I had a “normal” friend of mine suggest to me that I should have included a post explaining what is Ataxia. I initially balked at the idea thinking that those that have it know what Ataxia is and so do those close to them.
But, when I considered just how frustrated and confused I was in the beginning when I was searching for any meaningful answers. Coupled with the occasional, “yeah right” attitudes from a few insensitive members of my extended family I decided to add this post.
I didn’t really feel qualified to try and tackle the explanation by myself so I enlisted the help of another “normal” friend to put this together for me. Her name is Denise, she is a professional writer. I think Denise did a great job…
What is Ataxia?
Ataxia is commonly understood to be a lack of muscle coordination, which may affect speech, eye movements, the ability to swallow, walking, picking up objects and other voluntary movements. Persistent ataxia symptoms in a person may indicate damage in the part of the brain that controls muscle coordination – the cerebellum. Ataxia is known to be the result of several causes, which can make diagnosis difficult. A few different causes include Multiple sclerosis, head injury, stroke, alcohol abuse, stroke, faulty genes, tumors, or cerebral palsy. Ataxia in coordination may also be as the result of an infection.
It is important to remember that Ataxia is a symptom and may occur as a result of many different underlying conditions such as those previously mentioned. Other kinds of Ataxia may be inherited caused by a faulty gene which is passed down through families or non-inherited (sporadic).
The most common inherited progressive ataxia worldwide is Friedreich’s ataxia, which is caused by a defect in the gene. Other faulty genes are responsible for at east 30 other types of inherited Ataxia.
Research continues to identify other genes, which cause inherited cerebellar ataxias to discover how they exert their effects. There are a wide array of causes both inherited and non-inherited and the diagnostic process may be lengthy and drawn out depending on the personal situation of individuals. There are still many people who do not have a specific diagnosis for their ataxia because the cause is elusive and judged on a case-by-case basis. New forms of Ataxia continue to be discovered as scientific techniques improve.
Ataxia has an awareness program and International Ataxia Awareness Day is observed on 25th September every year.
The most simple description of Ataxia according to Medilexicon’s Medical Dictionary is: “ An inability to coordinate muscle activity during voluntary movement; most often results from disorders of the cerebellum or the posterior columns of the spinal cord; may involve the limbs, head, or trunk.”
The term Ataxia may also be broadly used to indicate a lack of coordination in any physiological process, which would typically include a lack of coordination between visual inputs and hand movements or ataxic respiration, which is uncoordinated respiratory movements, usually due to dysfunction of the respiratory centers.
For people whose symptoms are caused by injury or illness, symptoms often improve over time, and eventually go away completely.
The word “Ataxia” as it is known in English is from the Ancient Greek word ataksia meaning “disorder”. The Ancient Greek word taksia means “order”.
Types of ataxias
This type of ataxia is caused by a dysfunction in the region of the brain, which is involved, with the assimilation of sensory perception, coordination and motor control. When dysfunction is present, Cerebellar ataxia causes some basic neurological problems, such as:
• Floppiness Lack of co-ordination between organs, muscles, limbs or joints
• Impaired ability to control distance, power, and speed of an arm, hand, leg or eye movement
• Difficulty in accurately estimating how much time has passed
• An inability to perform rapid, alternating movements
Depending where lesions in the brain occur (one side or both sides), the affect on the sufferer will vary. The balance and eye movement control may be affected. In addition, the sufferer will usually stand with feet wide apart in order to gain better balance and avoid swaying backwards and forwards. Even when the eyes are open, the Ataxia sufferer will find it difficult to balance when the feet are together.
If the spinocerebellum is affected the patient will have an unusual gait, with unequal steps, sideways steps, and uncertain starts and stops. This part of the brain regulates body and limb movements.
If the cerebrocerebellum is affected the patient will have problems carrying out voluntary, planned movements. The head, eyes, limbs, and torso may tremble as voluntary moves are carried out. Speech may be slurred, with variations in rhythm and loudness.
This is ataxia due to loss of proprioception. This is the sense by which the relative position of neighboring parts of the body is recognised. It is a sense that indicates whether the body is moving with the required effort, and also where the various parts of the body are located in relation to each other. Someone without Ataxia would be able to be blindfolded and still know where their limbs are in relation to the rest of their body for example even though they cannot see because of the blindfold they still know their arm is up in the air or hanging by their side.
A person with sensory ataxia usually has an unsteady stomping gait, with the heel striking hard as it touches the ground with each step. If lighting is poor, this instability becomes worse. Typically, a person with sensory ataxia will be much worse when a doctor asks if they can stand with their eyes closed and feet together. This is because loss of the proprioception makes the ataxia sufferer much more reliant on visual cues and images. Ataxia patients may find it hard to perform smoothly coordinated voluntary movements with the limbs, trunk, pharynx, larynx, and eyes.
The vestibular system is affected. In acute (sudden) unilateral cases, the patient may experience vertigo, nausea, and vomiting. In slow-onset chronic bilateral cases, the patient may only experience unsteadiness, giddiness.
What are the symptoms of ataxia?
Symptoms may vary depending on the severity and type of ataxia, of which there are many. If the ataxia is caused by an injury or another health condition, symptoms may emerge at any age, and may well improve and eventually disappear.
Initial ataxia symptoms usually include:
• Poor limb coordination.
• Dysarthria – slurred and slow speech that is difficult to produce. The patient may also have difficulties controlling volume, rhythm, and pitch.
If the ataxia advances, other symptoms may also appear:
• Swallowing difficulties, which may sometimes result in choking or coughing?
• Facial expressions become less apparent.
• Tremors – parts of the body may shake or tremble unintentionally.
• Involuntary rapid rhythmic repetitious eye movement. Movements may be vertical, horizontal, or circular.
• A foot with too high an arch.
• Cold feet – because of a lack of muscle activity.
• Balance Problems
• Walking difficulties
• Vision problems.
• Hearing problems.
• Depression (as a result of having to live and cope with the symptoms)
What are the causes of ataxia?
Vitamin B12 deficiency – as well as other neurological abnormalities, vitamin B12 deficiency can cause overlapping cerebellar and sensory ataxia.
Ataxia can be a symptom of another health condition; it can also be inherited or non-inherited.
This means the ataxia is caused by a genetic fault inherited either from the mother or father, or both. A faulty gene that is passed down through generations can cause cerebellar ataxia – in some cases its severity worsens from one generation to the next and the age of onset gets younger. This type of worsening inherited ataxia is known as anticipation.
The chances of inheriting ataxia from a parent depends on the type of ataxia that parent has. For a person to develop Friedreich’s ataxia the faulty gene would need to be carried by both the mother and the father (recessive inheritance). Spinocerebellar ataxia, on the other hand, only requires one parent to carry the defective gene (dominant inheritance), and each of his/her offspring would have a 50% risk of developing the condition.
Even without a family history of ataxia some people may still develop the condition. In some cases, experts never find out what the cause was. The following procedures and circumstances can cause ataxia:
• Brain surgery.
• Head injury.
• Alcohol abuse.
• Drug abuse.
• Infections, such as chicken pox (usually goes away after infection has gone).
• A brain tumor.
• Exposure to toxic chemicals.
• Multiple sclerosis, cerebral palsy, and some other neurological conditions.
• Malformation of the cerebellum while the baby is still in the womb.
How is Ataxia diagnosed?
A doctor who suspects the patient may have ataxia will refer him/her to a neurologist – a doctor specialized in diagnosis, treatment, and prevention of conditions and illnesses related to the nervous system.
The specialist will check the patient’s medical history for cause factors, such as brain injury, as well as the patient’s family history for indications of inheritance. The following tests may also be ordered:
• MRI or CT scan – to determine whether there is any brain damage.
• Genetic tests – to determine if the ataxia is inherited.
• Blood tests – some types of ataxia affect the make up of blood.
• Urine tests – urinalysis may suggest specific abnormalities that are linked to some forms of ataxia.
It is sometimes difficult to diagnose a specific cause of ataxia and in some cases the specialist never knows what caused the ataxia, this is known as sporadic or idiopathic ataxia.
Reaching a conclusive diagnosis of ataxia can sometimes take a long time because the symptoms could point to several other conditions.
What is the treatment for ataxia?
Ataxia is incurable but a great deal can be done to ease symptoms and improve the quality of life of the patient. Treatment for coordination and balance problems usually involves the use of helpful devices which help the patient attain as much independence as possible. These may include the use of a cane (walking stick), crutches, walker or a wheelchair. Symptoms such as tremor, stiffness, spasticity, sleep disorders, muscle weakness, depression (or frustration, sadness and anger) may be addressed with targeted physical therapy, speech therapy, medication and counseling.
• Occupational therapy – Occupational therapy can help the patient manage better around the house and work. This may involve some home adaptations, wheelchair assessments, and making the kitchen more practical for the patient.
• Speech therapy – the speech therapist can help with swallowing, coughing, choking and speech problems. If speech becomes very difficult, the speech therapist can help the patient learn how to use speech aids.
• Orthopedic care – this can help patients with curvature of the spine (scoliosis).
• Physical therapy (physiotherapy) – a physical therapist (physiotherapist) can help maintain strength and improve mobility.
• Counseling – patients with ataxia commonly become frustrated and depressed; this usually results from having to cope with some symptoms, which affect physical mobility and coordination. Talking to a well-qualified counselor, such as a psychotherapist can help.
• Supplements and nutrition – some patients with ataxia have very low levels of vitamin E and require supplements and/or a special diet. As sensitivity to gluten is more common among ataxia patients, a gluten-free diet also helps.
• Medication – some patients with ataxia telangiectasia are prescribed gamma-globulin injections to boost their immune systems. There are also drugs for muscle spasms and uncontrollable eye movements.
What is Ataxia Summary
Ataxia is a symptom, not a specific disease or diagnosis. Ataxia means clumsiness, or loss of coordination. Ataxia may affect the fingers and hands, the arms or legs, the body, speech or eye movements. A number of different medical or neurologic conditions may cause this kind of loss of coordination; for this reason, it is important that a person with ataxia seek medical attention to determine the underlying cause of the symptom so the appropriate treatment may be prescribed.
What causes ataxia?
Most often, ataxia is caused by loss of function in the part of the brain which serves as the “coordination center”, which is the cerebellum. The cerebellum is located toward the back and lower part of the head. The right side of the cerebellum controls coordination on the right side of the body, and the left side controls coordination on the left. The central part of the cerebellum is involved in coordinating the very complex movements of gait, or walking. Other parts of the cerebellum help to coordinate eye movements, speech and swallowing.
Ataxia may also be caused by dysfunction of the pathways leading into and out of the cerebellum. Information comes into the cerebellum from the spinal cord and other parts of the brain, and signals from the cerebellum go out to the spinal cord and to the brain. Although the cerebellum does not directly control strength (“motor function”) or feeling (“sensory function”), the motor and sensory pathways must work properly to provide the correct input into the cerebellum. Thus, a person with impaired strength or sensation may notice clumsiness or poor coordination, In addition, the doctor may say that person has ataxia.
How does a physician diagnose ataxia?
Remember, ataxia is a symptom, not a diagnosis. If you have clumsiness or loss of coordination in an arm or both legs or slurred speech, the physician may say that you have an ataxic arm or ataxic gait or ataxic speech. Then the physician must determine why this has happened. To do this, the physician will first ask many questions about your ataxia, how it came on, whether it is getting worse, whether there are any other symptoms, and so on.
A very important part of the evaluation is the neurologic examination. The physician can usually determine whether the ataxia is caused by trouble in the cerebellum, its associated pathways, or other parts of the nervous system by his neurologic examination. A careful neurologic and general physical examination can also determine whether other parts of the nervous system are impaired and whether a medical illness may be causing the ataxia.
Blood tests and X-rays may be very helpful in the diagnosing specific medical or neurologic conditions that can cause ataxia, or in “ruling out” suspected causes.
Here is a list of some medical and neurologic conditions that can cause ataxia to appear suddenly:
• head trauma
• brain hemorrhage
• brain tumor
• congenital abnormality (the back part of
• the brain was formed in an unusual way)
• “post-infectious” (after a severe viral
• exposure to certain drugs or toxins
• (e.g. alcohol, seizure medicine)
• following cardiac or respiratory arrest
Here is a list of some medical and neurologic conditions that can cause ataxia to appear gradually:
• deficiencies of certain vitamins
• (e.g. Vitamin E, Vitamin B12)
• exposure to certain drugs or toxins (e.g.
• heavy metals, seizure medicine, chronic
• alcohol exposure, certain cancer drugs)
• related to certain kinds of cancer (e.g.
• ovarian, lung cancer)
• congenital abnormality (the back part of
• the brain was formed in an unusual way)
• multiple sclerosis
• syphilis (locomotor ataxia)
• hereditary disorders
• “idiopathic” (unknown cause) cerebellar degeneration
You can see that the list of conditions that the physician must think about as causes of ataxia is rather long; proper diagnosis may require a number of examinations, X-rays, and tests.
How is ataxia treated?
There is no medicine, which specifically treats the symptoms of Ataxia. If ataxia is due to a stroke, a low vitamin level, or exposure to a toxic drug or chemical, then treatment would include treatment of the stroke, vitamin therapy, or avoiding the toxic drug or chemical. There is no reason to think that taking vitamins or thyroid will help ataxia that is not caused by vitamin or thyroid deficiency.
The treatment of incoordination or ataxia, then, mostly involves the use of adaptive devices to allow the ataxic individual to maintain as much independence as possible. Such devices may include a cane, crutches, walker, or wheelchair for those with impaired gait; devices to assist with writing, feeding, and self cares if hand and arm coordination is impaired; and communication devices for those with impaired speech.
Many patients with hereditary or idiopathic forms of ataxia have symptoms in addition to ataxia. Medication or other therapies might be appropriate for some of these symptoms, which could include tremor, stiffness, depression, and sleep disorders, among others.