Title:       Friedreich's ataxia. (Fact Sheet) (pamphlet)
Citation:    Pamphlet by: Nat'l. Inst. of Neurological &
             Communicative Disorders and Stroke, April 1982
             p1(3)

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Subjects:    Genetic disorders_Prognosis
             Pamphlets, Health
             Central nervous system_Diseases
             Friedreich's ataxia_Diagnosis
             Neurology_Research

Reference #: A9049432

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Full Text COPYRIGHT National Institute of Neurological and
Communicative Di 1982

What is Friedreich's ataxia?

Friedreich's ataxia is an inherited disease of the central
nervous system first identified in the early 1860's by
Nikolaus Friedreich of Heidelberg, Germany. Symptoms usually
begin in childhood or youth as the result of deterioration in
areas of the brain controlling muscle coordination, the
spinal cord, and nerves. People with Friedreich's ataxia
usually suffer from reduced muscle coordination and an
irregular gait. Both arms and legs may become weak, and tasks
requiring good coordination, like writing, may become
difficult. There may be impaired speech. The spine may begin
to curve to one side and the feet may become rigid or
deformed. There may be numbness and loss of sensation in all
parts of the body, and some patients experience vision and
hearing problems. A few patients suffer mental impairment.
Diabetes is present in many Friedreich's ataxia patients, and
in some patients the heart muscles may be weakened.

How often does the disease occur?

Friedreich's ataxia is not common. According to a recent
survey, there are about 8,600 patients in the United States
with the disorder.

What causes Friedreich's ataxia?

Friedreich's ataxia is caused by an abnormality in one of the
genes-the biological "building blocks" that are passed from
parents to their children and that determine a person's
physical characteristics, from the color of the hair and eyes
to the organization of the nervous system. The disorder
develops only when a person inherits the defective gene from
both parents. This is called a recessive inheritance pattern.
If only one parent contributes a defective gene, the child
becomes a "carrier" of Friedreich's ataxia but never develops
the disorder. Carriers appear neurologically normal, and
sometimes may not know they are carriers until an afflicted
child is born to them.

The precise chemical abnormality in the gene responsible for
Friedrelch's ataxia has not yet been discovered. Nor is there
yet any test to identify carriers or to detect Friedreich's
ataxia in a child before birth.

Can patients expect to recover from the disease?

Occasionally Friedreich's ataxia appears to have become
arrested, and these remissions may last 5 to 10 years or
longer. However, in most cases the disease is slowly but
steadily progressive. Most patients are seriously
incapacitated within 20 years of the beginning of symptoms.
The average age of death used to be 36 years, but modern
hygiene and heart care have lengthened the average life span.
Nearly three-quarters of deaths are from heart failure.

Can Friedreich's ataxia be treated?

As with many degenerative diseases of the nervous system,
there is no specific treatment. Exercise may be beneficial,
especially for people whose illness begins later in life and
develops more slowly. In the exceptional case, braces can be
useful for foot drop, and surgical fixation of a joint by
fusion of the joint surfaces (arthrodesis) may be of value. A
good, normal diet should be followed. Some of the
complications of Friedreich's ataxia, such as diabetes and a
weak heart, are treatable.

What research is being done?

The National Institute of Neurological and Communicative
Disorders and Stroke (NINCDS), a unit of the National
Institutes of Health and the agency within the Federal
Government with primary responsibility for brain research,
sponsors research on various forms of ataxia.
NINCDS-supported studies encompass enzyme metabolism, genetic
investigations, and efforts to find animals in which the
ataxias can be induced experimentally and studied in the
laboratory. The ultimate goal of NINCDS research is to
prevent Friedreich's ataxia through greater understanding of
how the normal nervous system works, and discovery of the
specific malfunction that gives rise to this disorder.

Several nongovernment organizations also support research,
along with their patient service and educational programs.

Is help available?

Yes. Three private voluntary health agencies are active in
the field of Friedreich's ataxia. They are:

Friedreich's Ataxia Group in America, Inc. P.O. Box 11116
Oakland, California 94611 (415) 658-7014

National Ataxia Foundation 750 Twelve Oaks Center 15500 Wayzata Blvd
Wayzata, Minnesota 55391 (612) 473-7666

Muscular Dystrophy Association, Inc. 810 Seventh Avenue New
York, New York 10019 (212) 586-0808

You may wish to contact them for any additional information
they can provide.

Prepared by Office of Scientific and Health Reports National
Institute of Neurological and Communicative Disorders and
Stroke Bethesda, Maryland 20205 NIH Publication No. 82-87
April 1982 U.S. DEPARTMENT OF HEALTH AND HUMAN SERVICES
Public Health Service National Institutes of Health