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Spinocerebellar Ataxia: Treatment, Cost and Side Effects

Last Updated: Mar 25, 2024

What is the Spinocerebellar Ataxia?

Spinocerebellar ataxia (SCA) is a collection of progressive, neurodegenerative diseases which are mainly genetic. The disease is often fatal and there is no cure for the disease. It is cause due to a dominant or a recessive gene mutation. In most cases the disease is not apparent until their child gets symptoms of the disease. The disease leads to degeneration of the brain cells thereby causing impairment of movement that are controlled by the cerebellum in the brain and often by the spinal cord too. The disease types due to gene mutation have been classified by SCA1 till SCA40. The symptoms of SCA vary depending upon the type of mutation and may include signs of poor hand-eye coordination, abnormal speech or dysarthria and uncoordinated gait. Other symptoms include difficulty in swallowing, muscle stiffness, weakness in muscles, involuntary eye movements, cognitive impairment followed by pain in the limbs, uncontrolled muscle tensing, tingling and numbness, muscle twitches and atrophy. There is no permanent treatment or cure for the disease. Only the signs and symptoms can be managed with the help of a few treatments. Physical therapy, medications and other therapies can be used to aid in the movement and for the ease of daily activities. Medication can be especially helpful for symptoms like sleep disorders, depression, stiffness, tremor, spasticity and a few more. Patient can seek help of the rehabilitation therapists also.

How is the Spinocerebellar Ataxia treatment done?

Research has found around 30 or more types of the rare disease, Spinocerebellar ataxia caused due to genetic mutations. Research for this terrible disease is an on-going process. The disease is an autosomal dominant one. The disease is diagnosed when symptoms are observed in a person. Thereafter, investigations are recommended which include MRI Scan, EMG, EEG and genetic testing also. Although there is no cure for the disease, attempts are made with the help of certain therapies and medication to ease the symptoms. Physical therapies are given to patients to train the uncoordinating muscles so that they eventually learn to do muscle movements easily. Patients are encouraged to use special devices like wheelchair, cane, walker or crutches. Muscle relaxants like Baclofen are used for the prevention of spastic contraction causing pain in the muscles. Some symptoms were observed to be improved after treatment with varenicline and zolpidem. A few other medications used to alleviate SCA symptoms are Gabapentin, Pregabalin, Buspirone, Tandospirone, TRH and Aminopyridine. Gabapentin medication is provided by the trade name of Neurontin which is an anti-seizure drug used to restore GABA (gamma-amino butyric acid) in the brain and spinal cord. Pregabalin is a drug available by the trade name Lyrica, is considered to be more potent medication for SCA. Medication with pregabalin has not shown any side effect yet in any patient. An anti-anxiety drug called BuSpar is used to boost serotonin activity thereby increasing dopamine and norepinephrine activity in the brain and spinal cord.

Who is eligible for the treatment? (When is the treatment done?)

If a child is observed having signs and symptoms of spinocerebellar ataxia like atrophy of the muscles, poor coordination of eyes and movements, pain in the limbs, involuntary jerking movements, rigidity and tremors and many other are recommended for diagnosis of the disease. If positive results are obtained from the tests, the patient is considered eligible for treatment. Also, if in an adult the signs and symptoms were not visible ever but the child bears the disease, the adult may pose the risk of getting attacked by the disease. In such a case he/she can undergo tests for the disease and in case the tests turn positive, he/she will be eligible for treatment.

Who is not eligible for the treatment?

If similar symptoms like muscle atrophy, uncontrolled eye movements, muscle rigidity or jerking movements can also be caused due to certain other reasons or diseases like Parkinson’s disease, Cerebral Palsy, spinal cord injury, tetanus, Meniere’s disease, alcohol withdrawal symptoms, Beriberi, Polio, Anorexia Nervosa and many more. So, if on diagnosis the symptoms caused are found to be occurring due to other reasons but SCA, such patients are not eligible for treatment of SCA.

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Are there any side effects?

Although treatment for Spinocerebellar Ataxia are reported to cause very little or no side effects, some medications do cause some side effects. Eg. Gabapentin is a drug known by the trade name Neurontin. The drug restores the level of gamma-amino butyric acid (GABA) neurotransmitter in the brain and spinal cord. Though it is considered quite safe causing least or no adverse effects but may cause some effects like fatigue, uncontrolled rolling movements of the eyes, weight gain, swelling in the ankles and dizziness. But these side effects have been observed to resolve on their own. Other medications like Pregabalin, Baclofen, Buspirone, Tandospirine, Thyrotropin Releasing hormone and Aminopyridine have been reported to show side effects like cognitive impairment, seizures, drowsiness, insomnia, gastrointestinal diseases, excess urination, irregular heartbeat and double vision. But these side effects are very rare and do not stay for too long.

What are the post-treatment guidelines?

Since there is no cure for the disease, the treatments are all to manage and alleviate the symptoms. So, the treatments must go hand in hand with some other therapies like physical therapies that will help in training the muscles for improved and controlled movements. The alleviation of the symptoms is done so that the daily activities are made easy for the patients. Patients can also take help of rehabilitation therapy that maximises their self-care abilities and delays the deterioration of the muscles to some extent. For impaired speech, there are therapists who help in improving behavioural and other communication impairments along with medications.

How long does it take to recover?

As already stated, complete cure of the disease is not possible. The treatments and therapies are only done to alleviate the signs and symptoms. It takes about 6 months to actually manage the symptoms and reduce them, thereby making daily activities easy to carry out.

What is the price of the treatment in India?

The price of Spinocerebellar ataxia ranges from Rs. 800 to Rs. 1,00,000 including consultation fees, special devices, medication and other therapies.

Are the results of the treatment permanent?

No, the results cannot be said permanent because the disease cannot be cured completely. All treatments are necessary only to manage the symptoms and aid in daily activities.

What are the alternatives to the treatment?

Spinocerebellar ataxia can be treated with few other measures too. Physical therapies like yoga, tai chi, Alexander technique and Feldenkrais have been proved to improve movements of muscles. Another physical therapy that involves subjecting the body to mild vibrations has been shown to increase blood circulation thereby facilitating muscle movements and overcoming stiffness and rigidity of muscles. Light exercises for improving balance, stabilizing and strengthening of the back and abdominal muscles are also recommended and are also considered quite effective. Ayurvedic treatments have also shown positive results with the use of Ayurvedic oils to massage on the scalp and taking herbal supplements as prescribed by the health care practitioner.

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Written ByDr. Arun Sharma MBBS,MS - General Surgery,MCh - Neuro SurgeryNeurology
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