$Unique_ID{BRK04047} $Pretitle{} $Title{Neuropathy, Hereditary Sensory, Type II} $Subject{Neuropathy Hereditary Sensory Type II Congenital Sensory Neuropathy Hereditary Sensory Neuropathy Type II HSN-II Hereditary Sensory and Autonomic Neuropathy Type II HSAN-II Hereditary Sensory Radicular Neuropathy Recessive Form Sensory Neuropathy Hereditary Type II Sensory Radicular Neuropathy Recessive Form Radicular Neuropathy Sensory Recessive Form Charcot-Marie-Tooth Disease Hereditary Sensory Neuropathy Type I Peripheral Neuropathy Syringomyelia Roussy-Levy Syndrome } $Volume{} $Log{} Copyright (C) 1991 National Organization for Rare Disorders, Inc. 798: Neuropathy, Hereditary Sensory, Type II ** IMPORTANT ** It is possible that the main title of the article (Neuropathy, Hereditary Sensory, Type II) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Congenital Sensory Neuropathy Hereditary Sensory Neuropathy Type II; HSN-II Hereditary Sensory and Autonomic Neuropathy Type II; HSAN-II Hereditary Sensory Radicular Neuropathy, Recessive Form Sensory Neuropathy, Hereditary, Type II Sensory Radicular Neuropathy, Recessive Form Radicular Neuropathy, Sensory, Recessive Form Information on the following disorders can be found in the Related Disorders section of this report: Charcot-Marie-Tooth Disease Hereditary Sensory Neuropathy Type I 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 II is a rare genetic disorder that usually begins in childhood. Major symptoms include inflammation of the fingers or toes especially around the nails, usually accompanied by pus and infection (paronychia, whitlows), ulcers (open sores) of the fingers and on the soles of the feet, and a loss of sensation noticeable in both arms and legs. Symptoms Hereditary Sensory Neuropathy Type II is 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 feeling in both the arms and legs may cause unsteady movement. In some cases, fractures of the limbs may occur without the patient's awareness. Patients usually have no tendon reflexes. Sweating may be impaired. Some patients with ulcers of the fingers or toes may develop bone complications such as osteomyelitis, or osteolysis. Left untreated, this may lead to loss of the affected finger or toe. Causes Hereditary Sensory Neuropathy Type II is inherited as an autosomal recessive 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 recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent, and will be genetically normal. Symptoms of Hereditary Sensory Neuropathy Type II are caused by degeneration of nerve fibers. Diagnosis can be made by biopsy. Affected Population Hereditary Sensory Neuropathy Type II is a rare disorder present at birth that affects males and females in equal numbers. Symptoms usually develop during infancy or childhood. Related Disorders Symptoms of the following disorders can be similar to those of Hereditary Sensory Neuropathy Type II. 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 I is a rare genetic disorder characterized by a loss of sensation usually affecting the feet and legs more severely than the hands and forearms, and by perforating ulcers (open sores) on the feet. Pain and temperature sensations are affected more than touch- pressure sensation. (For more information on this disorder, choose "Hereditary Sensory Neuropathy Type I" 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 II 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 II, 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. PAUCIFASCICULAR CONGENITAL SENSORY NEUROPATHY IN IDENTICAL TWINS. G.B. Croall, et al., Am J Dis Child (June 1986; issue 140 (6)). Pp. 589-595. 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.