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Disease Profile
Parkinson disease type 9
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.
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Age of onset
Adolescent
ICD-10
G23.0
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)
Park 9; Pallidopyramidal degeneration with supranuclear upgaze paresis, and dementia; KRPPD;
Categories
Congenital and Genetic Diseases; Eye diseases; Metabolic disorders;
Summary
Orpha Number: 306674
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.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
80%-99% of people have these symptoms | ||
Babinski sign | 0003487 | |
Dementia, progressive
Progressive dementia
[ more ] |
0000726 | |
Hyperreflexia in upper limbs | 0007350 | |
Parkinsonism | 0001300 | |
Rigidity |
Muscle rigidity
|
0002063 |
Slow saccadic eye movements |
Slow eye movements
|
0000514 |
30%-79% of people have these symptoms | ||
Abnormality of finger |
Abnormalities of the fingers
|
0001167 |
Anarthria |
Loss of articulate speech
|
0002425 |
Cerebral cortical atrophy |
Decrease in size of the outer layer of the brain due to loss of brain cells
|
0002120 |
Confusion |
Disorientation
Easily confused
Mental disorientation
[ more ] |
0001289 |
Difficulty in tongue movements | 0000183 | |
Difficulty walking |
Difficulty in walking
|
0002355 |
Dyskinesia |
Disorder of involuntary muscle movements
|
0100660 |
Fatigue |
Tired
Tiredness
[ more ] |
0012378 |
Hypomimic face |
Dull facial expression
|
0000338 |
Leg muscle stiffness | 0008969 | |
Lethargy | 0001254 | |
Myoclonus | 0001336 | |
Oculogyric crisis | 0010553 | |
Short attention span |
Poor attention span
Problem paying attention
[ more ] |
0000736 |
Urinary incontinence |
Loss of bladder control
|
0000020 |
Visual hallucinations | 0002367 | |
5%-29% of people have these symptoms | ||
Abnormal foot morphology |
Abnormal feet structure
Abnormality of the feet
Abnormality of the foot
Foot deformities
Foot deformity
[ more ] |
0001760 |
Apathy |
Lack of feeling, emotion, interest
|
0000741 |
Blepharospasm |
Eyelid spasm
Eyelid twitching
Involuntary closure of eyelid
Spontaneous closure of eyelid
[ more ] |
0000643 |
Bowel incontinence |
Loss of bowel control
|
0002607 |
Bradykinesia |
Slow movements
Slowness of movements
[ more ] |
0002067 |
Distal sensory impairment |
Decreased sensation in extremities
|
0002936 |
Difficulty articulating speech
|
0001260 | |
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ] |
0002015 | |
Eyelid apraxia |
Difficulty opening the eyelids
|
0000658 |
Fever | 0001945 | |
Generalized muscle weakness | 0003324 | |
Hyperactive patellar reflex |
Overactive knee reflex
|
0007083 |
Hypertonia | 0001276 | |
Lingual |
0031008 | |
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
0001250 | ||
Stooped posture | 0025403 | |
Vertical supranuclear gaze palsy | 0000511 | |
Percent of people who have these symptoms is not available through HPO | ||
Aggressive behavior |
Aggression
Aggressive behaviour
Aggressiveness
[ more ] |
0000718 |
Akinesia | 0002304 | |
Anosmia |
Lost smell
|
0000458 |
0001251 | ||
0000007 | ||
Gait disturbance |
Abnormal gait
Abnormal walk
Impaired gait
[ more ] |
0001288 |
Hallucinations |
Hallucination
Sensory hallucination
[ more ] |
0000738 |
Hyperreflexia |
Increased reflexes
|
0001347 |
Hypokinesia |
Decreased muscle movement
Decreased spontaneous movement
Decreased spontaneous movements
[ more ] |
0002375 |
Hyposmia | 0004409 | |
Mask-like facies |
Expressionless face
Lack of facial expression
Mask-like facial appearance
[ more ] |
0000298 |
Paraparesis |
Partial paralysis of legs
|
0002385 |
Parkinsonism with favorable response to dopaminergic medication | 0002548 | |
Postural instability |
Balance impairment
|
0002172 |
Psychotic episodes | 0000725 | |
Rapidly progressive |
Worsening quickly
|
0003678 |
Spastic paraplegia | 0001258 | |
Involuntary muscle stiffness, contraction, or spasm
|
0001257 | |
Supranuclear gaze palsy | 0000605 | |
Torticollis |
Wry neck
|
0000473 |
Tremor | 0001337 |
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
FDA-Approved Treatments
The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.
- Apomorphine HCL(Brand name: Apokyn®) Manufactured by Ipsen Limited
FDA-approved indication: For the acute, intermittent treatment of hypomobility, "off" episodes ("end-of-dose-wearing-off" and unpredictable :on/off" episodes) associated with advanced Parkinson's disease
National Library of Medicine Drug Information Portal
Medline Plus Health Information
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: [email protected]
Website: https://www.movementdisorders.org/ -
Michael J. Fox Foundation for Parkinson's Research
Grand Central Station
P.O. Box 4777
New York, NY 10163-4777
Toll-free: 1-800-708-7644
E-mail: https://www.michaeljfox.org/foundation/contact-us.html
Website: https://www.michaeljfox.org/ -
Parkinson's Foundation
200 SE 1st Street
Suite 800
Miami, FL 33131
Toll-free: 1-800-473-4636 (Helpline)
E-mail: [email protected].
Website: https://www.parkinson.org/
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
- 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.
- 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 Parkinson disease type 9. Click on the link to view a sample search on this topic.