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$Unique_ID{BRK03504}
$Pretitle{}
$Title{Ataxia, Hereditary}
$Subject{Ataxia, Hereditary Progressive Cerebellar Ataxia Friedreich's Ataxia
Marie's Ataxia Ataxia Telangiectasia Vasomotor Ataxia Vestibulocerebellar
Ataxiadynamia Ataxiophemia Olivopontocerebellar Atrophy Charcot-Marie-Tooth
Disease}
$Volume{}
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Copyright (C) 1989 National Organization for Rare Disorders, Inc.

674:
Ataxia, Hereditary

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

Synonyms

     Progressive Cerebellar Ataxia

Disorder Subdivisions:

     Friedreich's Ataxia
     Marie's Ataxia
     Ataxia Telangiectasia
     Vasomotor Ataxia
     Vestibulocerebellar
     Ataxiadynamia
     Ataxiophemia
     Olivopontocerebellar Atrophy
     Charcot-Marie-Tooth Disease

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 Ataxia is a group of rare genetic neuromuscular disorders.  It
is characterized by degenerative changes in the brain and spinal cord.  It
can affect a person anytime between infancy through adulthood.  Major
symptoms include lack of coordination of the muscles used for voluntary
movement.

Symptoms

The Ataxia's are progressive neuromuscular disorders characterized by
unsteadiness in walking or tremors of the arms and legs.  Depending on which
part of the brain is affected there may be muscle weakness and wasting which
usually occurs when the lower motor neurons are affected.  Some types of
Ataxia may be complicated by vision disorders such as optic atrophy,
retinitis pigmentosa, ophthalmaplegia (face and eye paralysis), nerve
deafness or mental deterioration.  There may also be skeletal changes such as
scoliosis (bent spine) and deformities of the feet.  Other medical problems
may occur in relation to Ataxia such as heart disease, breathing problems,
bone abnormalities and diabetes.
Disorder Subdivisions:

Olivopontocerebellar Atrophy is a group of inherited forms of Ataxia
characterized by progressive neurological degeneration affecting the
olivopontocerebellar area of the brain.  These inherited forms include Menzel
type I, Fickler-Winkler type II, retinal degeneration type III, Schut-
Haymaker type IV, and ophthalmoplegia (paralysis of facial and eye muscles)
type V OPCA.

Olivopontocerebellar Atrophy I (Menzel type OPCA) is inherited as a
dominant trait and usually begins in the third or fourth decades of life,
with an average onset at thirty years of age.  In addition to cerebellar
degeneration, other areas of the body become affected with speech
abnormalities and/or tremors of the limbs.  Involuntary movements (chorea)
may also occur.

Olivopontocerebellar Atrophy II (OPCA II, Fickler-Winkler or deJerine-
Thomas type) is inherited as a recessive trait and differs from OPCA type I
by showing a lack of involuntary movements.  Onset of this disorder usually
begins at approximately fifty years of age.  The exact nature of this form of
cerebellar atrophy is not well understood.

Olivopontocerebellar Atrophy III (OPCA III, OPCA with retinal
degeneration) is characterized by sight impairment, blindness, tremor,
weakness and impaired muscle coordination.  It is inherited through a
dominant gene.  This form of OPCA usually begins during middle age.

Olivopontocerebellar Atrophy IV (OPCA IV, Schut-Haymaker type OPCA) is
inherited as a dominant trait and is characterized by a form of paralysis
(spastic paraplegia).  The atrophy seems to be limited to the inferior
olivary nucleus and cerebellum with varying involvement of the pons area of
the brain.  Abnormalities of the spinal cord and some of the cranial nerves
may also occur.  Symptoms usually begin at approximately twenty-five years of
age.

Olivopontocerebellar Atrophy V (OPCA V, OPCA with dementia and
extrapyramidal signs) is characterized by cerebellar atrophy, tremors,
ataxia, abnormal sensations, rigidity and mental deterioration.  This
disorder is inherited as a dominant trait and usually begins during adult
life.  Walking, writing and speech often become difficult as the disorder
progresses.  (For more information on these disorders, choose
"Olivopontocerebellar" as your search term in the Rare Disease Database).

Charcot-Marie-Tooth Disease (also known CMT Disease and Peroneal Muscular
Atrophy) is usually inherited as a dominant trait.  However, in some families
it can occur as a recessive trait or even as an X-linked trait.  This
hereditary form of ataxia is 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.  When it is
passed to offspring as an X-linked trait it affects only males.  (For more
information on this disorder, choose "CMT" as your search term in the Rare
Disease Database).

Friedreich's Ataxia is a recessive type of 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 develop.  Various transitional and overlapping forms of
Friedreich's Ataxia can occur.  Although no specific treatment can stop the
progression of the 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 forms of hereditary Ataxia.  It usually begins during
childhood or the teen years.  (For more information on this disorder, choose
"Friedreich" as your search term in the Rare Disease Database).

Marie's Ataxia is a neuromuscular syndrome inherited as a dominant trait.
Also known as Pierre Marie's Disease or Hereditary Cerebellar Ataxia, it is
characterized by a later onset of neurological and coordination disturbances.
The syndrome usually begins between thirty and forty years of age and may not
be as disabling as Friedreich's Ataxia.  Initially, those affected may walk
unsteadily and tend to fall frequently.  Loss of coordination in the arms and
speech disturbances may also occur.  In later stages slight loss of vision,
and loss of pain or touch sensations, may also occur.  Tremors may develop
when conscious motion is attempted.  Swallowing and clearing of secretions
may eventually become difficult if the throat muscles are affected.  (For
more information on this disorder, choose "Marie" as your search term in the
Rare Disease Database).

Ataxia Telangiectasia, also known as Louis-Bar Syndrome, is inherited as
a recessive trait.  It is a progressive cerebellar ataxia that usually begins
during infancy.  It involves progressive loss of coordination in the 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 (neoplasms).  Ataxia Telangiectasia may be
misdiagnosed as Friedreich Ataxia until dilated blood vessels appear in the
skin (telangiectasias).  (For more information on this disorder, choose
"Telangiectasia" as your search term in the Rare Disease Database).

Vasomotor Ataxia is a dominant form of autonomic ataxia causing an
unsteady walk and irregularity in the circulation marked by flushing and
blanching of the skin due to spasms of the smaller blood vessels.

Vestibulocerebellar Ataxia is inherited as a dominant trait.  It is due
to disease of the central vestibular system or it's cerebellar components.
Characterized by unsteady gait, incoordination of arm and leg movements and
constant movement of the eyeballs (nystagmus).

Ataxiadynamia is a lack of coordination combined with muscular weakness.
It is usually inherited as a dominant trait.

Ataxiophemia is inherited as a dominant trait.  It is characterized by
incoordination of the muscles concerned in speech production.

Causes

Some forms of hereditary Ataxia are inherited as a dominant trait.  In other
forms it may be passed to offspring through recessive genes.

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.

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.

Some forms of Ataxia are not hereditary and can occur as a result of
severe infections or side effects of drugs.  In many cases Ataxia is a
symptom of another neurological disorder rather than a distinct and separate
illness.  To locate information about other disorders which have ataxia as a
symptom, choose "Ataxia" as your search term on the Rate Disease Database.

Affected Population

Hereditary Ataxia's affect males and females in equal numbers.


Therapies:  Standard

Treatment of Ataxia is symptomatic and supportive.  Continuous medical
supervision to avoid potential complications involving the heart, lungs,
spine, bones and muscles is recommended.  Mental functions usually remain
unaffected in most forms of hereditary ataxia but emotional strain can affect
patients and their families.  In such cases, psychological counseling may be
helpful.  Physical therapy may be helpful when recommended by a physician.
Various aids may assist muscular movement.  Drugs may be useful in treating
some symptoms of Ataxia.  Propanalol may be effective against static tremors,
and less often against intention tremors.  Dantrolene Sodium may help some
patients with muscle spasms of the legs.  Genetic counseling will be of
benefit for patients and families affected by the hereditary ataxias.

Therapies:  Investigational

The multiprogrammable spinal cord stimulator involves epidural spinal
electrostimulation (ESES).  This is a medical device being tested for
neuromuscular disorders.  The device must be surgically implanted.  The goal
is to increase the range of mobility and alleviate muscle spasms and pain.  A
controlled study of ESES devices is being conducted by:

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

Clinical trials of the orphan drug physostigmine salicylate (Antilirium)
for treatment of inherited forms of Ataxia are underway.  For additional
information physicians can contact:

     Forrest Pharmaceuticals
     2510 Metro Boulevard
     Maryland Heights, MO 64043-99

This disease entry is based upon medical information available through
June 1989.  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 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 55390
     [phone]

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

     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, 1986.  Pp. 84.

INTERNAL MEDICINE, 2nd Ed.:  Jay H. Stein, ed.-in-chief; Little, Brown
and Co., 1987.  Pp.2160.

SPINOCEREBELLAR ATAXIA:  LOCALIZATION OF AN AUTOSOMAL DOMINANT LOCUS
BETWEEN TWO MARKER ON HUMAN CHROMOSOME 6;  S.S. Rich, et al.; Am J Hum Genet,
(October, 1987, issue 41 (4)).  Pp. 524-531.

BRAIN CHOLINE ACETYLTRANSFERASE REDUCTION IN DOMINANTLY INHERITED
OLIVOPONTOCEREBELLAR ATROPHY;  J.J. Kish, et al.; Ann Neurol (August, 1987,
issue 22 (2)).  Pp. 272-275.