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Learn About Dentatorubral-Pallidoluysian Atrophy

What is the definition of 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.

What are the causes of Dentatorubral-Pallidoluysian Atrophy?

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.

How prevalent is Dentatorubral-Pallidoluysian Atrophy?

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.

Is Dentatorubral-Pallidoluysian Atrophy an inherited disorder?

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.

Who are the top Dentatorubral-Pallidoluysian Atrophy Local Doctors?
Experienced in Dentatorubral-Pallidoluysian Atrophy
Internal Medicine
Experienced in Dentatorubral-Pallidoluysian Atrophy
Internal Medicine

Buchanan Health Center Inc

1532 Slate Creek Rd, Suite 101, 
Grundy, VA 
 (61.9 mi)
Languages Spoken:
English
Accepting New Patients

William Powers is an Internal Medicine provider in Grundy, Virginia. Dr. Powers and is rated as an Experienced provider by MediFind in the treatment of Dentatorubral-Pallidoluysian Atrophy. His top areas of expertise are Mycoplasma Pneumonia, Gitelman Syndrome, Urinary Tract Infection (UTI), and Urinary Tract Infection in Children. Dr. Powers is currently accepting new patients.

Experienced in Dentatorubral-Pallidoluysian Atrophy
Neurology
Experienced in Dentatorubral-Pallidoluysian Atrophy
Neurology

Takoma Regional Hospital Inc

1406 Tusculum Blvd, Suite 2004, 
Greeneville, TN 
 (77.6 mi)
Languages Spoken:
English
Accepting New Patients
Offers Telehealth

Arvo Kanna is a Neurologist in Greeneville, Tennessee. Dr. Kanna and is rated as an Experienced provider by MediFind in the treatment of Dentatorubral-Pallidoluysian Atrophy. His top areas of expertise are Epilepsy Juvenile Absence, Absence Seizure, Autosomal Dominant Partial Epilepsy with Auditory Features, and Memory Loss. Dr. Kanna is currently accepting new patients.

 
 
 
 
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Experienced in Dentatorubral-Pallidoluysian Atrophy
Family Medicine
Experienced in Dentatorubral-Pallidoluysian Atrophy
Family Medicine

Nv Pacs 2 LLC

505 N Roan St, 
Johnson City, TN 
 (79.2 mi)
Languages Spoken:
English, Hindi
Accepting New Patients

Deepika Tumkur is a Family Medicine provider in Johnson City, Tennessee. Dr. Tumkur and is rated as an Experienced provider by MediFind in the treatment of Dentatorubral-Pallidoluysian Atrophy. Her top areas of expertise are COVID-19, End-Stage Renal Disease (ESRD), Urea Cycle Disorders (UCD), and Carbamoyl Phosphate Synthetase 1 Deficiency. Dr. Tumkur is currently accepting new patients.

What are the latest Dentatorubral-Pallidoluysian Atrophy Clinical Trials?
CureDRPLA Global Patient Registry for Individuals With Dentatorubral-pallidoluysian Atrophy (DRPLA)

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...

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A Phase 1/2 Open Label Study to Evaluate the Safety and Efficacy of Intrathecally Administered ION283 in Patients With Lafora Disease

Summary: This study will test the safety and efficacy of multiple doses of ION283 administered as intrathecal (IT) injections by lumbar puncture (LP). All subjects will receive ION283. The dose level of 15 mg will be studied in all subjects.

Who are the sources who wrote this article ?

Published Date: December 05, 2023
Published By: National Institutes of Health