Ramsay-Hunt syndrome type II

Definition

Ramsay-Hunt syndrome type II is a very rare, progressive neurological disorder that causes epilepsy , tremor, mental impairment, and eventually death.

Description

Ramsay-Hunt syndrome type II begins in adulthood. It is a relentlessly progressive degenerative disease that culminates in death, characterized by Parkinson-like tremors , and muscle jerks (myoclonus ).

Demographics

The average age of onset is about 30 years of age.

Causes and symptoms

Some cases seem to be caused by abnormalities of the mitochondria within the cell. Mitochondria are the cells' power stations. They are organelles within each cell that are responsible for producing energy.

Some cases of Ramsay-Hunt syndrome type II appear to be inherited in an autosomal dominant fashion, meaning that a child who has one parent with the abnormal gene has a 50:50 chance of inheriting the disorder. Other cases appear to be inherited in an autosomal recessive fashion, meaning that individuals who develop the disease have inherited defective genes from both parents.

Ramsay-Hunt syndrome type II begins as an intention tremor in the limbs, particularly the arms. An intention tremor is an involuntary shaking or trembling that occurs when an individual is attempting a purposeful movement; the tremor is not manifested when the individual is at rest. The intention tremor generally occurs in just one limb. Over time, the entire muscular system is affected. In addition to the tremor, individuals with Ramsay-Hunt syndrome type II experience sudden twitching or contraction of muscle groups, called myoclonus. Some individuals experience progressive hearing impairment. As the disease progresses, the individual experiences decreased muscle tone, increasing weakness, disturbances of fine motor control, difficulty walking, epilepsy, and (in some cases) mental deterioration. The disease usually progresses over the course of about 10 years, ultimately resulting in the death of the patient.

Diagnosis

An electroencephalogram (EEG) may reveal certain abnormalities of the electrical patterns in the brain. Muscle biopsy may or may not reveal mitochondrial abnormalities.

Treatment team

Ramsay-Hunt syndrome type II is usually diagnosed and treated by a neurologist . In an effort to maintain functioning as long as possible, other treatment members may include physical therapists, occupational therapists, and speech and language therapists.

Treatment

There is no cure for Ramsay-Hunt syndrome type II. Seizures may respond to antiseizure medications such as phenobarbital , clonazepam, or valproic acid. The involuntary muscle jerking (myoclonus) may decrease with such medication as valproic acid; benzodiazepines such as clonazepam; L-tryptophan; 5-hydroxytryptophan with carbidopa; or piracetam.

Prognosis

Ramsay-Hunt syndrome type II generally progresses to death within about 10 years of the onset of symptoms.

Resources

BOOKS

Foldvary-Schaefer, Nancy, and Elaine Wyllie. "Epilepsy." In Textbook of Clinical Neurology, edited by Christopher G. Goetz. Philadelphia: W.B. Saunders Company, 2003.

PERIODICALS

Sacquegna, T. "Normal Muscle Mitochondrial Function in Ramsay-Hunt Syndrome." Italian Journal of Neurological Science 10 (1) (1 February 1989): 73–75.

Tassinari, C. A. "Dyssenergia Cerebellaris Myoclonica (Ramsay-Hunt Syndrome): A Condition Unrelated to Mitochondrial Encephalomyopathies." Journal of Neurology, Neurosurgery, and Psychiatry 52 (2) (1 February 1989): 262–265.

WEBSITES

National Institute of Neurological Disorders and Stroke (NINDS). Ramsay-Hunt Syndrome Type II Fact Sheet. (May 23, 2004.) <http://www.ninds.nih.gov/health_and_medical/disorders/ramsey2.htm>.

ORGANIZATIONS

National Ataxia Foundation. 2600 Fernbrook Lane, Suite 119, Minneapolis, MN 55447-4752. (763) 553-0020; Fax: (763) 553-0167. [email protected]. <http://www.ataxia.org>.

WE MOVE. 204 West 84th Street, New York, NY 10024. (212) 875-8389 or (800) 437-MOV2. [email protected]. <http://www.wemove.org>.

Rosalyn Carson-DeWitt, MD