Progressive supranuclear palsy
Other Names for this Disease
- Familial progressive supranuclear palsy (type)
- Steele-Richardson-Olszewski Syndrome
- Supranuclear palsy, progressive
What are the signs and symptoms of progressive supranuclear palsy?
What causes progressive supranuclear palsy?
Is progressive supranuclear palsy inherited?
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?
Other common early symptoms are changes in personality (such as a loss of interest regular activities); increased irritability; cantankerousness; and forgetfulness. Affected people may suddenly laugh or cry for no apparent reason; they may also be apathetic, or have occasional angry outbursts.
As the disease progresses, most people will begin to develop a blurring of vision and problems controlling eye movement. Eye problems usually offer the first definitive clue that PSP is the diagnosis. Those with PSP have trouble shifting their gaze downward, and/or controlling their eyelids. This can lead to involuntary closing of the eyes, prolonged or infrequent blinking, or difficulty in opening the eyes. Another common visual problem is an inability to maintain eye contact during a conversation. This can give the mistaken impression that the affected person is hostile or uninterested.
Weakened movements of the mouth, tongue and throat can lead to slurred speech and difficulty swallowing. The inability of throat muscles to create a watertight seal outside the person's lungs often results in aspiration pneumonia - the most common cause of death in people with PSP.
In most cases, the underlying cause of PSP remains unknown. In a few cases, PSP has been associated with mutations in the MAPT gene. Researchers suspect that other genetic and environmental factors also contribute to PSP, but these factors have not yet been identified.
In the few families with multiple affected family members, autosomal dominant inheritance has been suggested. In autosomal dominant inheritance, having only one mutated copy of a disease-causing gene is enough to cause signs and symptoms of the condition. A few cases of PSP have been associated with having certain variations or mutations in the MAPT gene. However, in most cases, the responsible gene has yet to be identified. There may also be genes in which variants increase a person's risk to develop PSP. This means that the condition itself is not inherited, but a predisposition to developing PSP or a related condition may be inherited.
- Symptoms of disequilibrium, such as unsteady walking or abrupt and unexplained falls without loss of consciousness
- Visual complaints including blurred vision, difficulty looking up or down, double vision, light sensitivity, burning eyes, or other eye problems
- Slurred speech
- Various mental complaints such as slowness of thought, impaired memory, personality changes, and changes in mood
Another group of drugs that has been of some modest success in progressive supranuclear palsy are antidepressant medications. The most commonly used of these drugs are fluoxetine (Prozac), amitriptyline (Elavil), and imipramine (Tofranil). The benefit of these drugs seems not to be related to their ability to relieve depression.
Non-drug treatment for progressive supranuclear palsy can take many forms. Patients frequently use weighted walking aids because of their tendency to fall backward. Bifocals or special glasses called prisms are sometimes prescribed for patients to remedy the difficulty of looking down. Although formal physical therapy has not proven helpful in progressive supranuclear palsy, certain exercises can be done to keep the joints limber.
A surgical procedure that may be necessary when there are swallowing disturbances is a gastrostomy. A gastrostomy (or a jejunostomy) is a minimally invasive procedure which is performed when the patient has difficulty swallowing or when severe choking is a definite risk. This surgery involves the placement of a tube through the skin of the abdomen into the stomach (intestine) for feeding purposes.Additional information about treatment of progressive supranuclear palsy can be obtained through the following web pages developed by WE MOVE and Cure PSP:
- Progressive supranuclear palsy. MedlinePlus Medical Encyclopedia. May 2010; http://www.nlm.nih.gov/medlineplus/ency/article/000767.htm. Accessed 8/18/2011.
- Progressive supranuclear palsy. Genetics Home Reference. March 2011; http://ghr.nlm.nih.gov/condition/progressive-supranuclear-palsy. Accessed 9/7/2012.
- Progressive Supranuclear Palsy Fact Sheet. National Institute for Neurological Disorders and Stroke (NINDS). August 16, 2011; http://www.ninds.nih.gov/disorders/psp/detail_psp.htm. Accessed 8/18/2011.
- Progressive supranuclear palsy. NORD. January 27, 2014; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/287/viewAbstract. Accessed 9/2/2014.
- Cassandra L. Kniffin. Progressive supranuclear palsy. OMIM. May 31, 2012; http://omim.org/entry/601104. Accessed 9/2/2014.