What is 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 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.

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.

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:

• 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

What causes 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.

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 treatment does the Plexus program consist of?

The best treatment options for SCA vary by type and often depend on the signs and symptoms present in each person. At Plexus, intensive Neuro-rehabilitation is the mainstay treatment for this condition. 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  

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.

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.

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. Mr. D underwent a customized Rehabilitation program. The physiotherapy team set goals to improve his strength, endurance and gait while the occupational therapy treatment focused on improving his bed mobility, indoor mobility, hand functions and activities of daily living. For improving his speech and breathing functions, the speech therapist formulated a plan to improve the strength and coordination of his oral muscles, breath pressure and breathing capacity. Towards the completion of the treatment program, he started walking independently, he was able to perform his daily activities with a greater ease, his speech and swallowing functions improved to a great extent and he also lost significant amount of weight which also boosted his activity performance. His could walk with a narrow and more “normal” base of support, he started going to his workplace and his overall community mobility improved. He was able to enjoy his favorite meal without embarrassing himself with spillage, he could walk without being called a “drunkard” as his gait was no more a “drunken gait” and he could wear his favorite pair to shoes to work. Towards the time of discharge, Mr. D was trained to carry out the exercises and activities taught during the program, all by himself at home. In order to maintain his functioning it was important for him to continue the exercises and keep an eye on his weight.