$Unique_ID{BRK03650} $Pretitle{} $Title{Dejerine-Sottas Disease} $Subject{Dejerine-Sottas Disease Hypertrophic Interstitial Neuritis Hypertrophic Interstitial Radiculoneuropathy Onion-bulb Neuropathy Hereditary Motor Sensory Neuropathy Type III HSMN Type III Hypertrophic Interstitial Neuropathy Charcot-Marie-Tooth Disease Peroneal Muscular Atrophy Hereditary Sensory Radicular Neuropathy} $Volume{} $Log{} Copyright (C) 1987, 1990 National Organization for Rare Disorders, Inc. 364: Dejerine-Sottas Disease ** IMPORTANT ** It is possible the main title of the article (Dejerine-Sottas Disease) is not the name you expected. Please check the SYNONYMS listing to find the alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms Hypertrophic Interstitial Neuritis Hypertrophic Interstitial Radiculoneuropathy Onion-bulb Neuropathy Hereditary Motor Sensory Neuropathy Type III, also known as HSMN Type III Hypertrophic Interstitial Neuropathy Information on the following diseases can be found in the Related Disorders section of this report: Charcot-Marie-Tooth Disease, also known as Peroneal Muscular Atrophy Hereditary Sensory Radicular Neuropathy 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. Dejerine-Sottas Disease is a hereditary neurological disorder which progressively affects mobility. Peripheral nerves become enlarged or thickened causing an irregular progression of muscle weakness. Pain, weakness, numbness, and a tingling, prickling or burning sensation can occur in the legs of patients with this disorder. Many people with Dejerine-Sottas Disease can remain active and usually have a normal life span. Symptoms Dejerine-Sottas Disease tends to begin suddenly, usually between ten and thirty years of age. Tingling, prickling or burning sensations are usually the initial symptoms. Weakness is commonly first noticed in the muscles of the back of the leg. This then spreads to the front leg muscles. Pain, loss of heat sensitivity, absence of reflexes and atrophy of leg muscles are symptoms of Dejerine-Sottas Disease. Patients may eventually develop difficulty in walking. The hand and forearm muscles may become weak in later stages. Mild vision difficulties may also occur. Causes Dejerine-Sottas Disease is inherited as a dominant trait. A recurrent loss of myelin (the protective sheath surrounding nerves) causes this disorder. Scientists do not yet know why the myelin disappears. (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 Dejerine-Sottas Disease usually begins between ten and thirty years of age. This disorder is thought to affect males and females in equal numbers. Related Disorders Charcot-Marie-Tooth Disease, or Peroneal Muscular Atrophy involves a chronic degeneration (breakdown) of the nerves. Nerves that supply the feet and legs and sometimes the hands are affected. (For more information, choose "CMT" as your search term in the Rare Disease Database). Hereditary Sensory Radicular Neuropathy is a dominant hereditary disorder characterized initially by pain and loss of thermal sensation in the foot and lower leg. Later, attacks of sharp pain throughout the body may occur with muscle weakness and ulcers on toes. Therapies: Standard Treatment of Dejerine-Sottas Disease is symptomatic and supportive. Orthopedic surgery or foot bracing can often be of value to correct or stabilize joints involved with walking. Organizations offering assistance to individuals with vision or mobility deficits and their families can be helpful. Genetic counseling may also be of benefit to families and people with Dejerine-Sottas Disease. Therapies: Investigational This disease entry is based upon medical information available through January 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 Dejerine-Sottas Disease, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Muscular Dystrophy Association, National Office 3300 E. Sunrise Dr. Tucson, AZ 85718 (602) 529-2000 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 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 ABNORMAL AUDITORY EVOKED POTENTIALS IN DEJERINE-SOTTAS DISEASE. REPORT OF TWO CASES WITH CENTRAL ACOUSTIC AND VESTIBULAR IMPAIRMENT: F. Baiocco, et. al.; J Neurol (1984, issue 231(1)). Pp. 46-49. LIPID ABNORMALITIES IN HEREDITARY NEUROPATHY. PART 4. ENDONEURIAL AND LIVER LIPIDS OF HMSN-III (DEJERINE-SOTTAS DISEASE): J.K. Yao, et. al.; J Neurol Sci (Nov.-Dec. 1981, issue 52(2-3)). Pp. 179-190. THE IMPORTANCE OF QUANTITATIVE ELECTRON MICROSCOPY IN STUDYING HYPERTROPHIC NEUROPATHIES. A COMPARISON BETWEEN A CASE OF DEJERINE SOTTAS DISEASE (HMSN III) AND A CASE OF THE HYPERTROPHIC FORM OF CHARCOT-MARIE-TOOTH DISEASE (HMSN I): G. Tredici, et. al.; Int J Tissue React (1984, issue 6(3)). Pp. 267-274.