Ataxia – Recognizing the Types and Symptoms

 

We all know how important the brain is for our very survival. Along with the Spinal Cord, it makes up our central nervous system. Each part of the brain is a perfect piece in the puzzle of our mind, connecting our body to the outside world. Therefore, when any sort of damage occurs to our brain –  no matter how minor  – every single feeling, thought, and function is affected.

This is seen in conditions such as Ataxia – a group of degenerative diseases of the nervous system. It is caused by damage to the cerebellum, the part of our brain responsible for maintaining balance and coordinating movement. It is typically progressive, meaning it can get worse with time.

Patients may experience problems with balance, walking, speaking, swallowing, vision, and tasks that require a high degree of control such as writing and eating.

Overview of the Disease

Doctors and researchers classify Ataxia into three main categories based on what they know about the cause. These categories are:

    Acquired Ataxia: Caused by external factors including trauma, vitamin deficiencies, exposure to alcohol or drugs, infections, or cancer

    Genetic Ataxia: Caused by a damaged gene that is passed down among family members

    Idiopathic Ataxia: Caused by progressive damage to the brain over time for reasons that are unclear to medical professionals

Types of Ataxia

Depending on the type, the symptoms may stay the same, get progressively worse, or slowly improve. The main types include:

Spinocerebellar Ataxia

Spinocerebellar Ataxia (SCA) is a genetic disease caused by either a recessive or dominant gene. Symptoms can present from just one mutated copy of the responsible gene in each cell, but some cases are caused by trinucleotide repeat expansions, where a section of DNA is repeated many times. It usually occurs in early adulthood but can occasionally affect children.

The best Spinocerebellar Ataxia treatment in Bangalore provides treatment options based on the four most common types: SCA1 (active reflexes), SCA2 (slow eye motion and loss of memory), SCA3 (Muscle weakness caused by atrophy, also called Machado–Joseph disease), and SCA6 (slow worsening of symptoms).

Symptoms can include:

•     Impaired hand-eye coordination
•     Frequent stuttering
•     Unsteady gait
•     Uncontrolled or repetitive eye movements
•     Trouble swallowing food
•     Slurred speech
•     Vocal changes
•     Headaches
•     Dizziness
•     Difficulty processing, learning, and remembering information
•     Friedreich's Ataxia

This is the most common type of genetic Ataxia. It is caused by an abnormality of a single gene called the Frataxin (FXN) gene. It is seen in 1 in every 50,000 people and typically develops between ages 5 and 15.

Symptoms can include:

•     Problems with balance and coordination
•     Increasingly slurred, slow, and unclear speech (dysarthria)
•     Increasing weakness in the legs
•     Difficulty in swallowing (dysphagia)
•     Abnormal curvature of the spine (scoliosis)
•     Total or partial vision loss and hearing loss
•     Diabetes
•     Thickening of the heart muscles (hypertrophic cardiomyopathy)
•     Loss of sensation in the hands and feet

Ataxia Telangiectasia

This is a comparatively rare type of hereditary Ataxia. Symptoms usually begin in early childhood, although they can develop later. These include:

•     Difficulty walking – most children need to use a wheelchair by around 10 years of age
•     Dysarthria and Dysphagia
•     Small spider-like clusters of red blood vessels in the corner of the eyes and on the cheeks (telangiectasias)
•     Weakened immune system – making patients more vulnerable to infections
•     Increased risk of cancer

Episodic Ataxia

This is a rare and unusual type of hereditary Ataxia where the patient experiences episodes of Ataxia but shows mild or no symptoms for the rest of the time. Episodes can last from several minutes to hours and are usually triggered by sudden movement, stress, exercise, caffeine, or alcohol.

Symptoms can include:

•     Problems with balance and coordination
•     Slurred, slow, and unclear speech (dysarthria)
•     Muscle spasms
•     Involuntary eye movements (nystagmus)
•     Vertigo, migraines, and tinnitus

A few other types of Ataxia include Mitochondrial (genetic — passes from mother to child), Sporadic Ataxia (acquired — symptoms appear out of nowhere), Idiopathic late-onset Cerebellar Ataxia (acquired at around 50 years of age and gets worse over time), and Ataxia due to vitamin E deficiency.

Treatment

There is no cure for Ataxia. However, the same supportive treatment can be offered for most, if not all, Ataxias.  

The best Spinocerebellar Ataxia treatment in Bangalore includes a holistic treatment plan comprising one or more of the following:

•     Stem Cell Therapy along with medications to control muscle, bladder, heart, and eye problems
•     An intensive neuro-rehabilitation program that includes:
•     Speech and language therapy to help with speech and swallowing problems
•     Physiotherapy to help with movement problems
•     Occupational therapy to help you cope with the day-to-day problems

It is important to remember that being diagnosed with Ataxia does not mean that your life is over. With some support, love, and therapy, patients can live independent, fulfilling lives.