Information regarding ataxia, a neurological sign consisting of lack of voluntary coordination of muscle movements.
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. Many conditions can cause ataxia to include:
A defective gene that is inherited may also cause ataxia.
Ataxia may develop over a period of time, or it might come on suddenly. Ataxia is a sign of a number of 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 not aware 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 in relation to 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, is comprised of 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 of the cerebellum 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 are unable to find a specific cause. The ataxia is known as, 'sporadic degenerative ataxia,' and may take a number of forms, to include multiple system atrophy - a progressive and degenerative disorder.
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 as a recessive gene from each of the person's parents. It is possible, with autosomal recessive disorder, that neither parent has the disorder - referred to as, 'silent mutation.' There may be no clear family history.
Different gene defects cause different forms of ataxia, the majority of which are progressive. Every form causes poor coordination, although each has specific signs and symptoms.
Autosomal dominant ataxias include, 'episodic ataxias,' and, 'spinocerebellar ataxias.' These forms of ataxias are described below.
Researchers have discovered greater than twenty autosomal dominant ataxia genes and the number will most likely increase. Cerebellar ataxia and cerebellar degeneration are common to all forms, yet additional signs and symptoms - to include as of onset, differ depending upon the specific gene mutation.
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, which are triggered by stress. With this form of ataxia, a person might experience fatigue, dizziness and muscle weakness during their episodes. In some instances of 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 include Friedreich's ataxia, ataxia-telangiectasia, congenital cerebellar ataxia and Wilson's disease. Descriptions of these forms of ataxia follow below.
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 prior to the age of twenty-five. The rate of disease progress varies.
The first indication is usually difficulty with walking or, 'gait ataxia.' The condition typically progresses to a person's arms and trunk. Muscles weaken and waste away over a period of 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. The heart disease might involve enlargement of the person's heart, or even heart failure.
Ataxia telangiectasia is a rare and progressive childhood disease that causes degeneration in 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, as well as 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. The majority of people with the disease use a wheelchair by adolescence and die in their teens or early twenties.
People with ataxia usually start by visiting their family doctor or a general practitioner. In some instances; however, the person's doctor might refer them to a neurologist immediately. Below is some information to help with preparing for an appointment.
Write down any questions you want to ask your doctor. Preparing a list of questions will help you to make the most of the time you have 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.
A doctor who suspects a diagnosis of a form of ataxia will most likely ask you several questions. The reason your doctor does this is 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.
If you experience ataxia, your doctor will for a treatable cause of it. 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:
A computerized tomography (CT) scan, or a magnetic resonance imaging (MRI) of your brain might help with determining potential causes of ataxia. An MRI can at times show shrinking of a person's cerebellum and other brain structures in people who have ataxia.
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 available for many others who experience forms of hereditary ataxias.
A lumbar puncture or, 'spinal tap,' involves a needle being inserted into a person's lower back between two lumbar bones in order 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.
The fact is - there is no specific treatment for ataxia. In some instances, treating the underlying cause ends up resolving the ataxia a person experiences. In other instances, such as ataxia resulting from chickenpox or another viral infection, it is likely to resolve on its own over a period of time.
Treatment for ataxia is dependent upon the cause of the condition. Adaptive devices such as canes or walkers may help a person to maintain their independence. Occupational, speech, or physical therapy might also help.
The movement disorders associated with ataxia can be managed by pharmacological treatments and through physical therapy 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.
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.
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, either for ataxia itself or for 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 times know about the latest treatments and often share their own experiences. If you are interested, your doctor might be able to recommend a group in your community.