Progressive supranuclear palsy
- Supranuclear palsy, progressive
- Steele-Richardson-Olszewski Syndrome
- Familial progressive supranuclear palsy (type)
Your QuestionI think that I may have progressive supranuclear palsy. How is it diagnosed and treated?
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Questions on this page
- What is progressive supranuclear palsy?
- What are the signs and symptoms of progressive supranuclear palsy?
- What causes progressive supranuclear palsy?
- How is progressive supranuclear palsy diagnosed?
- How might progressive supranuclear palsy be treated?
- What is the long-term outlook for people with progressive supranuclear palsy?
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 MAPT gene gives the body instructions to make a protein called tau. This protein is found in nerve cells (neurons) in the brain and in other parts of the nervous system. It plays a part in putting together and stabilizing components of the structure of cells, helping cells to keep their shape, and aiding in cell division and the transport of materials. It appears that gene mutations or variations that affect the function of the tau protein cause PSP, or cause an increased risk for a person to develop PSP.
Abnormal tau is also found in people with PSP who don't have MAPT mutations. Therefore, researchers think that additional genetic and environmental factors contribute to the development of PSP. However, other specific genes that may be involved have not yet been identified.
A diagnosis of PSP is currently based on the signs and symptoms present (clinical features). Identifying early gait instability and difficulty moving the eyes (the hallmark of the disease), as well as ruling out other conditions, are most important. There is no laboratory test or imaging study that is diagnostic. Identifying neurofibrillary tangles (aggregates of tau) in their characteristic distribution aids in the diagnosis.
- Management of dysphagia and dysarthria with the help of dietitians 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
- Progressive Supranuclear Palsy Fact Sheet. NINDS. November 5, 2015; http://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; http://ghr.nlm.nih.gov/condition/progressive-supranuclear-palsy.
- Stewart A Factor, Christine Doss Esper. Progressive supranuclear palsy (PSP). UpToDate. Waltham, MA: UpToDate; December, 2015;