National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Parkinson disease type 9



Other Names:
Park 9; Pallidopyramidal degeneration with supranuclear upgaze paresis, and dementia; KRPPD; Park 9; Pallidopyramidal degeneration with supranuclear upgaze paresis, and dementia; KRPPD; Kufor-Rakeb syndrome; Autosomal recessive Parkinson disease 9 See More
Categories:
This disease is grouped under:

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

Orpha Number: 306674

Definition
Kufor-Rakeb syndrome (KRS) is a rare genetic neurodegenerative disorder characterized by juvenile Parkinsonism, pyramidal degeneration (dystonia), supranuclear palsy, and cognitive impairment.

Visit the Orphanet disease page for more resources.
Last updated: 10/1/2016

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
80%-99% of people have these symptoms
Babinski sign 0003487
Dementia
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
Abnormality of the foot
Abnormal feet morphology
Abnormality of the feet
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
Dysarthria
Difficulty articulating speech
0001260
Dysphagia
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 dystonia 0031008
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Seizure 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
Ataxia 0001251
Autosomal recessive inheritance 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
Spasticity
Involuntary muscle stiffness, contraction, or spasm
0001257
Supranuclear gaze palsy 0000605
Torticollis
Wry neck
0000473
Tremor 0001337
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Last updated: 7/1/2020

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.

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.


If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources


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


Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Financial Resources

  • The Assistance Fund provides various services, including education and financial aid, to help patients with a chronic or serious illness cover the cost of FDA-approved medications. Patients must be U.S citizens or permanent residents.

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.

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