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A detailed guide to Spinocerebellar Ataxia

Spinocerebellar Ataxia is a progressive, degenerative condition that is classified as a rare disease. As a genetic condition, it can be passed on by members of the family who carry the disease-causing genes without displaying any of the symptoms themselves. Patients with Spinocerebellar Ataxia experience symptoms like tremors and balance problems and typically require extensive support. Let’s take a closer look at how this condition manifests and what the best treatment options are.
A detailed guide to Spinocerebellar Ataxia
Understanding Spinocerebellar Ataxia
Understanding Spinocerebellar Ataxia

Spinocerebellar Ataxia, Spinocerebellar Atrophy, or Spinocerebellar Degeneration is a genetic disease caused by either a recessive or dominant gene. It refers to a group of ataxias that are known to be hereditary and cause harm to the cerebellum, the part of the brain which maintains balance and controls movements. Spinocerebellar Ataxia may result in non-coordinated gait, impaired hand-eye coordination, and abnormal speech. 

The treatment for SCA at Plexus aims to stop or slow down the progression of symptoms, improve balance, stability, and coordination. The best Spinocerebellar Ataxia treatment includes Stem Cell Therapy as well as extensive neuro-rehabilitation, including Physiotherapy, Occupational Therapy, and Speech and Language Therapy.

Symptoms of Spinocerebellar Ataxia

Symptoms of Spinocerebellar Ataxia

Spinocerebellar Ataxia is divided into 20 different subtypes, distinguished by numbers. The numbers do not indicate an increase in severity, but the order in which they are linked to a particular chromosome. For all the subtypes of Spinocerebellar Ataxia, patients will experience progressive difficulty with walking and voluntary movements. This is known as ataxia, which simply refers to uncoordinated movement of all kinds. There will also be difficulties with speech and swallowing.

Spinocerebellar Ataxia can manifest anywhere between adolescence and late adulthood, depending on the subtype. In general, the early signs of the condition include:

  • Trouble with balance and coordination
  • Involuntary eye movements
  • Poor hand-eye coordination
  • Balance and coordination problems
  • Speech abnormalities
  • Learning and memory problems
  • Loss of fine motor skills
  • Spasticity
  • Fatigue

In addition, several subtypes have their own unique symptoms.

  • SCA2 causes slow eye movements and may often involve dementia.
  • SCA4 causes sensory loss.
  • SCA5 manifests earlier than most subtypes, in the patient’s twenties and thirties. Disease progression, however, is slow.
  • SCA7 leads to vision loss.
  • SCA10, a rare subtype, can occasionally cause seizures.
  • SCA13, another rare subtype, manifests in childhood and leads to shorter stature and some mental retardation.
  • For several types of Spinocerebellar Ataxia, the disease can continue progressing for decades and the patient may have a normal lifespan. However, subtypes like SCA1, SCA2, and SCA3 have an average prognosis of 10-15 years.
Causes of Spinocerebellar Ataxia

Spinocerebellar Ataxia occurs because of genetic mutations of various kinds. When inherited in an autosomal dominant fashion, it is sometimes caused due to trinucleotide repeat expansions. A trinucleotide repeat is simply a repeated segment of DNA. When such repetitions occur more frequently than usual, they can lead to genetic disorders. The greater the number of repetitions, the more severe the condition, and the earlier the age of disease onset.

In autosomal dominant inheritance, each newborn has a 50% chance of inheriting the mutated copy of the gene. Other types of SCA happen due to autosomal recessive inheritance, and these cases typically manifest symptoms at an earlier age. Anticipation does not happen in autosomal recessive inheritance. It is also important to note here that the genetic cause of Spinocerebellar Ataxia remains unknown in 25-40% of the cases.

It is possible for families to test for many of the genes that cause Spinocerebellar Ataxia, particularly the risk of passing it on to a child. In cases where the gene cannot be identified, the doctor will recommend a CT scan or MRI to identify brain abnormalities typically observed in SCA patients.
Treatment for Spinocerebellar Ataxia at Plexus
Patients at Plexus undergo an intensive neuro-rehabilitation program for Spinocerebellar Ataxia. Therapists specialized in Vestibular Rehabilitation employ multiple treatment approaches to best address each patient’s neurological symptoms.
Physiotherapy exercises

Physiotherapy exercises

Our physiotherapy regime consists of various exercises to improve gait and stability and also enhance control over voluntary movements. Therapists guide patients through:

  • Balance training and vestibular rehabilitation
  • Trunk stability training
  • Core strengthening and locomotor exercises
  • Coordination training

Occupational Therapy exercises

Occupational therapies guide the patient through various exercises to improve their functionality when it comes to activities of daily living (ADL). In particular, it targets the incoordination and balance problems that are classic symptoms of Spinocerebellar Ataxia. Exercises commonly recommended include:

  • Balance training, especially as applied to indoor mobility and community mobility
  • Hand function training
  • Handwriting training
Occupational Therapy exercises
Speech Therapy exercises

Speech Therapy exercises

Speech therapists target dysarthria in patients with Spinocerebellar Ataxia which makes it hard for them to articulate clearly. They also use exercises to strengthen the oro-pharyngeal muscles that control eating and swallowing. Among the exercises recommended are:

  • Articulation exercises
  • Swallowing techniques
  • Strengthening exercises for oral musculature
  • Pronunciation exercises
  • Use of assistive communication devices

What our patients say

FAQs answered

Spinocerebellar Ataxia affects the working of the central nervous system and is thus classed as a neurological disorder.

Patients with Spinocerebellar Ataxia may exhibit a variety of cognitive problems related to learning, remembering, and decision-making.

Yes, as the Ataxia affects the cerebellum and brainstem, the patient may experience problems with vision and eye movement.

The rate of progression of Spinocerebellar Ataxia depends on the particular subtype the patient has and the age of disease onset.

Treatment options for Spinocerebellar Ataxia include Physical Therapy, Occupational Therapy, Speech Therapy, Stem Cell Therapy, Nutritive Stem Cell Therapy, and Neurorehabilitation.

Patients with Ataxia are advised to perform cardiovascular activity for overall health. Treadmill training is an effective sporting activity that improves balance and gait in addition to maintaining fitness levels.

A tailored rehabilitation program has been demonstrated to slow down the progression of Spinocerebellar Ataxia and improve coordination and balance.

Spinocerebellar Ataxia occurs due to damage to the cerebellum. As such, dehydration cannot cause Ataxia, though it may increase the likelihood of an onset of symptoms.

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