Spino Cerebellar Ataxia

Spino Cerebellar 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 which are known to be hereditary and causes 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 co-ordination and abnormal speech. Because this condition affects the nervous system, it is also known as a nervous disorder.

What are the early signs of Spinocerebellar Ataxia?

The condition is normally found in early adulthood except in some rare cases when it can affect children. It may be associated with clumsiness early on. The ataxia is slowly progressive, which means the condition will gradually worsen over a period of time. It is ideal to show the doctor if you are experiencing imbalance or difficulty in performing normal movements or slurring of speech. This would help diagnose the condition early on.

There are various types of ataxias and based on the type, symptoms and how far progressed, the kind of treatment is devised. In recent times, stem cell therapy has been found to be one of the best methods of treating such conditions. Treatment followed by rehabilitation involving physiotherapy, occupational therapy and speech and language therapy would be effective.

Symptoms of Spinocerebellar Ataxia

Ataxia essentially is a symptom and not necessarily a disease. It means “in-coordinated movements.”
Below are a few symptoms which could help you detect SCA early on:

Incoordination in Ataxia
  • 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
Unsteady gait in Ataxia

Causes of Spinocerebellar Ataxia

The mutations in the dominant or recessive gene is the prime reason for the spinocerebellar ataxias. Spinocerebellar ataxias are mostly inherited and if it is in an autosomal dominant type, it may cause the progeny to contract the same. 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. These repeats do not always cause problems. Often, the higher the number of repeats, the earlier the onset and worse the symptoms will be.

 
Different types of Spinocerebellar Ataxia & associated symptoms

SCA1ACTIVE REFLEXES
SCA2Slow eye motion, sometimes loss of memory
SCA3Muscle weakness caused by atrophy. This condition is also called Machado – Joseph disease
SCA4Loss of sensation
SCA5Early onset
SCA6Very slow worsening of symptoms
SCA7Loss of vision
SCA8Active reflexes but loss of sensation
SCA10Occasional fits or seizures
SCA11Rare condition with very slow worsening of symptoms
SCA12Shivers and sometimes dementia
SCA13Short stature, minimal mental retardation
SCA14Tremors in the body
SCA15Very slow worsening of symptoms
SCA16Head tremors
SCA17Worsening of mental abilities
SCA18Shivers and sometimes dementia
SCA21Mild cognitive impairment
SCA22Slow worsening of symptoms
SCA23Slow worsening of symptoms, onset later in adulthood
SCA25Slow worsening of symptoms, onset anytime between 1-39 years

Treatment of Spinocerebellar Ataxia 

The best treatment options for SCA vary by type and often depend on the signs and symptoms present in each person. The most common symptom of SCA is ataxia (a condition in which coordination and balance are affected). Many people with SCA have other symptoms in addition to the ataxia such as tremors, stiffness, muscle spasms, and sleep disorders; medications or other therapies may be suggested for some of these symptoms. Stem cell therapy is fast gaining ground as a treatment method for spinocerebellar ataxia. Mesenchymal stem cells for the hereditary condition hold a new promise. Mesenchymal stem cells (MSCs) are multipotent adult stem cells and are capable of differentiating into various cell types, including mesodermal, ectodermal, and endodermal lineages.

Treatment of Spinocerebellar Ataxia at Plexus 

Treatment of Spinocerebellar Ataxia comprises of Stem cell therapy along with intensive Neuro-rehabilitation. Neuro-rehabilitation program at Plexus comprises of a multitude of therapies and approaches that focus on improving the neurological symptoms and disorders that affect functioning.

Physiotherapy for Spinocerebellar Ataxia  

Balance training in Ataxia

Treatment of Spinocerebellar Ataxia comprises of Stem cell therapy along with intensive Neuro-rehabilitation. Neuro-rehabilitation program at Plexus comprises of a multitude of therapies and approaches that focus on improving the neurological symptoms and disorders that affect functioning.

Trunk stability exercises for Ataxia
The aim of  physiotherapy intervention in SCA is to improve the gait of the individual as severe balance impairment can lead to an impaired gait in these patients. Gait training forms the crux of the physical therapy intervention which goes along with working on trunk stability and associated involuntary movements. Some patients also present with generalized muscle weakness and fatigue, so the aim of physiotherapy is to improve the strength and overall endurance of the individual. Core strengthening and locomotor exercises are known to improve balance in individuals with SCA. A graded but intense core strengthening program is designed for individuals with balance impairments.

Occupational Therapy for Spinocerebellar Ataxia:

The role of Occupational therapy in SCA is to improve the quality of performance of ADL activities. These activities are affected mainly due to impaired balance, tremors and incoordination. Balance training is an important aspect of occupational therapy intervention where the balance component is treated in the domain of indoor mobility and community mobility. Crossing door thresholds, maneuvering your way through the furniture, preventing falling, slipping and tripping while performing multitasking are some of the many aspects of indoor mobility that are treated with occupational therapy intervention. Apart from impaired balance, incoordination is another disabling symptom that affects performance in daily life tasks. Activity modification and compensatory techniques are taught to patients with severe incoordination in order to maintain independence in their daily life. Treatment of incoordination includes the performance of certain activities and exercises that improve coordination. Hand function training tasks and hand writing training helps in improving coordination in daily routine activities. If hand function is affected due to muscle imbalance in the hand which is leading to a “clawing” deformity then splinting the hand is important to control the deformity.
Functional balance training for Ataxia
Training for impaired hand functions in Ataxia
Hand writing training in Ataxia

Speech therapy for Spinocerebellar Ataxia:

The  progressive ataxias can lead to impairment in communication and/or swallowing functions. The most common communication difficulty seen is dysarthria, which is a speech disorder of motor origin that results in impaired quality of voice, speech clarity, naturalness and intelligibility. Communication may also be affected in patients where there is an associated cognitive deficit that affects language processing. Difficulty in swallowing is a commonly found in individuals with ataxia, particularly in advanced cases. Swallowing dysfunction or dysphagia may occur at any stage depending on the disease pathophysiology- the oral, pharyngeal and/or oesophageal stage of swallowing. In case of ataxic dysphagia there is reduced coordination of the muscles responsible for eating and drinking- the oro pharyngeal muscles. 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.
Speech therapy- oral muscle exercises for Ataxia
Speech therapy- Management of Swallowing dysfunction in Ataxia

Frequently asked questions

Can ataxia symptoms be temporary?

Symptoms can be sudden and brief (acute) or can occur slowly and be long-lasting (chronic). Cerebellar get progressively worse over time.

Can ataxia skip a generation?

The ataxia gene can skip generations and reappear later, which explains the effect of surprise in learning that we have transmitted the disease to our children.

Why do individuals with spinocerebellar ataxia experience loss of muscle control?

Most disorders that result in ataxia cause cells in the part of the brain called the cerebellum to degenerate, or atrophy. People with ataxia experience a failure of muscle control in their arms and legs, resulting in a lack of balance and coordination or a disturbance of gait.

Could ataxia get worse?

People with ataxia often have trouble with balance, coordination, swallowing, and speech. Ataxia usually develops as a result of damage to a part of the brain that coordinates movement (cerebellum). Ataxia can develop at any age.

What are the benefits of stem cell therapy in spinocerebellar ataxia?

Cellular therapy is a central dogma of regenerative medicine that has gained growing attention both from scientific as well as the medical community. Out of many known medical benefits of cellular therapies, regeneration, as well as repair, are the two most important ones.  Stem cell therapy can reverse the process of cellular aging through their regeneration as well as repair leading to reduction in the death of neurons and slowing down the progression of the disease.

For enquiries related to Spinocerebellar Ataxia and its treatment options, send a message to drnaeem@plexusnc.com

Glimpses of Spino Cerebellar Ataxia Treatment at Plexus

A Case Study…

Mr. D’s story

Mr. D, a 30 year old, businessman from Hyderabad came to us on a wheelchair as he was suffering from Spinocerebellar Ataxia from a period of 5 years. Due to severe incoordination, his gait was impaired which was also affected by the added effect of obesity. The major complaint was inability to walk and severe difficulty in doing daily life tasks. On a thorough assessment it was found that he had a broad based (ataxic) gait, the strength of his thigh and leg muscles had reduced, there were tremors in his hands while performing any activity, his hand writing had become illegible due to incoordination and daily routine activities had become impossible to perform mainly due to incoordination. He couldn’t eat independently, button his shirt, brush his teeth or go for a walk. His speech had become hoarse and incoherent and he had difficulty in breathing.

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