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$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.