Everything you need to know About Spinocerebellar Ataxia

 

You are in a meeting, delivering a presentation. There’s a sudden sense of imbalance and your speech starts slurring. Your breathing becomes uncomfortable and you collapse on the floor. The world suddenly changes dimension and your vision is blurred.

This helplessness can be a core symptom of Spinocerebellar Ataxia (SCA). The symptoms can occur suddenly as a brief episode, or occur slowly and last a lifetime as a chronic episode. This disease worsens over time. People affected by it experience different types of loss of control, such as failure of muscle control, lack of balance, and coordination.

Before we tell you more about this disease, let us understand a little more about what it really means to have Spinocerebellar Ataxia. The most common symptoms are:

• 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

Causes

But, what causes this disease? The prime reason for the occurrence of Spinocerebellar Ataxia is the mutations in dominant or recessive genes. This disease is mostly inherited. Symptoms can be induced 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. In fact, the disease can skip a generation and reappear again.

Types

Is Spinocerebellar Ataxia only of a single type? No. In fact, there are 25 different variants, each with its own set of symptoms:

SCA1 — Active reflexes
SCA2 —  Slow eye motion, sometimes loss of memory
SCA3 —  Muscle weakness caused by atrophy
SCA4 —  Loss of sensation
SCA5 —  Early-onset
SCA6 — Very slow worsening of symptoms
SCA7 —  Loss of vision
SCA8 —  Active reflexes, but the loss of sensation
SCA10 —  Occasional fits or seizures
SCA11 —  Rare condition with very slow worsening of symptoms
SCA12 —  Shivers and sometimes dementia
SCA13 —  Short stature, minimal mental retardation
SCA14 —  Tremors in the body
SCA15 —  Very slow worsening of symptoms
SCA16 —  Head tremors
SCA17 —  Worsening of mental abilities
SCA18 —  Shivers and sometimes dementia
SCA21 —  Mild cognitive impairment
SCA22 —  Slow worsening of symptoms
SCA23 —  SCA22, onset later in adulthood
SCA25 —  SCA22,  onset anytime between 1-39 years

Treatment

Medical Science has made advancements to help patients with Spinocerebellar Ataxia find some relief and comfort despite the adversities. There are certain treatments possible for this disease which include Stem Cell Therapy and an intensive Neuro-rehabilitation program. The rehabilitation program is known for its wide range of therapies and improvement-oriented approaches that focus on neurological symptoms and disorders that impact functioning directly.

What are the different kinds of therapy that is used for bringing relief?

• Physiotherapy for Spinocerebellar Ataxia
              This includes balance training and trunk stability exercises. These exercises help in improving the gait and balance of the individual. Gait training is associated with involuntary movements. The overall aim of physiotherapy is to enhance the strength and overall endurance of the individual. Core strengthening and locomotor exercises help in improving balance in individuals. 
• Occupational Therapy          
              This includes functional balance training for impaired hand functions, and for handwriting. This therapy is used to improve impaired balance, tremors, and incoordination. In occupational therapy, balance is considered the domain for indoor mobility and community mobility. Actions such as walking through furniture, crossing doors, preventing falling or tripping during indoor mobility, etc are treated in this therapy. This therapy helps the patients to perform daily activities with comfort and minimum assistance.
• Speech Therapy        
              Spinocerebellar Ataxia can cause issues with communication or swallowing. The most common one is dysarthria, a speech disorder of motor origin. It affects the quality of voice, speech clarity, and intelligibility. Speech and language therapy in ataxia focuses on educating the patient and the caregivers about the expected risks involved, the proper methods of swallowing to prevent choking and improving the strength of the oral musculature, improving breathing, speech and swallowing functions. 

Apart from these, under the Regenerative Rehabilitation Program, Stem Cell Therapy for the treatment of SpinalCerebellar Ataxia is also used and can help reverse the condition. Stem Cell Therapy is a drugless, painless, non-surgical procedure where stem cells, that have the ability to regenerate and replace damaged cells, are injected in the affected area. Armed with the power of regeneration, stem cells have shown positive results in managing and mitigating the adverse effects and complications of Spinocerebellar Ataxia. Stem Cell Therapy is emerging as one of the best forms of treatment for SCA.