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Disease Profile
Progressive supranuclear palsy
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 / 100 000
Age of onset
Adult
ICD-10
G23.1
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)
Supranuclear palsy, progressive; PSP; Steele-Richardson-Olszewski Syndrome;
Summary
Progressive supranuclear palsy (PSP) is a degenerative neurologic disease due to damage to nerve
Symptoms
As PSP progresses, most people develop blurring of vision and problems controlling eye movement. This can lead to involuntarily closing the eyes; prolonged or infrequent blinking; or difficulty opening the eyes. Some people have trouble maintaining eye contact during a conversation.[1]
Other issues develop as the disease advances, including slow movement (bradykinesia), clumsiness, and stiffness. These problems worsen with time, with most affected people ultimately needing a wheelchair.[3] Weakening of the muscles in the mouth, tongue and throat lead to slurred speech and difficulty swallowing. This often causes aspiration pneumonia, the most common cause of death in people with PSP.[1]
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 | ||
Abnormal synaptic transmission | 0012535 | |
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ] |
0002015 | |
Falls | 0002527 | |
Impulsivity |
Impulsive
|
0100710 |
Neuronal loss in |
Loss of brain cells
|
0002529 |
Postural instability |
Balance impairment
|
0002172 |
Supranuclear ophthalmoplegia | 0000623 | |
Unsteady gait |
Unsteady walk
|
0002317 |
30%-79% of people have these symptoms | ||
Aphasia |
Difficulty finding words
Losing words
Loss of words
[ more ] |
0002381 |
Blepharospasm |
Eyelid spasm
Eyelid twitching
Involuntary closure of eyelid
Spontaneous closure of eyelid
[ more ] |
0000643 |
Bradykinesia |
Slow movements
Slowness of movements
[ more ] |
0002067 |
Cerebral cortical atrophy |
Decrease in size of the outer layer of the brain due to loss of brain cells
|
0002120 |
Delayed speech and language development |
Deficiency of speech development
Delayed language development
Delayed speech
Delayed speech acquisition
Delayed speech development
Impaired speech and language development
Impaired speech development
Language delay
Language delayed
Language development deficit
Late-onset speech development
Poor language development
Speech and language delay
Speech and language difficulties
Speech delay
[ more ] |
0000750 |
Depressivity |
Depression
|
0000716 |
Gliosis | 0002171 | |
Memory impairment |
Forgetfulness
Memory loss
Memory problems
Poor memory
[ more ] |
0002354 |
Pseudobulbar signs | 0002200 | |
Slow saccadic eye movements |
Slow eye movements
|
0000514 |
Vertical supranuclear gaze palsy | 0000511 | |
5%-29% of people have these symptoms | ||
Dementia, progressive
Progressive dementia
[ more ] |
0000726 | |
Rigidity |
Muscle rigidity
|
0002063 |
Tremor | 0001337 | |
1%-4% of people have these symptoms | ||
Frontal release signs | 0000743 | |
Limb |
0002451 | |
Percent of people who have these symptoms is not available through HPO | ||
Adult onset |
Symptoms begin in adulthood
|
0003581 |
Akinesia | 0002304 | |
Apathy |
Lack of feeling, emotion, interest
|
0000741 |
0000006 | ||
Axial dystonia | 0002530 | |
Blurred vision | 0000622 | |
Diplopia |
Double vision
|
0000651 |
Difficulty articulating speech
|
0001260 | |
Eyelid apraxia |
Difficulty opening the eyelids
|
0000658 |
Frontolimbic dementia | 0002439 | |
Gait imbalance |
Abnormality of balance
Abnormality of equilibrium
Imbalanced walk
[ more ] |
0002141 |
Granulovacuolar degeneration | 0002528 | |
Irritability |
Irritable
|
0000737 |
Mutism |
Inability to speak
Muteness
[ more ] |
0002300 |
Neurofibrillary tangles | 0002185 | |
Neuronal loss in basal ganglia | 0200147 | |
Parkinsonism | 0001300 | |
Photophobia |
Extreme sensitivity of the eyes to light
Light hypersensitivity
[ more ] |
0000613 |
Retrocollis | 0002544 | |
Supranuclear gaze palsy | 0000605 |
Cause
The MAPT gene gives the body instructions to make a
Abnormal tau is also found in people with PSP who don't have MAPT mutations. Therefore, researchers think that additional genetic and
Diagnosis
The Genetic Testing Registry (GTR) provides information about the genetic tests available for PSP. People interested in genetic testing for PSP are encouraged to speak with a genetics professional for additional information.
A diagnosis of PSP is currently based on the signs and symptoms present (clinical features).[5] Identifying early gait instability and difficulty moving the eyes (the hallmark of the disease), as well as ruling out other conditions, are most important.[1] There is no laboratory test or
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
- Management of
dysphagia anddysarthria with the help ofdietitians as well as speech and language therapists - Early occupational therapy to promote longer independence in performing activities of daily living
- The use of mirror-prism lenses for those with severe limitation of extraocular movements to read and feed themselves
- The use of eyelid crutches, alone or in combination with botox therapy, for inability to open the eyes and blepharospasm
Physical therapy for symptomatic treatment of postural instability and falls, including gait and balance training[5]
A surgical procedure called a gastrostomy may be necessary when there are swallowing disturbances or a high risk of severe choking.[1]
Related diseases
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
|
---|
Differential diagnosis includes Parkinson disease and other atypical parkinsonian disorders (APD) such as multiple system atrophy and corticobasal degeneration (see these terms). Similar eye movement abnormalities can occur in Niemann-Pick disease type C and Whipple's disease (see these terms).
Visit the Orphanet disease page for more 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
-
Association for Frontotemporal Degeneration (AFTD)
2700 Horizon Drive, Suite 120
King of Prussia, PA 19406
Toll-free: 1-866-507-7222
Telephone: +1-267-514-7221
E-mail: [email protected]
Website: https://www.theaftd.org/ -
CurePSP
1216 Broadway, 2nd Floor
New York, NY 10001
Toll-free: 1-800-457-4777
Telephone: +1-347-294-2873 (CURE)
Fax: +1-410-785-7009
E-mail: [email protected]
Website: https://www.psp.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.
Where to Start
- MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
- Genetics Home Reference (GHR) contains information on Progressive supranuclear palsy. This website is maintained by the National Library of Medicine.
- The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
- 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 Progressive supranuclear palsy. Click on the link to view a sample search on this topic.
Selected Full-Text Journal Articles
- Melquist, Stacey et.al., Identification of a Novel Risk Locus for Progressive Supranuclear Palsy by a Pooled Genomewide Scan of 500,288 Single-Nucleotide Polymorphisms, Am J Hum Genet. 2007 April; 80(4): 769–778.
References
- Progressive Supranuclear Palsy Fact Sheet. NINDS. November 5, 2015; https://www.ninds.nih.gov/disorders/psp/detail_psp.htm.
- Im SY, Kim YE, Kim YJ. Genetics of Progressive Supranuclear Palsy. J Mov Disord. September, 2015; 8(3):122-129.
- Progressive Supranuclear Palsy. Genetics Home Reference. May, 2015; https://ghr.nlm.nih.gov/condition/progressive-supranuclear-palsy.
- Progressive supranuclear palsy. NORD. 2014; https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/287/viewAbstract.
- Stewart A Factor, Christine Doss Esper. Progressive supranuclear palsy (PSP). UpToDate. Waltham, MA: UpToDate; December, 2015;
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