Ataxias

More than 1 Million Americans
live with Parkinson's disease, and some
60,000 new cases are diagnosed each year

According to the National Ataxia Foundation, ataxia affects an estimated 150,000 Americans. Ataxia can strike anyone at any time regardless of age, gender, or race.
The term ataxia refers to a group of progressive neurological diseases that affect coordination and speech. Ataxias are often characterized by poor coordination of hands, speech, and eye movements, and a wide-based, uncoordinated, and unsteady gait.

Ataxias can be associated with infections, injuries, other diseases, or degenerative changes in the central nervous system. For example, ataxia is often a symptom of other medical conditions such as head injury, stroke, and multiple sclerosis.

There are numerous forms of ataxia, but for our purposes here they can be classified into two distinct groups:

  • Hereditary ataxias affect the cerebellum and spinal cord and are passed from one generation to the next through a defective gene. The two most common types of hereditary ataxia are Friedreich’s (recessive) ataxia and Marie’s (dominant) ataxia. Other types include: Machado-Joseph disease, ataxia with opthalmoplegia, spinopontine atrophy, ataxia with etinopathy, and slow-eye movement ataxia.
  • Sporadic ataxias occur spontaneously in individuals with no known family history of ataxia.  There are many forms of sporadic ataxia including spastic ataxia, Menzel’s ataxia, Holmes’s ataxia, sporadic atrophy, and most commonly sporadic OPCA, or sporadic olivopontocerebellar atrophy. Sporadic ataxia is very difficult to diagnose, and your neurologist will need to rule out the possibility of hereditary ataxia before making a final diagnosis.

Ataxias: Symptoms

General ataxia symptoms include:

  • Poor coordination of the hands, arms, and/or legs.
  • Alterations in walking and equilibrium, slowness, rigidity, and awkwardness in movements.
  • Dull, or incomprehensible speech (dysarthria)
  • Difficulty stopping one movement and following it immediately with a movement in the opposite direction. (adiadochokinesia).

As the illness progresses, patients may exhibit additional symptoms related to other parts of the brain or the nervous system, such as an inability to move the eyes, weakness, tremor, spasticity, insanity, or loss of sensitivity in the feet and/or the hands.

Ataxias: Diagnosis

Ataxia can be difficult to diagnose because the symptoms are similar to those of other neuromuscular disorders. In addition to conducting a thorough review of your medical and family history, your physician will perform a complete neurological examination, including an MRI scan of the brain. He or she may also request blood tests to rule out other possible disorders that may present similar symptoms.

Additionally, there are genetic blood tests available to confirm a diagnosis of hereditary ataxia. There are also predictive tests to determine if you have inherited an ataxia gene known to affect other family members.

Ataxias: Treatment

If you suffer from a form of ataxia caused by another condition, your physician will begin by treating that underlying condition first. For example, ataxia caused by a metabolic disorder may be treated with medications and a controlled diet. Ataxia associated with a vitamin deficiency may be treated with vitamin therapy.

There are also a number drugs and therapies available to help treat gait and swallowing disorders. The physical therapist assigned to your patient care team may suggest exercises to help strengthen muscles. An occupational therapist may also fit you for special equipment to assist in walking and performing other activities of daily life.

Ataxias: Resources

National Ataxia Foundation (NAF)
2600 Fernbrook Lane
Suite 119
Minneapolis, MN 55447-4752
naf@ataxia.org
Tel: 763-553-0020
Fax: 763-553-0167

Friedreich’s Ataxia Research Alliance (FARA)
P.O. Box 1537
Springfield, VA 22151
E-mail:  fara@cureFA.org
Tel: 703-426-1576
Fax:  703-425-0643

International Joseph Disease Foundation, Inc.
P.O. Box 994268
Redding, CA 96099-4268
MJD@ijdf.net
Tel: 530-246-4722

WE MOVE (Worldwide Education & Awareness for Movement Disorders)
204 West 84th Street
New York, NY 10024
wemove@wemove.org
Tel: 212-875-8312
Fax: 212-875-8389

National Organization for Rare Disorders (NORD)
NORD Washington Office
1779 Massachusetts Avenue,
Suite 500
Washington, DC 20036
Tel:  202-588-5700
Voice Mail: 800-999-NORD (6673)
Fax: 202-588-5701
orphan@rarediseases.org

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