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$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.