Unlocking the mysteries of ataxia

Swasti Wagh (47) from Indore recalls how, at 14, she could not walk properly, and her feet trembled often. Daily activities such as travelling on the bus and running became challenging, and she felt fatigued, anxious and had vision issues.  Though her physician diagnosed her with vitamin deficiencies, supplements offered no relief, and her condition only worsened.

When she turned 18, her parents consulted a neurologist for her condition. “On detailed examination, the neurologist diagnosed me with a rare and progressive condition called ataxia,” says Wagh.

“It has been a long journey since the diagnosis,” says Wagh, still seeking answers to her condition. She is now the founder of the Ataxia Awareness Society, aiming to spread awareness about the rare neurological disorder.

“Ataxia is an umbrella term for a set of nervous system disorders that impact the movement, coordination, and balance of an individual,” says Dr Mohana Rao, a neurosurgeon at Dr Rao’s Hospital, Guntur, Andhra Pradesh. It can manifest at any age, he adds.

Studies suggest ataxia is a muscle movement disorder, and physical examination of the symptoms can hint at the condition. Difficulties with walking and movement, slurred speech, abnormal eye movement, and difficulty with daily tasks such as eating, buttoning a shirt, opening a bottle cap, and writing, may indicate ataxia. A 2018 study showed that ataxia affects 26 people per 100,000 worldwide, indicating its rarity.

The many manifestations of ataxia

Ataxia is caused by damage to the cerebellum—that part of the brain that controls body movements—and its connections to the spinal cord.

The cerebellum can suffer damage due to many reasons. However, studies show that ataxia chiefly results from these factors:

1. A brain injury, accident, or excessive consumption of alcohol can impact the spinal cord and brain regions leading to acquired ataxia.
2. The other type is inherited ataxia, a hereditary or genetic condition. Either or both parents who have the impaired gene can pass it on to their progeny.
3. Sporadic ataxia arises due to a gene mutation when the baby is still in the womb, with symptoms emerging only in adulthood. It is not inherited.

The inherent causes

Apart from genetic causes and injury to the cerebellum and spinal cord, ataxia can also result from vitamin B12 and E deficiencies, exposure to harmful chemicals, or brain tumours, says Dr Rao. Ataxia can also be categorised by the brain region it affects.

1. Cerebellar ataxia occurs when the condition damages the cerebellum, affecting balance, speech, and eyesight. The condition is marked as spinocerebellar ataxia when the spine is also affected.
2. In some individuals, the damage is to the sensory nerves, which affects their fine motor tasks such as eating or eye movement. This sensory ataxia is due to an impairment in the feedback signal from the sensory regions to the brain. Sensory ataxia is also a progressive condition. Although there is no known cure, treating sensory nerve damage could alleviate symptoms.
3. Another progressive condition, vestibular ataxia, is caused by ear infections that damage the auditory nerve. Loss of hearing, vision, and vomiting are noticeable symptoms.

Curious to learn more about her condition, Wagh got various laboratory examinations and a DNA analysis is done in 2010. She was told that she had Friedreich’s ataxia, an inherited ataxia that caused by the damage in the gene affecting the some of body’s nerves.

Getting to the root of the problem

According to Dr Rao, early intervention could help slow down the progression of the condition.

“Diagnosis can be started based on the person’s symptoms followed by a thorough physical examination and checking of genetic and family history.” Blood tests, MRI scans, and genetic tests also need to be done to identify the main cause of the condition.

Dr Rao says vitamin deficiency-related ataxia can be managed with supplements, and medications are available for cerebellar tremors and leg reflex loss.

Additionally, physical and occupational therapies can help slow down the progression of symptoms.

Balance and coordination exercises are effective and recommended for ataxia, Dr Maitri Rajyaguru, physiotherapist at ReWalk Reboot physiotherapy centre based in Ahmedabad told Happiest Health. “Based on the individual’s condition, age, type of ataxia, and symptoms, the physiotherapy is then customised to the person’s exact type of ataxia. We also consider the person’s requirement for treatment,” she adds.

Dr Rao adds that an ataxia-affected person may also experience depression, anxiety, low immunity, coordination, and spinal problems. “In such a situation, depending on the symptoms, we refer them to other experts like orthopaedics, psychologists, or therapists, in addition to a physiotherapist,” says Dr Rao.

Validating this, a 2017 study shows that a single approach is ineffective in treating ataxia; training and exercise approaches should be tailored to account for other aspects of the condition. “People within the age group of 15-30 years require 2 to 3 months of physiotherapy whereas older adults require 5 to 6 months of sessions for better results,” says Dr Rajyaguru.

She adds that physiotherapy can help those with ataxia manage symptoms, allowing them to live better lives with minimal pain and reduced reliance on others.

Wagh agrees that physical therapy helps slow down the condition. “I believe that accepting the condition and living life to the fullest is the mantra to lead a happy and positive life,” is her message to people with this rare condition.