CD-ROM Today (UK) (Spanish) 15/CDRT.iso/dp/0350/03505.txt

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$Unique_ID{BRK03505}
$Pretitle{}
$Title{Ataxia, Marie's}
$Subject{Ataxia, Marie's Pierre-Marie's Disease Hereditary Cerebellar Ataxia
Nonne's Syndrome Cerebellar Syndrome Friedreich's Ataxia Charcot-Marie-Tooth
Disease, also known as CMT Disease Ataxia Telangiectasia Olivopontocerebellar
Atrophy}
$Volume{}
$Log{}

Copyright (C) 1987, 1988, 1990 National Organization for Rare Disorders,
Inc.

403:
Ataxia, Marie's

** IMPORTANT **
It is possible the main title of the article (Marie's Ataxia) is not the
name you expected.  Please check the SYNONYMS listing on the next page to
find alternate names, disorder subdivisions, and related disorders covered by
this article.

Synonyms

     Pierre-Marie's Disease
     Hereditary Cerebellar Ataxia
     Nonne's Syndrome
     Cerebellar Syndrome

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

     Friedreich's Ataxia
     Charcot-Marie-Tooth Disease, also known as CMT Disease
     Ataxia Telangiectasia
     Olivopontocerebellar Atrophy

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.


Marie's Ataxia is an inherited disorder of impaired muscle coordination
usually beginning during young adulthood or middle age.  This hereditary form
of ataxia is characterized by unsteady walking.  Nerve degeneration and
muscle atrophy in the legs, head and neck area and arms may occur.  Cases
that begin later in life may be mild with symptoms that can often be treated
successfully.

Symptoms

Marie's Ataxia is often first noticed because of unsteadiness walking down
stairs, ramps or on uneven ground.  Falling down tends to become a hazard as
the disease progresses.  Coordination of the arms may become impaired and
tremors sometimes occur.  When muscles of the head and neck are affected, a
patient's speech may become hard to understand.  Swallowing and clearing of
secretions (as from the lungs) can become difficult.  Muscle weakness around
the eyes (extraocular) and in the facial muscles, atrophy of the tongue, and
a weak cough may also be present.  Choking is a major concern for people
affected by this form of ataxia.  Pneumonia can develop in some cases as a
complication.

Symptoms not usually associated with some other types of ataxia such as
reflex abnormalities, widespread muscle weakness with atrophy, involuntary
muscle contractions and in some cases, altered pain and/or touch perceptions
can occur.  Bladder control and sexual function are usually not affected.
Vision abnormalities may develop late in the course of Marie's Ataxia.  Some
mental deterioration, rapid involuntary movements (chorea) and/or slow
writhing movements of the hands (athetosis) have been seen in advanced cases.

Causes

Marie's Ataxia is inherited as a dominant trait.  Symptoms may be caused by
atrophy of the cerebellum and areas of the spinal cord.  (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

There are approximately 7,000 known cases of Marie's Ataxia in the United
States.  Some researchers believe the total may be higher.

Related Disorders

Ataxia results in walking with an unsteady gait caused by the failure of
muscular coordination or irregularity of muscular action.  There are many
forms of ataxia.  Some ataxias are hereditary, some have other causes and
sometimes ataxia can be a symptom of other disorders.  To locate information
about other types of ataxias choose "Ataxia" as your search term on the Rare
Disease Database.

Symptoms of the following disorders can be similar to Marie's Ataxia.
Comparisons may be useful for a differential diagnosis:

Friedreich's Ataxia is a hereditary neuromuscular 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
may develop.  Various transitional and overlapping forms of Friedreich's
Ataxia can occur.  Although no specific treatment can stop the progression of
this disorder, some symptoms can be alleviated with proper treatment.  In a
few cases, spontaneous remissions may occur which can last five to ten years
or sometimes longer.  This syndrome appears to be the most common of the many
different forms of the hereditary ataxias and usually begins during childhood
or the teen years.   (For more information on Friedreich's Ataxia, choose
"Friedreich's Ataxia" as your search term in the Rare Disease Database).

Charcot-Marie-Tooth (CMT) Disease is a hereditary neurological disorder
characterized by weakness and atrophy, primarily in the legs.  Disappearance
of the fatty shield surrounding the nerves (segmental demyelination of
peripheral nerves), and associated degeneration of part of the nerve cells
(axons) characterize this disorder.  (For more information on Charcot-Marie-
Tooth Disease, choose "CMT" as your search term in the Rare Disease
Database).

Ataxia Telangiectasia, also known as Louis-Bar Syndrome, is an inherited
progressive cerebellar ataxia that usually begins during infancy.  It
involves progressive loss of coordination in limbs, head and eyes with a
below-normal immune response to infections.  In later stages, dilated blood
vessels (telangiectasias) appear in the eyes and skin.  Individuals with this
form of ataxia are more susceptible to sinus and lung infections and tend to
have tumors (neoplasia).  Ataxia Telangiectasia may be misdiagnosed as
Friedreich's Ataxia until telangiectasias appear.  (For more information on
Ataxia Telangiectasia, choose "Ataxia Telangiectasia " as your search term in
the Rare Disease Database).

Olivopontocerebellar Atrophy (OPCA) is a group of inherited forms of
ataxia characterized by degeneration of the olivopontocerebellar area of the
brain.  These include Menzel type 1, Fickler-Winkler type 2, retinal
degeneration type 3, Schut-Haymaker type 4, and Ophthalmoplegia (paralysis of
facial and eye muscles) type 5 OPCA.  As in other forms of Ataxia,
progressive muscular and skeletal symptoms can occur in different
combinations and degrees of severity.  Complications such as vision and
hearing difficulties with mental deterioration may also occur.  (For more
information on Olivopontocerebellar Atrophy, choose "Olivopontocerebellar" as
your search term in the Rare Disease Database).

Therapies:  Standard

Treatment of Marie's Ataxia is directed at controlling symptoms.  The drug
propranolol can be effective for control of some tremors.  Dantrolene sodium
may be of limited help for patients with leg muscle spasms.  However,
possible side effects of these drugs require strict monitoring by a doctor.
Pneumonia may be prevented in some cases by using proper eating precautions,
postural drainage (the head is lower than the rest of the body) and careful
use of antibiotics.  Foods which could trigger choking spells should be
avoided.  Physical therapy and encouraging a patient to continue walking
daily as long as possible can be helpful in cases with slowly progressive
muscle atrophy.  Vision problems may be treated with corrective lenses, drugs
or surgery.  Other treatment is symptomatic and supportive.

Therapies:  Investigational

Research on Marie's Ataxia is ongoing.  Experimental drugs, analysis of cell
cultures and central nervous system tissues are being studied.
Identification of the gene that causes this syndrome is also being pursued.

The multiprogrammable spinal cord stimulator involves epidural spinal
electrostimulation (ESES).  This is a medical device under evaluation for
control of motor dysfunction which is associated with bladder control.  This
device can be surgically implanted in the spine and may be of therapeutic
benefit to patients with some types of Ataxia as well as other neuromuscular
disorders.  The procedure is being tried on an experimental basis in cases
when conservative measures have proven ineffectual.  The goal is to increase
the range of mobility and alleviate muscle spasms (spasticity) and pain.  For
further information on ESES devices, please contact:

     Food and Drug Administration
     Office for Orphan Product Development
     HF-35 FDA Rm. 12-11
     5600 Fishers Lane
     Rockville, MD 20857
     [phone]

A controlled study of ESES devices is being conducted by:

     Neuromed
     5000 Oakes Rd.
     Ft. Lauderdale, Florida 33314
     [phone].

Clinical trials of the orphan drug physostigmine salicylate (Antilirium)
for treatment of Marie's Ataxia and other inherited forms of ataxia are
underway.  For additional information, physicians can contact:

     Forrest Pharmaceuticals
     2510 Metro Blvd.
     Maryland Heights, MO  64043-00

For information on additional therapies that have been designated as
Orphan Drugs in the last few months, please return to the main menu of NORD
Services and access the Orphan Drug Database.

This disease entry is based upon medical information available through
March 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 Marie's Ataxia, please contact:

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

     National Ataxia Foundation
     750 Twelve Oaks Center
     15500 Wayzata Blvd.
     Wayzata, MN  55391
     [phone]

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

The following organization provides clinical services for people with
Ataxia including the provision of orthopedic aids, recreation at summer and
winter camps, and transportation assistance:

     Muscular Dystrophy Association, National Office
     3300 E. Sunrise Dr.
     Tucson, AZ  85718
     [phone]

For information on genetics and genetic counseling referrals, please
contact:

     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

SPINOCEREBELLAR ATAXIA ASSOCIATED WITH LOCALIZED AMYOTROPHY OF THE HANDS,
SENSORINEURAL DEAFNESS AND SPASTIC PARAPARESIS IN TWO BROTHERS:  F.
Gemignani; J Neurogenet (March 1986, issue 3(2)).  Pp. 125-133.

TREATMENT OF PATIENTS WITH DEGENERATIVE DISEASES OF THE CENTRAL NERVOUS
SYSTEM BY ELECTRICAL STIMULATION OF THE SPINAL CORD:  D.M. Dooley, et al.;
Confin Neurol (1981, issue 44(1-3)).  Pp. 71-76.

OTONEUROLOGIC SYMPTOMATOLOGY IN HEREDITARY CEREBELLAR ATAXIA (PIERRE
MARIE DISEASE):  IIa Kalinovskaia, et al.; Zh Nevropatol Psikhiatr (1980,
issue 80(3)).  Pp. 367-372.