NBIA/DYT/PARK-PLA2G6

Title

Other Names:

Dystonia-parkinsonism, Paisan-Ruiz type; PLA2G6-related dystonia-parkinsonism; Parkinson disease 14, autosomal recessive; Dystonia-parkinsonism, Paisan-Ruiz type; PLA2G6-related dystonia-parkinsonism; Parkinson disease 14, autosomal recessive; DYSTONIA-PARKINSONISM, ADULT-ONSET; PARK14; Adult-onset dystonia-parkinsonism See More

Categories:

Congenital and Genetic Diseases; Metabolic disorders; Nervous System Diseases

Summary Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.

Orpha Number: 199351

Disease definition

Adult-onset dystonia-parkinsonism is a rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline.

Epidemiology

Prevalence is unknown. Only 14 cases have been reported to date.

Clinical description

Disease onset occurs in late adolescence or early adulthood (usually before the age of 30) and usually presents with parkinsonism (tremor, rigidity, bradykinesia), dystonia and rapid cognitive decline. Eye movement abnormalities (supranuclear vertical gaze palsy, eyelid opening apraxia), pyramidal tract signs, and psychiatric features such as depression and personality changes have also been reported in some patients. Dopaminergic treatment is initially successful with regard to parkinsonism, but the development of prominent dyskinesias often follows.

Etiology

Adult-onset dystonia-parkinsonism is caused by mutations in the phospholipase A2, group VI (PLA2G6) gene located on chromosome 22q13.1.

Genetic counseling

Adult-onset dystonia-parkinsonism is inherited in an autosomal recessive manner, and genetic counseling is possible and recommended.

Visit the Orphanet disease page for more resources.

Last updated: 11/1/2013

Symptoms Symptoms

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.

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Medical Terms	Other Names	Learn More: HPO ID
30%-79% of people have these symptoms
Abnormal levels of creatine kinase in blood		0040081
Bradykinesia	Slow movements Slowness of movements [ more ]	0002067
Clumsiness		0002312
Dysarthria	Difficulty articulating speech	0001260
Dyslexia	Reading disability	0010522
Dysphagia	Poor swallowing Swallowing difficulties Swallowing difficulty [ more ]	0002015
Eyelid apraxia	Difficulty opening the eyelids	0000658
Focal dystonia		0004373
Frontotemporal cerebral atrophy		0006892
Frontotemporal dementia		0002145
Generalized cerebral atrophy/hypoplasia	Generalized cerebral degeneration/underdevelopment	0007058
Hyperreflexia	Increased reflexes	0001347
Hypometric saccades		0000571
Hypomimic face	Dull facial expression	0000338
Neurofibrillary tangles		0002185
Parkinsonism with favorable response to dopaminergic medication		0002548
Postural instability	Balance impairment	0002172
Progressive extrapyramidal movement disorder		0007153
Rigidity	Muscle rigidity	0002063
Spasticity	Involuntary muscle stiffness, contraction, or spasm	0001257
Stiff hip	Hip stiffness	0025262
Tremor	Tremors	0001337
5%-29% of people have these symptoms
Depressivity	Depression	0000716
Global developmental delay		0001263
Iron accumulation in brain		0012675
Myoclonus		0001336
Paranoia		0011999
Personality changes	Personality change	0000751
Seizures	Seizure	0001250
Supranuclear gaze palsy		0000605
Percent of people who have these symptoms is not available through HPO
Aggressive behavior	Aggression Aggressive behaviour Aggressiveness [ more ]	0000718
Apraxia		0002186
Autosomal recessive inheritance		0000007
Dystonia		0001332
Elevated serum creatine phosphokinase	Elevated blood creatine phosphokinase Elevated circulating creatine phosphokinase Elevated creatine kinase Elevated serum CPK Elevated serum creatine kinase High serum creatine kinase Increased CPK Increased creatine kinase Increased creatine phosphokinase Increased serum CK Increased serum creatine kinase Increased serum creatine phosphokinase [ more ]	0003236
Global brain atrophy	Generalized brain degeneration	0002283
Parkinsonism		0001300
Rapidly progressive	Worsening quickly	0003678

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 2/1/2019

Do you have updated information on this disease? We want to hear from you.

Organizations 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

International Parkinson and Movement Disorder Society
555 East Wells Street, Suite 1100
Milwaukee, WI 53202-3823
Telephone: +1-414-276-2145
Fax: +1-414-276-3349
E-mail: info@movementdisorders.org
Website: https://www.movementdisorders.org/

Do you know of an organization? We want to hear from you.

Learn More 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.

In-Depth Information

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.

News & Events News & Events

News

NIH Hosts Rare Disease Day Event, Twitter Chat
January 24, 2019

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