Reetta Kalviainen practices practicing medicine in Kuopio, Finland. Kalviainen is rated as an Elite expert by MediFind in the treatment of Dentatorubral-Pallidoluysian Atrophy. They are also highly rated in 14 other conditions, according to our data. Their clinical expertise encompasses Unverricht-Lundborg Syndrome, Dentatorubral-Pallidoluysian Atrophy, Lafora Disease, and Myoclonic Epilepsy.
Summary: The Registry and Natural History Study for Progressive Myoclonus Epilepsy Type 1 (EPM1) is focused on gathering longitudinal clinical data as well as biological samples (blood and/or urine) from male and female patients, of all ages, who have a molecular diagnosis of EPM1or CSTB-null-related disease. Currently, there are no therapies that halt disease progression in any CSTB-related diseases, high...
Summary: The objective of the CureDRPLA Global Patient Registry is to establish a longitudinal database of patient-reported data on individuals affected with Dentatorubral-pallidoluysian atrophy (DRPLA) from anywhere in the world. The CureDRPLA Global Patient Registry will address patient needs by: * Expanding patient engagement by documenting quality of life outcomes. * Providing anonymized data to the DR...
Published Date: December 05, 2023
Published By: National Institutes of Health