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Disease Profile

Parkinson disease type 9

Prevalence
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 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

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

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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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.

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Not applicable

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Other names (AKA)

Park 9; Pallidopyramidal degeneration with supranuclear upgaze paresis, and dementia; KRPPD;

Categories

Congenital and Genetic Diseases; Eye diseases; Metabolic disorders;

Summary

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.

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
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
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

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.

    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

      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.