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Ataxia: Types, Causes, Symptoms, Treatments

Published: 2015-03-05 - Updated: 2023-01-28
Author: Thomas C. Weiss | Contact: Disabled World (Disabled-World.com)
Peer-Reviewed Publication: N/A
Additional References: Health and Disability Publications

Synopsis: Information regarding ataxia, a neurological sign consisting of lack of voluntary coordination of muscle movements. Some forms of ataxia and conditions that cause ataxia are hereditary. People who experience one of these conditions were born with a defect in a specific gene that makes abnormal proteins. With the autosomal recessive disorder, it is possible that neither parent has the condition - referred to as 'silent mutation.' There may be no apparent family history.

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Definition

Ataxia

Ataxia describes a lack of muscle control during voluntary movements, such as walking or picking up objects. Ataxia is a non-specific clinical manifestation implying dysfunction of the parts of the nervous system that coordinate movement, such as the cerebellum. A sign of an underlying condition, ataxia can affect movement, speech, eye movement and swallowing. The term sensory ataxia is employed to indicate ataxia due to loss of proprioception, the loss of sensitivity to the positions of joint and body parts. This is generally caused by dysfunction of the dorsal columns of the spinal cord, because they carry proprioceptive information up to the brain.

Main Digest

Many conditions can cause ataxia to include:

A defective gene that is inherited may also cause ataxia.

The U.S. Social Security Administration (SSA) has included Ataxia Telangiectasia as a Compassionate Allowance, which expedites certain disability conditions claims.

Related Publications:

Symptoms of Ataxia

Ataxia may develop over some time, or it might come on suddenly. Ataxia is a sign of several neurological disorders and may cause poor coordination, changes in speech, difficulties with swallowing, an unsteady gait with a tendency to stumble, involuntary movements of a person's eyes, as well as difficulties with fine motor tasks such as writing, eating, or buttoning an item of clothing. If you are unaware of experiencing a condition that might cause ataxia, such as multiple sclerosis, it would be wise to visit your doctor. The following symptoms are reasons why you should visit your doctor about ataxia:

Basic labeled human brain structure.
Basic labeled human brain structure.

Causes of Ataxia

Degeneration, damage, or loss of nerve cells in the portion of a person's brain that controls muscle coordination results in ataxia. A person's cerebellum, the part of the brain affected, comprises two ping-pong ball-sized portions of folded tissue. The portions are situated at the base of the brain near the brainstem. The right side of a person's cerebellum controls coordination on the right side of their body, while the left side controls coordination on the left. Diseases that damage a person's peripheral nerves and spinal cord that connect their cerebellum to their muscles also might cause ataxia.

For some people who develop sporadic ataxia, doctors cannot find a specific cause. The ataxia is known as 'sporadic degenerative ataxia and may take several forms, including multiple system atrophy - a progressive and degenerative disorder.

Hereditary Ataxias

Some forms of ataxia and conditions that cause ataxia are hereditary. People who experience one of these conditions were born with a defect in a certain gene that makes abnormal proteins. The proteins dampen the functioning of nerve cells - mainly in a person's cerebellum and spinal cord, causing them to degenerate. As the disease progresses, a person's coordination issues worsen.

A person may inherit a genetic ataxia from either a dominant gene from one parent or a recessive gene from each person's parents. Neither parent may have the disorder with the autosomal recessive disorder - " silent mutation." There may be no clear family history.

Different gene defects cause different forms of ataxia, most of which are progressive. Every form causes poor coordination, although each has specific signs and symptoms.

Autosomal Dominant Ataxias

Autosomal dominant ataxias include, 'episodic ataxias,' and, 'spinocerebellar ataxias.' These forms of ataxias are described below.

Spinocerebellar Ataxias:

Researchers have discovered greater than twenty autosomal dominant ataxia genes, and the number will most likely increase. Cerebellar ataxia and cerebellar degeneration are common in all forms, yet additional signs and symptoms - including as of onset, differ depending upon the specific gene mutation.

Episodic Ataxia:

Seven forms of recognized ataxias which are episodic instead of progressive, are recognized. The ataxias are called EA1 through EA7. EA1 and EA2 are the most common forms of episodic ataxia. EA1 involves brief ataxic episodes that might last mere seconds or minutes. The episodes are triggered by stress, being startled, or sudden movement and are often associated with muscle twitching. EA2 involves longer periods, commonly lasting from a half-hour to six hours, triggered by stress. With this form of ataxia, a person might experience fatigue, dizziness, and muscle weakness during their episodes. In some episodic ataxia, the symptoms resolve later in the person's life. Episodic ataxia does not shorten a person's life span, and the symptoms might respond to medication.

Autosomal Recessive Ataxias

Autosomal recessive ataxias include Friedreich's ataxia, ataxia-telangiectasia, congenital cerebellar ataxia, and Wilson's disease. Descriptions of these forms of ataxia follow below.

Friedreich's Ataxia

Friedreich's ataxia is the most common form of hereditary ataxia and involves damage to a person's cerebellum, peripheral nerves and spinal cord. Peripheral nerves carry signals from a person's brain and spinal cord to their muscles. In most instances, signs and symptoms of this form of ataxia appear before age twenty-five. The rate of disease progression varies.

The first indication is usually difficulty walking or 'gait ataxia.' The condition typically progresses to a person's arms and trunk. Muscles weaken and waste away over time, causing deformities, especially in the affected person's hands, lower legs, and feet. Additional signs and symptoms that might develop as the disease progresses include:

The signs and symptoms that might appear in people with Friedreich's ataxia may experience also includes heart disease. Heart disease might involve enlargement of the person's heart or even heart failure.

Ataxia-telangiectasia

Ataxia telangiectasia is a rare and progressive childhood disease that causes degeneration of the brain and other body systems. The disease causes immune system breakdown or 'immunodeficiency disease,' something which increases susceptibility to other forms of diseases. Ataxia-telangiectasia affects a person's organs.

'Telangiectasias,' are tiny red spider veins that may appear in the corners of a child's eyes or on their ears and cheeks. While they are characteristics of the disease, a child might not develop them. Delayed motor skills development, slurred speech, and poor balance are typical first indications of the disease. Recurrent sinus and respiratory infections are common. Children with ataxia-telangiectasia are at increased risk of developing cancer - especially leukemia or lymphoma. Most people with the disease use a wheelchair by adolescence and die in their teens or early twenties.

Preparing for a Doctor's Appointment

People with ataxia usually start by visiting their family doctor or a general practitioner. In some instances, however, the person's doctor might immediately refer them to a neurologist. Below is some information to help with preparing for an appointment.

Questions for the Doctor

Write down any questions you want to ask your doctor. Preparing a list of questions will help you make the most of your time with your doctor. For ataxia, some basic questions you should ask include the following:

Remember, you are there for answers, and your doctor can help you. Do not hesitate to ask additional questions.

Questions Your Doctor May Ask

A doctor who suspects a diagnosis of a form of ataxia will most likely ask you several questions. Your doctor does this to either exclude or achieve a diagnosis of ataxia. The questions a doctor may ask you include ones such as

In the meantime, do not drink alcohol or take recreational drugs. Alcohol or drugs may make your ataxia worse.

Tests for Ataxia

If you experience ataxia, your doctor will for a treatable cause. Your doctor will conduct a physical examination as well as a neurological one. Your doctor will check your:

In addition, your doctor may order laboratory tests. The tests your doctor may order could include:

Imagine Studies:

A computerized tomography (CT) scan or magnetic resonance imaging (MRI) of your brain might help with determining potential causes of ataxia. An MRI can sometimes show the shrinking of a person's cerebellum and other brain structures in people with ataxia.

Genetic Testing:

Your doctor may recommend genetic testing to determine whether you or your child has the gene mutation that causes one of the hereditary ataxic conditions. Gene tests are available for many people yet not for others who experience hereditary ataxias.

Lumbar Puncture:

A lumbar puncture or 'spinal tap' involves a needle inserted into a person's lower back between two lumbar bones to remove a sample of cerebrospinal fluid. The fluid, which surrounds and protects a person's spinal cord and brain, is then sent to a laboratory for testing.

Treating Ataxias

The fact is - there is no specific treatment for ataxia. In some instances, treating the underlying cause resolves the ataxia a person experiences. In other instances, such as ataxia resulting from chickenpox or another viral infection, it is likely to resolve independently over time.

Treatment for ataxia depends upon the condition's cause. Adaptive devices such as canes or walkers may help a person maintain independence. Occupational, speech, or physical therapy might also help.

Movement Disorders:

The movement disorders associated with ataxia can be managed by pharmacological treatments and physical and occupational therapy to reduce disability. Some drug treatments that have been used to control ataxia include:

Your doctor might recommend adaptive devices or forms of therapy to help with ataxia.

Ataxia and Adaptive Devices

For ataxia caused by conditions such as cerebral palsy or multiple sclerosis, ataxia may not be treatable. If this is the case, a doctor might be able to recommend adaptive devices such as

Therapies a person with ataxia may benefit from include speech therapy to improve speech and swallowing, occupational therapy to help you with tasks of daily living, as well as physical therapy to help you build strength and enhance your mobility.

Support and Coping with Ataxia

The challenges a person faces when living with ataxia, such as loss of independence, or having a child with a form of ataxia, might make you feel alone or lead to anxiety and depression. Interactions with a counselor or therapist may decrease your sense of isolation and help you to cope. You might also find understanding and encouragement in a support group for ataxia or an underlying condition such as multiple sclerosis or cancer.

While support groups are not for everyone, they can be good sources of information. Group members often know about the latest treatments and share their experiences. If you are interested, your doctor might be able to recommend a group in your community.

Statistics

Author Credentials:

Thomas C. Weiss is a researcher and editor for Disabled World. Thomas attended college and university courses earning a Masters, Bachelors and two Associate degrees, as well as pursing Disability Studies. As a Nursing Assistant Thomas has assisted people from a variety of racial, religious, gender, class, and age groups by providing care for people with all forms of disabilities from Multiple Sclerosis to Parkinson's; para and quadriplegia to Spina Bifida.

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Cite This Page (APA): Thomas C. Weiss. (2015, March 5). Ataxia: Types, Causes, Symptoms, Treatments. Disabled World. Retrieved January 29, 2023 from www.disabled-world.com/health/ataxia.php

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