Ataxia

Neurosciences | Posted on 12/01/2020 by RBH

The word “ataxia” has its roots in the Greek word, “a taxi,” which means “lack of order or coordination.” As such, ataxia is a disease that affects a person’s nervous system. The disease mainly attacks the cerebellum – an area of the brain responsible for coordinating movement. Being a progressive, neurological disease, ataxia affects a person’s ability to walk, talk, and use fine motor skills – muscle coordination or control. People suffering from this condition may find it challenging to use their hands, legs, fingers, arms, even tongue and eyes. The disease may affect people of all age groups.

Symptoms of ataxia

Many symptoms of ataxia mimic those caused by excessive alcohol consumption such as slurred speech, stumbling and falling, and lack of coordination. However, given below is an extensive list of symptoms for the disease –

• Lack of muscle control or coordination
• Stammering speech (dysarthria)
• Gait abnormalities/Poor balance
• Abnormalities in eye movements (nystagmus)
• Tremors
• Inability to use fine motor skills – writing, buttoning or ironing a shirt, etc.

What causes ataxia?

There can be more than one reason for developing ataxia. In general, ataxia can be –

• Inherited
• Acquired or
• Be idiopathic in nature

Here are the causes explained in detail based on the type of ataxia a person develops.

• Inherited ataxia

As the name suggests, inherited ataxia is inherited – it occurs when there are mutations in specific genes that ultimately damage nerve tissue. There are two ways in which inherited ataxia can be passed down from one generation to the other – dominantly inherited ataxia wherein the mutated gene may be passed down from either of the parents and recessively inherited ataxia wherein the mutated gene is passed down from both parents.

Dominantly inherited ataxia and recessively inherited ataxia can be further classified. Examples of dominantly inherited ataxia include spinocerebellar ataxia, which is a highly progressive and degenerative condition and episodic ataxia which occurs in episodes and is not progressive. Recessive inherited ataxia’s examples include Friedrich’s ataxia which generally affects the heart and causes muscle weakening and ataxia telangiectasia wherein the patient has dilated blood vessels in the eye and face; this type of recessively inherited ataxia makes people more prone to infections and cancers.

• Acquired ataxia

This type of ataxia generally occurs due to nerve damage from external factors such as an injury to the head. Causes of acquired ataxia may include –

• Stroke
• Cerebral palsy
• Tumours – either of the brain or its neighbouring area
• Infections – meningitis, chickenpox, HIV, etc.
• Autoimmune diseases such as multiple sclerosis, paraneoplastic syndromes, etc.
• Hypothyroidism – an exceptionally underactive thyroid gland
• Vitamin deficiencies – Vitamin B-12, E, etc.
• Heavy metal poisoning – mercury, aluminium, lead, etc.
• Excessive alcohol consumption
• Toxic reaction to certain medications such as AED, chemotherapy drugs, barbiturates, etc.

• Idiopathic ataxia

There may be individuals in whom ataxia may arise spontaneously and for which the exact cause may be unknown. In such people, the ataxia is considered idiopathic in nature.

Diagnosis and treatment

For an ataxia diagnosis, the very first thing the doctor will ask is for the patient’s medical and family history to rule out inherited ataxia. They may also ask for the kinds of medications the patient takes and their alcohol consumption levels.

Once done, physical and neurological evaluations will be performed, wherein the doctor will monitor the patients –

• Balance
• Movement
• Clarity of speech
• Eyesight
• Coordination and control
• Memory
• Concentration levels
• Auditory abilities

The healthcare provider may also ask for additional tests as they deem fit, such as –

• A CT or MRI scan to get a detailed image of the brain
• Blood tests to check for vitamin deficiencies, hypothyroidism, and infections
• Spinal tap or lumbar puncture wherein a sample of the Cerebrospinal Fluid (CSF) is collected for testing
• Genetic testing wherein a blood sample is collected to check for gene mutations

Once the diagnosis and the type of ataxia have been confirmed, the healthcare provider will determine the next course of action – treatment. The treatment method will depend upon the type and severity of the condition.

Note – There is no permanent cure for several kinds of ataxia; however, treatment can significantly reduce symptoms and improve the patient’s quality of life.

The treatment options include –

• Medications – to help ease the symptoms. Medications may include amitriptyline or gabapentin for nerve pain, muscle relaxants for cramping and stiffness, and antidepressants in case the patient suffers from depression.
• Physical therapy or physiotherapy – to help with balance and muscle coordination issues.
• Speech therapy – wherein the therapist teaches the patients techniques to make their speech clearer.
• Occupational therapy – focuses on improving the quality of the patient’s day-to-day life – hand-eye coordination such as using scissors, controlling a pencil while writing, etc.

The right time to see a doctor

If you or a dear one experiences the following, visit a doctor as soon as possible –

• Lose balance or muscle coordination frequently
• Face difficulty in walking upright
• Stammer in speech
• Face difficulty chewing or swallowing food