Ataxia

Ataxia can be divided into three different categories:

• Acquired ataxia: Ataxia could be the result of an underlying condition or due to damage to the brain or the spine, which affects the nerve cells that control the various movements of the body. Acquired ataxia can happen due to:
  • Head injury or brain injury
  • Brain tumours
  • Stroke
  • Cerebral palsy
  • Hypothyroidism
  • Autoimmune disorders such as multiple sclerosis (MS)
  • Chickenpox, HIV/AIDS, meningitis or other viral infections
  • Nutritional deficiencies such as vitamin B-12 deficiency, vitamin E deficiency, vitamin B1 or thiamine deficiency
  • Excess intake of alcohol or alcoholism
  • Lead poisoning or mercury poisoning
  • Due to certain medications such as sedatives or drugs for chemotherapy
• Inherited ataxia: Inherited or hereditary ataxia gradually causes degeneration in the different muscles and movements of the body. This occurs due to faulty genes that are passed down from one or both parents. 
  In the dominant type of ataxia, one copy of a mutated gene inherited from either parent is enough to cause this condition. Two copies of the gene are required to cause this condition in the case of recessive ataxia, one from each parent.
  Spinocerebellar ataxia is one of the more common types of inherited, dominant ataxia, while episodic ataxia occurs over various episodes of different durations, based on the various different types of the condition.
  Some of the common kinds of inherited ataxias include:
  • Friedreich's ataxia: Also known as a spinocerebellar degeneration, Friedreich's ataxia affects the brain and the spinal cord, affecting the patient's ability to walk or speak by weakening the muscles. It is also known to affect the muscles of the heart.
  • Ataxia telangiectasia: A rare disease that usually affects children, ataxia telangiectasia affects the brain as well as other parts, leading to uncoordinated movements. The word telangiectasia refers to enlarged or dilated blood vessels under the surface of the skin—these are prominent in the eyes or on the face.
• Idiopathic late-onset cerebellar ataxia: There is no identifiable cause for this type of ataxia, but it results in the degeneration of brain cells over time.

Common symptoms of any kind of ataxia include the following:

• Difficulty walking or balancing
• Slurred speech
• Difficulty eating and swallowing
• Lack of coordination in the muscles
• Unusual eye movements such as nystagmus, which leads to involuntary and repetitive movements of the eyes (Read more: Eye disorders)
• Difficulty performing tasks such as writing, picking things up from the floor or a surface, buttoning a shirt
• Tremors, shaking or trembling

As mentioned above, ataxia can be caused by a variety of factors, some of which include:

• Ataxia can occur due to damage to the central nervous system, particularly the brain and the spinal cord as well as the nerves that govern the motor skills, coordination and movement in the body. It is usually due to an abnormality in the cerebellum or the nerves connecting to that area of the brain. However, the damage may also occur due to other factors such as strokes or sudden brain trauma.
• In inherited ataxias, copies of faulty genes are inherited from parents that lead to the slow progression of the condition with age and time.
• In the case of idiopathic ataxias, the exact causes remain unknown. However, the degeneration of nerve cells or brain functions continues without the presence of an underlying condition or faulty genes.
• Recent studies have also shown that severe symptoms of COVID-19 have also resulted in the onset of ataxia in some patients.

The above-mentioned German study, published in the scientific journal The Lancet, is the largest ever conducted on this subject (the study began in 2008). It included 14 scientific institutions from seven different countries and studied 252 adults. Researchers of the study wanted to understand the onset of the four most common types of spinocerebellar ataxia also known as SCA1, SCA2, SCA3 and SCA6.

The researchers found that nearly half of the volunteers had faulty genes leading to the development of ataxia over time, with half of those mutation carriers developing symptoms of the condition while the study was on. The authors of the study concluded that ataxia cannot be diagnosed or detected until the condition has already progressed to an advanced stage, urging for the addition of more biomarkers that can identify the onset of the disease.

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The presence of any of the above mentioned symptoms should be reason enough for a person to get themselves checked by a doctor.

Many movement disorders, however, share similar symptoms and it can be difficult to diagnose ataxia accurately in some cases. However, the doctor will ask the patient about the symptoms they have been experiencing, how long the symptoms have been there for, as well as their medical history. If there is any family history of ataxia, the diagnosis may be arrived at earlier.

The doctor may also ask the patient about any medications they have been on and for which conditions, as well as how regularly they drink alcohol, which also is a cause behind many of the symptoms. Based on the answers, the doctor would be able to assign the right tests, including a neurological evaluation.

A physical examination could be performed to look at the way the patient walks or stands, and to observe the general coordination in the body which also includes eye movements. The exam may also include testing the patient's reflexes and motor skills. 

The patient may also be checked for infections or other underlying conditions that may trigger an onset of ataxia through blood and urine tests. Some other tests include genetic testing to check for any genetic mutation that may be causing the condition, or even scans of the brain that can find abnormalities such as tumours which could explain the symptoms.

Other tests including a lumbar puncture (cerebral spinal fluid test) to check the cerebrospinal fluid in the spine, ECG, EEG or other tests to observe the functioning of the nerves and muscles in the body can also help in accurately diagnosing the condition.

As ataxia is an irreversible condition like many neurological disorders, treatment methods for the disease are focused on alleviating symptoms and improving the quality of life of patients. As there are different types of ataxias, every individual requires a specific treatment approach.

Speech therapy, occupational therapy as well as physical therapy must be carried out along with medicinal treatments to maintain the range of movement or to manage the symptoms affecting the patient's day-to-day activities. It is important to lead a physically active lifestyle, as the disease can progress quickly otherwise.

The use of assisted devices such as wheelchairs, walkers may also be recommended to help the patient get around, while devices that help with speech may also be used for improvements in communicating.

If the ataxia is due to an underlying disease, treatment for the disease should alleviate the symptoms and discomfort of ataxia as well.

Medications are used to ease pain in the nerves, while muscle relaxants can help in easing the symptoms of frequent cramps or rigidity in the body. A recent study found that ataxia is extremely difficult to diagnose early on. Therefore, it is important for people to look out for symptoms, and visit a doctor immediately to get a checkup if they observe any of the signs of ataxia.