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$Unique_ID{BRK04198}
$Pretitle{}
$Title{Roussy-Levy Syndrome}
$Subject{Roussy-Levy Syndrome Charcot-Marie-Tooth-Roussy-Levy Disease
Charcot-Marie-Tooth Disease Variant Hereditary Motor Sensory Neuropathy HMSN I
Hereditary Areflexic Dysstasia Hereditary Motor Sensory Neuropathy I
Charcot-Marie-Tooth Disease Dejerine-Sottas Disease Hereditary Sensory
Radicular Neuropathy Refsum Syndrome Friedreich's Ataxia }
$Volume{}
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Copyright (C) 1991 National Organization for Rare Disorders, Inc.

785:
Roussy-Levy Syndrome

** IMPORTANT **
It is possible that the main title of the article (Roussy-Levy Syndrome)
is not the name you expected.  Please check the SYNONYM listing to find the
alternate names and disorder subdivisions covered by this article.

Synonyms

     Charcot-Marie-Tooth-Roussy-Levy Disease
     Charcot-Marie-Tooth Disease (Variant)
     Hereditary Motor Sensory Neuropathy
     HMSN I
     Hereditary Areflexic Dysstasia
     Hereditary Motor Sensory Neuropathy I

Information on the following diseases can be found in the Related
Disorders section of this report:

     Charcot-Marie-Tooth Disease
     Dejerine-Sottas Disease
     Hereditary Sensory Radicular Neuropathy
     Refsum Syndrome
     Friedreich's Ataxia

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.

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.

Symptoms

Symptoms of Roussy-Levy Syndrome are similar to other hereditary motor
sensory neuropathies in that there is weakness and atrophy of the leg muscles
with some loss of feeling.  People with this syndrome have difficulty walking
and a lack of reflexes and deformity of the foot or feet (pes cavus).
Roussy-Levy differs, however, from other hereditary motor sensory
neuropathies because of the very early onset of the disorder during childhood
and it's slowly progressive course.  Roussy-Levy also has as one of it's
characteristics a slight tremor in the hands.  Even though the disorder
begins in early childhood it may or may not cause disability.

Causes

Roussy-Levy is inherited through autosomal dominant genetic transmission.
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.

Affected Population

Roussy-Levy is a rare disorder that affects both sexes in equal numbers.
Onset is during early childhood.

Related Disorders

Symptoms of the following disorders can be similar to those of Roussy-Levy
Syndrome.  Comparisons may be useful for a differential diagnosis:

Charcot-Marie-Tooth Disease is an hereditary neurological disorder.  It
is characterized by weakness and atrophy of the legs and disappearance of the
fatty shield surrounding the nerves.  The most incapacitating initial symptom
is "foot drop".  The disorder has a gradual progression usually beginning in
middle childhood through age 30.  Symptoms of CMT may arrest spontaneously or
it may continue to progress slowly.  Patients may remain active for years.
(For more information on this disorder, choose "Charcot-Marie-Tooth" as your
search term in the Rare Disease Database).

Dejerine-Sottas Disease is a hereditary neurological disorder which
progressively affects mobility.  It 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 legs.  This then spreads to the front leg muscles.
Pain, loss of heat sensitivity, absence of reflexes and atrophy of leg
muscles are further symptoms of Dejerine-Sottas Disease.  (For more
information on this disorder, choose "Dejerine-Sottas" 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 heat sensation in the feet and
lower legs.  Later the patient may have attacks of sharp pains throughout the
body and weakness in the legs along with ulcers of the feet.  (For more
information on this disorder, choose "Hereditary Sensory Radicular
Neuropathy" as your search term in the Rare Disease Database.)

Refsum Syndrome is a rare recessive hereditary disorder of fat metabolism
which is characterized by peripheral neuropathy, impaired muscle coordination
(ataxia), eye problems, deafness, and bone and skin changes.  It is
associated with marked accumulation of phytanic acid in the blood plasma and
tissues.  The disorder may be due to the absence of phytanic acid
hydroxylase, an enzyme needed for the metabolism of phytanic acid.  (For more
information on this disorder, choose "Refsum Syndrome" as your search term in
the Rare Disease Database).

Friedreich's Ataxia is a hereditary syndrome characterized by slow
degenerative changes of the spinal cord and the brain.  Dysfunction of the
central nervous system affects coordination of the muscles in the limbs.
Speech can be affected and numbness or weakness of the arms and legs
develops.  This syndrome is the most common of the many different forms of
hereditary ataxia and usually begins in childhood or during teenage years.
It produces an unsteady gait, staggering, and lurching or trembling when
standing or walking.  In time tremors may occur in the hands or arms.  (For
more information on this disorder, choose "Friedreich's Ataxia" as your
search term in the Rare Disease Database).

Therapies:  Standard

Treatment of Roussy-Levy Syndrome may include use of braces for the foot
deformity or orthopedic surgery on the feet to correct the imbalance of the
affected muscles.  Genetic counseling may be of benefit to patients and their
families.  Other treatment is symptomatic and supportive.

Therapies:  Investigational

Research is ongoing into possible new therapies for the hereditary motor
sensory neuropathy disorders.  For the most current information, please
contact the agencies listed in the Resource section of this report.

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 Roussy-Levy Syndrome, please contact:

     National Organization for Rare Disorders (NORD)
     P.O. Box 8923
     New Fairfield, CT  06812-1783
     [phone]

     NIH/National Institute of Neurological Disorders & Stroke (NINDS)
     9000 Rockville Pike
     Bethesda, MD  20892
     [phone]
     [phone]

     Charcot-Marie-Tooth Association
     Crozer Mills Enterprise Center
     601 Upland Ave.
     Upland, PA 19105
     [phone]

     Charcot-Marie-Tooth International
     34-B Bayview Drive
     St. Catherines, Ontario
     Canada  L2N 4Y6

     International Tremor Foundation
     360 W. Superior St.
     Chicago, IL  60610
     [phone]

For Genetic Information and genetic counseling referrals:

     March of Dimes Birth Defects Foundation
     1275 Mamaroneck Avenue
     White Plains, NY  10605
     [phone]

     Alliance of Genetic Support Groups
     35 Wisconsin Circle, Suite 440
     Chevy Chase, MD  20815
     (800) 336-GENE
     [phone]

References

MENDELIAN INHERITANCE IN MAN, 8th ed.:  Victor A. McKusick; Johns Hopkins
University Press, 1989.  Pp.666.

MORPHOLOGICAL STUDIES OF PERIPHERAL NERVES FOR A BETTER UNDERSTANDING OF
CHARCOT-MARIE-TOOTH ATROPHY AND ROUSSY-LEVY HEREDITARY AREFLEXIC DYSSTASIA.
J Lapresal, Ann Med Interne (1980, issue 131 (7)).  Pp. 397-400.

PROGRESSIVE ATAXIA AND DISTAL MUSCULAR ATROPHY--DIFFERENTIAL DIAGNOSTIC
CONSIDERATIONS ON ROUSSY-LEVY SYNDROME., F. Aksu, et al;, Klin Padiatr
(March-April 1986, issue 198 (2) ).  Pp. 114-118.

ROUSSY-LEVY HEREDITARY AREFLEXIC DYSSTASIA.  ITS HISTORICAL RELATION TO
FRIEDREICH'S DISEASE, CHARCOT-MARIE-TOOTH ATROPHY AND DEJERINE-SOTTAS
HYPERTROPHIC NEURITIS; THE PRESENT STATUS OF THE ORIGINAL FAMILY; THE
NOSOLOGIC ROLE OF THIS ENTITY., J. Lapresle, Rev Neurol (1982, issue 138
(12)).  Pp. 967-978.

TREATMENT OF SEVERE CONCAVE CLUBFOOT IN NEURAL MUSCULAR ATROPHY., G.
Imhauser, Z Orthop, (November-December, 1984, issue 122 (6)).  Pp. 827-834.