$Unique_ID{BRK03505} $Pretitle{} $Title{Ataxia, Marie's} $Subject{Ataxia, Marie's Pierre-Marie's Disease Hereditary Cerebellar Ataxia Nonne's Syndrome Cerebellar Syndrome Friedreich's Ataxia Charcot-Marie-Tooth Disease, also known as CMT Disease Ataxia Telangiectasia Olivopontocerebellar Atrophy} $Volume{} $Log{} Copyright (C) 1987, 1988, 1990 National Organization for Rare Disorders, Inc. 403: Ataxia, Marie's ** IMPORTANT ** It is possible the main title of the article (Marie's Ataxia) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms Pierre-Marie's Disease Hereditary Cerebellar Ataxia Nonne's Syndrome Cerebellar Syndrome Information on the following diseases can be found in the Related Disorders section of this report: Friedreich's Ataxia Charcot-Marie-Tooth Disease, also known as CMT Disease Ataxia Telangiectasia Olivopontocerebellar Atrophy General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Marie's Ataxia is an inherited disorder of impaired muscle coordination usually beginning during young adulthood or middle age. This hereditary form of ataxia is characterized by unsteady walking. Nerve degeneration and muscle atrophy in the legs, head and neck area and arms may occur. Cases that begin later in life may be mild with symptoms that can often be treated successfully. Symptoms Marie's Ataxia is often first noticed because of unsteadiness walking down stairs, ramps or on uneven ground. Falling down tends to become a hazard as the disease progresses. Coordination of the arms may become impaired and tremors sometimes occur. When muscles of the head and neck are affected, a patient's speech may become hard to understand. Swallowing and clearing of secretions (as from the lungs) can become difficult. Muscle weakness around the eyes (extraocular) and in the facial muscles, atrophy of the tongue, and a weak cough may also be present. Choking is a major concern for people affected by this form of ataxia. Pneumonia can develop in some cases as a complication. Symptoms not usually associated with some other types of ataxia such as reflex abnormalities, widespread muscle weakness with atrophy, involuntary muscle contractions and in some cases, altered pain and/or touch perceptions can occur. Bladder control and sexual function are usually not affected. Vision abnormalities may develop late in the course of Marie's Ataxia. Some mental deterioration, rapid involuntary movements (chorea) and/or slow writhing movements of the hands (athetosis) have been seen in advanced cases. Causes Marie's Ataxia is inherited as a dominant trait. Symptoms may be caused by atrophy of the cerebellum and areas of the spinal cord. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.) Affected Population There are approximately 7,000 known cases of Marie's Ataxia in the United States. Some researchers believe the total may be higher. Related Disorders Ataxia results in walking with an unsteady gait caused by the failure of muscular coordination or irregularity of muscular action. There are many forms of ataxia. Some ataxias are hereditary, some have other causes and sometimes ataxia can be a symptom of other disorders. To locate information about other types of ataxias choose "Ataxia" as your search term on the Rare Disease Database. Symptoms of the following disorders can be similar to Marie's Ataxia. Comparisons may be useful for a differential diagnosis: Friedreich's Ataxia is a hereditary neuromuscular syndrome characterized by slow degenerative changes of the spinal cord and the brain. Dysfunction of the central nervous system affects coordination of the muscles in the limbs. Speech can be affected and numbness or weakness of the arms and legs may develop. Various transitional and overlapping forms of Friedreich's Ataxia can occur. Although no specific treatment can stop the progression of this disorder, some symptoms can be alleviated with proper treatment. In a few cases, spontaneous remissions may occur which can last five to ten years or sometimes longer. This syndrome appears to be the most common of the many different forms of the hereditary ataxias and usually begins during childhood or the teen years. (For more information on Friedreich's Ataxia, choose "Friedreich's Ataxia" as your search term in the Rare Disease Database). Charcot-Marie-Tooth (CMT) Disease is a hereditary neurological disorder characterized by weakness and atrophy, primarily in the legs. Disappearance of the fatty shield surrounding the nerves (segmental demyelination of peripheral nerves), and associated degeneration of part of the nerve cells (axons) characterize this disorder. (For more information on Charcot-Marie- Tooth Disease, choose "CMT" as your search term in the Rare Disease Database). Ataxia Telangiectasia, also known as Louis-Bar Syndrome, is an inherited progressive cerebellar ataxia that usually begins during infancy. It involves progressive loss of coordination in limbs, head and eyes with a below-normal immune response to infections. In later stages, dilated blood vessels (telangiectasias) appear in the eyes and skin. Individuals with this form of ataxia are more susceptible to sinus and lung infections and tend to have tumors (neoplasia). Ataxia Telangiectasia may be misdiagnosed as Friedreich's Ataxia until telangiectasias appear. (For more information on Ataxia Telangiectasia, choose "Ataxia Telangiectasia " as your search term in the Rare Disease Database). Olivopontocerebellar Atrophy (OPCA) is a group of inherited forms of ataxia characterized by degeneration of the olivopontocerebellar area of the brain. These include Menzel type 1, Fickler-Winkler type 2, retinal degeneration type 3, Schut-Haymaker type 4, and Ophthalmoplegia (paralysis of facial and eye muscles) type 5 OPCA. As in other forms of Ataxia, progressive muscular and skeletal symptoms can occur in different combinations and degrees of severity. Complications such as vision and hearing difficulties with mental deterioration may also occur. (For more information on Olivopontocerebellar Atrophy, choose "Olivopontocerebellar" as your search term in the Rare Disease Database). Therapies: Standard Treatment of Marie's Ataxia is directed at controlling symptoms. The drug propranolol can be effective for control of some tremors. Dantrolene sodium may be of limited help for patients with leg muscle spasms. However, possible side effects of these drugs require strict monitoring by a doctor. Pneumonia may be prevented in some cases by using proper eating precautions, postural drainage (the head is lower than the rest of the body) and careful use of antibiotics. Foods which could trigger choking spells should be avoided. Physical therapy and encouraging a patient to continue walking daily as long as possible can be helpful in cases with slowly progressive muscle atrophy. Vision problems may be treated with corrective lenses, drugs or surgery. Other treatment is symptomatic and supportive. Therapies: Investigational Research on Marie's Ataxia is ongoing. Experimental drugs, analysis of cell cultures and central nervous system tissues are being studied. Identification of the gene that causes this syndrome is also being pursued. The multiprogrammable spinal cord stimulator involves epidural spinal electrostimulation (ESES). This is a medical device under evaluation for control of motor dysfunction which is associated with bladder control. This device can be surgically implanted in the spine and may be of therapeutic benefit to patients with some types of Ataxia as well as other neuromuscular disorders. The procedure is being tried on an experimental basis in cases when conservative measures have proven ineffectual. The goal is to increase the range of mobility and alleviate muscle spasms (spasticity) and pain. For further information on ESES devices, please contact: Food and Drug Administration Office for Orphan Product Development HF-35 FDA Rm. 12-11 5600 Fishers Lane Rockville, MD 20857 (301) 443-4903 A controlled study of ESES devices is being conducted by: Neuromed 5000 Oakes Rd. Ft. Lauderdale, Florida 33314 (305) 584-3600. Clinical trials of the orphan drug physostigmine salicylate (Antilirium) for treatment of Marie's Ataxia and other inherited forms of ataxia are underway. For additional information, physicians can contact: Forrest Pharmaceuticals 2510 Metro Blvd. Maryland Heights, MO 64043-00 For information on additional therapies that have been designated as Orphan Drugs in the last few months, please return to the main menu of NORD Services and access the Orphan Drug Database. This disease entry is based upon medical information available through March 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Marie's Ataxia, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Ataxia Foundation 750 Twelve Oaks Center 15500 Wayzata Blvd. Wayzata, MN 55391 (612) 473-7666 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 The following organization provides clinical services for people with Ataxia including the provision of orthopedic aids, recreation at summer and winter camps, and transportation assistance: Muscular Dystrophy Association, National Office 3300 E. Sunrise Dr. Tucson, AZ 85718 (602) 529-2000 For information on genetics and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References SPINOCEREBELLAR ATAXIA ASSOCIATED WITH LOCALIZED AMYOTROPHY OF THE HANDS, SENSORINEURAL DEAFNESS AND SPASTIC PARAPARESIS IN TWO BROTHERS: F. Gemignani; J Neurogenet (March 1986, issue 3(2)). Pp. 125-133. TREATMENT OF PATIENTS WITH DEGENERATIVE DISEASES OF THE CENTRAL NERVOUS SYSTEM BY ELECTRICAL STIMULATION OF THE SPINAL CORD: D.M. Dooley, et al.; Confin Neurol (1981, issue 44(1-3)). Pp. 71-76. OTONEUROLOGIC SYMPTOMATOLOGY IN HEREDITARY CEREBELLAR ATAXIA (PIERRE MARIE DISEASE): IIa Kalinovskaia, et al.; Zh Nevropatol Psikhiatr (1980, issue 80(3)). Pp. 367-372.