$Unique_ID{BRK04046} $Pretitle{} $Title{Neuropathy, Hereditary Sensory, Type I} $Subject{Neuropathy Hereditary Sensory Type I Hereditary Sensory Neuropathy Type I HSN-I Hereditary Sensory and Autonomic Neuropathy Type I HSAN-I Sensory Neuropathy Hereditary Type I Sensory Radicular Neuropathy Radicular Neuropathy Sensory Hereditary Sensory Radicular Neuropathy Mutilating Acropathy Acrodystrophic Neuropathy Charcot-Marie-Tooth Disease Hereditary Sensory Neuropathy Type II Peripheral Neuropathy Syringomyelia Roussy-Levy Syndrome } $Volume{} $Log{} Copyright (C) 1991 National Organization for Rare Disorders, Inc. 799: Neuropathy, Hereditary Sensory, Type I ** IMPORTANT ** It is possible that the main title of the article (Neuropathy, Hereditary Sensory, Type I) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Hereditary Sensory Neuropathy Type I; HSN-I Hereditary Sensory and Autonomic Neuropathy Type I; HSAN-I Sensory Neuropathy, Hereditary, Type I Sensory Radicular Neuropathy Radicular Neuropathy, Sensory Hereditary Sensory Radicular Neuropathy Mutilating Acropathy Acrodystrophic Neuropathy Information on the following disorders can be found in the Related Disorders section of this report: Charcot-Marie-Tooth Disease Hereditary Sensory Neuropathy Type II Peripheral Neuropathy Syringomyelia Roussy-Levy Syndrome 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. Hereditary Sensory Neuropathy Type I is a rare genetic disorder. Major symptoms include a loss of sensation usually affecting the feet and legs more severely than the hands and forearms, and perforating ulcers (open sores) on the feet. The loss of sensation is caused by abnormal functioning of the autonomic nervous system, which controls responses to pain and temperature as well as other involuntary or automatic body processes. Symptoms Major symptoms of Hereditary Sensory Neuropathy Type I include loss of sensation usually affecting the feet and legs more severely than the hands and forearms. Pain and temperature sensations are affected more than touch- pressure sensation. Some patients experience piercing or stabbing sensations (lancinating pains). As the disorder progresses the feet may develop perforating ulcers (open sores), especially if patients take poor care of their feet. Reflexes in the legs are decreased or absent. Deafness occasionally occurs. Causes Hereditary Sensory Neuropathy Type I is inherited as an autosomal dominant genetic disorder. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, 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 other normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is fifty percent for each pregnancy regardless of the sex of the resulting child. Symptoms of Hereditary Sensory Neuropathy Type I are caused by degeneration of nerve fibers. Diagnosis can be made by biopsy. Affected Population Hereditary Sensory Neuropathy Type I is a rare disorder present at birth affecting males and females in equal numbers. Symptoms usually develop in early adulthood, or occasionally during childhood. Related Disorders Symptoms of the following disorders can be similar to those of Hereditary Sensory Neuropathy Type I. Comparisons may be useful for a differential diagnosis: Charcot-Marie-Tooth Disease is a rare hereditary neurological disorder characterized by muscle atrophy and weakness most prominent in the legs and the small muscles of the hands. A decrease in vibration, pain, and thermal sensation in the hand, foot, and lower part of the leg may occur. Stretch reflexes are usually absent. (For more information on this disorder, choose "Charcot-Marie-Tooth Disease" as your search term in the Rare Disease Database). Hereditary Sensory Neuropathy Type II is a rare genetic disorder characterized by inflammation of the fingers or toes especially around the nails, usually accompanied by pus and infection (paronychia, whitlows) and by ulcers (open sores) of the fingers and on the soles of the feet. Other symptoms are loss of sensation affecting the skin, and sometimes the muscles, tendons, or joints (kinesthetic sensation). Loss of sensation is noticeable in both arms and legs, rather than primarily in the legs as in Hereditary Sensory Neuropathy Type I. (For more information on this disorder, choose "Hereditary Sensory Neuropathy Type II" as your search term in the Rare Disease Database). The symptoms of Peripheral Neuropathy are produced by disease of a single nerve (mononeuropathy, mononeuritis), several nerves in asymmetric areas of the body (mononeuritis multiplex), or many nerves simultaneously (polyneuropathy, polyneuritis, multiple peripheral neuritis). These symptoms may involve sensory, motor, reflex, or blood vessel (vasomotor) function. (For more information on these disorders, choose "neuropathy" as your search term in the Rare Disease Database). Syringomyelia is a rare neurological disorder characterized by a fluid- filled cavity (syrinx) within the spinal cord. Patients with Syringomyelia in the upper (cervical and thoracic) part of the spinal cord may first notice loss of feeling for pain and temperature in their fingers, hands, arms, and upper chest. In the early stages, a sense of touch is still present. A loss of feeling may spread over the shoulders and back. Chronic progressive degeneration of the stress-bearing part of a bone joint (Charcot joint) is another symptom. Reflexes in the upper extremities may be absent. When the lumbar and sacral segments of the spine are affected, spasticity, muscle weakness, and muscular incoordination in the lower extremities as well as paralysis of the bladder usually occur. Morvan disease is a severe form of Syringomyelia accompanied by ulceration of fingers and toes. (For more information on this disorder, choose "Syringomyelia" as your search term in the Rare Disease Database). Roussy-Levy Syndrome is a rare genetic motor sensory disorder. Major symptoms may include a foot deformity (claw foot), muscle weakness, atrophy of the leg muscles and tremor in the hands. (For more information on this disorder, choose "Roussy-Levy" as your search term in the Rare Disease Database). Therapies: Standard Treatment of Hereditary Sensory Neuropathy Type I is symptomatic and supportive. Genetic counseling may be of benefit for patients and their families. Therapies: Investigational This disease entry is based upon medical information available through June 1991. 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 Hereditary Sensory Neuropathy Type I, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 For genetic information and genetic counseling referrals: 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 CECIL TEXTBOOK OF MEDICINE, 18th Ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Editors; W.B. Saunders Co., 1988. Pp. 2264-2265. MENDELIAN INHERITANCE IN MAN, 8th Ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. Pp. 527. PERSISTENT SKIN ULCERS, MUTILATIONS, AND ACRO-OSTEOLYSIS IN HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY WITH PHOSPHOLIPID EXCRETION. REPORT OF A FAMILY. M. Bockers, et al.; J Am Acad Dermatol (Oct 1989; issue 21 (4 Pt 1)). Pp. 736-739.