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Disease Profile
Dentatorubral-pallidoluysian atrophy
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-9 / 1 000 000
Age of onset
All ages
ICD-10
G11.8
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
DRPLA; Myoclonic epilepsy with choreoathetosis; Naito Oyanagi disease;
Categories
Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Endocrine Diseases;
Summary
Dentatorubral-pallidoluysian atrophy (DRPLA) is a brain disorder that worsens over time. It can lead to involuntary movements, mental and emotional problems, and a decline in thinking ability. Symptoms usually appear around 30 years of age, but can occur anytime from infancy to mid-adulthood. Specific signs and symptoms may differ and include
Symptoms
When DRPLA begins before 20 years of age, it typically involves:[1][3]
- Involuntary muscle jerking or twitching (myoclonus)
Seizures - Behavioral changes
Intellectual disability (cognitive issues)- Problems with balance and coordination (
ataxia )
Epileptic seizures occur in all people with onset before 20 years of age.[3]
When DRPLA begins after 20 years of age, the most frequent signs and symptoms include:[1][3]
- Ataxia
- Uncontrollable movements of the limbs (choreoathetosis)
- Psychiatric symptoms (such as delusions)
Dementia
Seizures are less frequent in people with onset between the ages of 20 and 40 and rarely occur in those with onset after age 40.[3]
People who have
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
80%-99% of people have these symptoms | ||
Atrophy of the dentate |
0007047 | |
Fetal cystic hygroma | 0010878 | |
Progressive cerebellar ataxia | 0002073 | |
30%-79% of people have these symptoms | ||
Action tremor | 0002345 | |
Choreoathetosis | 0001266 | |
Dementia |
Dementia, progressive
Progressive dementia
[ more ] |
0000726 |
Difficulty articulating speech
|
0001260 | |
Dysdiadochokinesis |
Difficulty performing quick and alternating movements
|
0002075 |
Dysmetria |
Lack of coordination of movement
|
0001310 |
Dyssynergia | 0010867 | |
Gait ataxia |
Inability to coordinate movements when walking
|
0002066 |
Hyperintensity of cerebral white matter on |
0030890 | |
Hyporeflexia |
Decreased reflex response
Decreased reflexes
[ more ] |
0001265 |
Impaired proprioception | 0010831 | |
Limb ataxia | 0002070 | |
Myoclonus | 0001336 | |
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
Ophthalmoparesis |
Weakness of muscles controlling eye movement
|
0000597 |
Optic neuropathy |
Damaged optic nerve
|
0001138 |
Saccadic smooth pursuit | 0001152 | |
Seizure | 0001250 | |
Truncal ataxia |
Instability or lack of coordination of central trunk muscles
|
0002078 |
5%-29% of people have these symptoms | ||
Blepharospasm |
Eyelid spasm
Eyelid twitching
Involuntary closure of eyelid
Spontaneous closure of eyelid
[ more ] |
0000643 |
Memory impairment |
Forgetfulness
Memory loss
Memory problems
Poor memory
[ more ] |
0002354 |
Oromandibular |
0012048 | |
1%-4% of people have these symptoms | ||
Abnormal pyramidal sign | 0007256 | |
Ataxia | 0001251 | |
Chorea | 0002072 | |
Percent of people who have these symptoms is not available through HPO | ||
0000006 | ||
Genetic |
0003743 |
Cause
The ATN1 mutation that causes DRPLA involves a
Diagnosis
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
Testing Resources
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Treatment
- Treatment of
seizures with anti-epileptic drugs - Treatment of psychiatric problems with appropriate psychotropic medications
- Adaptation of environment and care to the level of
dementia - Adaptation of educational programs for affected children
A medication typically used to slow the progress of amyotrophic lateral sclerosis (ALS or Lou Gehrig's disease) called riluzole may also be useful in managing
Organizations
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Organizations Supporting this Disease
-
Ataxia UK
12 Broadbent Close
London, N6 5JW United Kingdom
Toll-free: 0845 644 0606 (Helpline)
Telephone: 020 7582 1444
E-mail: [email protected]
Website: https://www.ataxia.org.uk/ -
National Ataxia Foundation
600 Highway 169 South
Suite 1725
Minneapolis, MN 55426
Telephone: +1-763-553-0020
Fax: +1-763-553-0167
E-mail: [email protected]
Website: https://ataxia.org/
Social Networking Websites
-
RareConnect has an online community for patients and families with this condition so they can connect with others and share their experiences living with a rare disease. The project is a joint collaboration between EURORDIS (European Rare Disease Organisation) and NORD (National Organization for Rare Disorders).
Organizations Providing General Support
-
Epilepsy Foundation
8301 Professional Place East
Suite 230
Landover, MD 20785
Toll-free: 800-332-1000 (24/7 Helpline)
Telephone: +1-301-459-3700
Fax: +1-301-577-2684
E-mail: [email protected]
Website: https://www.epilepsy.com/
en Español 1-866-748-8008
Learn more
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Where to Start
- Stanford University's HOPES Web site offers a detailed description of DRPLA with illustrations. Click on HOPES to view the information page.
- Genetics Home Reference (GHR) contains information on Dentatorubral-pallidoluysian atrophy. This website is maintained by the National Library of Medicine.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
In-Depth Information
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Dentatorubral-pallidoluysian atrophy. Click on the link to view a sample search on this topic.
References
- Dentatorubral-pallidoluysian atrophy. Genetics Home Reference (GHR). November 2008; https://ghr.nlm.nih.gov/condition/dentatorubral-pallidoluysian-atrophy.
- Fujioka S, Whaley N, Wszolek Z. Dentatorubral pallidoluysian atrophy. Orphanet. May 2011; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=101.
- Veneziano L, Frontali M. DRPLA. GeneReviews. June 9, 2016; https://www.ncbi.nlm.nih.gov/books/NBK1491/.
- van de Warrenburg BP, van Gaalen J, Boesch S, Burgunder JM et al. EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood.. Eur J Neurol. April 21, 2014; 552-62. https://www.ncbi.nlm.nih.gov/pubmed/24418350.
- Hasegawa A. Long-term disability and prognosis in dentatorubral-pallidoluysian atrophy: a correlation with CAG repeat length. Mov Disord. August 15, 2010; 25(11):1694-1700. https://www.ncbi.nlm.nih.gov/pubmed/20589872.
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