Living with Dentatorubral-pallidoluysian atrophy
A progressive brain condition that causes movement problems, mood and mental changes, and a decline in thinking.
Understanding Dentatorubral-pallidoluysian atrophy
The average age of onset is around 30, but it can appear anywhere from infancy to mid-adulthood. When it starts before age 20, it often involves muscle jerking, seizures, and learning problems. When it starts later, it often involves poor coordination, uncontrolled limb movements, psychiatric symptoms, and dementia.
Signs & symptoms
Symptoms vary from person to person and by age of onset. GARD lists these among the most common:
- Poor coordination and balance (ataxia)
- Writhing, uncontrolled movements (choreoathetosis)
- Dementia
- Difficulty speaking clearly
- Tremor
- Optic nerve damage
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in ATN1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Epilepsy Foundation and National Ataxia Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Epilepsy Foundation, National Ataxia Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Epilepsy Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the ATN1 gene cause this condition. It is autosomal dominant, so a changed copy of the gene from one parent can be enough.
Also known as: ataxia, chorea, seizures, and dementia; dentatorubral pallidoluysian atrophy; dentatorubral-pallidoluysian atrophy (drpla); dentatorubropallidoluysian atrophy; dentatorubropallidoluysian degeneration; drpla
Patient organizations
- Epilepsy FoundationDentatorubral-pallidoluysian atrophy · United States
- CureDRPLADentatorubral-pallidoluysian atrophy · United States
- National Ataxia FoundationAtaxia · United States
You are more than your diagnosis
Perspectives from people navigating life with Dentatorubral-pallidoluysian atrophy.
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