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.
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. 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.
The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Frontal release signs||45%|
|Autosomal dominant inheritance||-|
|Neuronal loss in central nervous system||-|
|Supranuclear gaze palsy||-|
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
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.
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.
GARD Information Navigator
May 10, 2016
Third NIH Workshop on Gaucher Disease and Parkinsonism Thursday, April 8, 2010 -
Friday, April 9, 2010
Location: NIH- the Cloister, Bethesda, Maryland
Description: Workshop goals were to (1) determine the appropriate human, animal, or cell-based models to better understand this correlation; (2) explore the mechanisms and/or pathways involved; and (3) establish international collaborations to enhance progress in the field and to make recommendations for future study.
Contact: Dr. Ellen Sidransky301email@example.com
Co-funding Institute(s): National Human Genome Research Institute, Office of Rare Diseases Research
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Should genetic testing be done for this disorder? There are 2 brothers who have been diagnosed with this and my daughter's father-in-law is one of them. The concern is for the children and grandchildren of this man. See answer
My mother was diagnosed with progressive supranuclear palsy. It took quite a long time to narrow it down to get this correctly diagnosed. She had every symptom of the disease, and she ended up unable to swallow. She passed away, suffering a horrible death. The question I have is could progressive supranuclear palsy be hereditary? See answer
My identical twin sister has been diagnosed with progressive supranuclear palsy (PSP). As it seems this disease may have a genetic cause, what is the chance that I would also develop PSP? And within what timeframe? See answer
I think that I may have progressive supranuclear palsy. How is it diagnosed and treated? See answer