Spinocerebellar Ataxia Definition, Reason, Symptoms, Treatment & Prevention
Definition
Spinocerebellar ataxia is a collection of hereditary ataxia symptoms with a background of degenerative changes in the cerebellum of the brain and spinal cord. Ataxia is a disorder in terms of limb coordination, especially in terms of gait.
The cerebellum is the part of the brain that is responsible for controlling body movements. Disturbances in this part of the brain cause disturbances in body movements.
Spinocerebellar Ataxia Symptom
As mentioned, there are many types of spinocerebellar ataxia. Each type also shows distinctive signs and symptoms. However, in general it is difficult to differentiate between these types of spinocerebellar ataxia. Unfortunately, each type has symptoms of movement problems that will get worse over time.
These symptoms can also appear at any time, from the age of children or even after adulthood. Some of the complaints that may be felt by those with spinocerebellar ataxia are:
- ataxia, namely problems in terms of coordination and balance of movements
- uncoordinated gait
- poor hand-eye coordination
- speech problems (dysarthria)
- involuntary eye movements
- problems with eyesight
- difficulty processing, learning, and remembering information
- If there is damage to the motor neurons in the brainstem, symptoms of tongue atrophy, facial weakness, atrophy, and twitching of the temporalis muscles can occur.
- whereas disorders involving the upper motor neuron (UMN) can cause symptoms of hyper-reflex and spasticity
- If there is a problem in the peripheral nervous system, sensory and motor-related symptoms may occur
Spinocerebellar Ataxia Reason
Spinocerebellar ataxia is caused by a genetic mutation and is a disorder inherited from parents. However, in 25–40 percent of cases, the genetic disorder that occurs is still unknown.
There are dozens of types of spinocerebellar ataxia that have been identified. Each of these disorders has a different gene mutation. This gene mutation interferes with the normal function of the cerebellum and spinal cord, causing symptoms of ataxia.
Spinocerebellar ataxia is also an autosomal dominant disorder. That is, just one copy of the abnormal gene can cause disease complaints. If a person with this condition has children, there is about a 50 percent chance that the child will get the mutated gene from a parent with spinocerebellar ataxia.
Diagnosis
Gathering information and physical examination, especially abnormal neurological examination usually needs to be done to lead to the suspicion of spinocerebellar ataxia. Having a family history, especially parents, who have similar complaints can also be an indication of spinocerebellar ataxia.
If there is a suspicion of spinocerebellar ataxia based on the signs and symptoms that are felt, the doctor may recommend a genetic test. Genetic tests function to confirm the presence of spinocerebellar ataxia and the type suffered.
However, genetic testing is only useful if certain gene mutations that cause spinocerebellar ataxia have been found. It is currently estimated that genetic tests can detect approximately 60 percent of ataxia complaints that are inherited predominantly.
If the genetic cause of a type of spinocerebellar ataxia is not known, imaging tests may be considered. For example, a CT scan ( computed tomography scan ) or MRI ( magnetic resonance imaging ). Often, this examination shows atrophy or shrinkage of the brain cerebellum.
Spinocerebellar Ataxia Treatment
Currently, there is no treatment that can cure someone with spinocerebellar ataxia. Therefore, the treatment given is often aimed at dealing with disturbing complaints. For example, a patient may be referred for physiotherapy to train certain muscles and train the use of assistive devices (wheelchairs, canes, and so on) to help with mobility. Several types of drugs can also be recommended, especially to treat tremor, stiffness, muscle spasms, and sleep disturbances.
Prevention
Because it is genetic, there are no effective efforts to prevent spinocerebellar ataxia. Genetic testing before having offspring may be one way that can prevent the transmission of this disorder. Even though it must be admitted that this examination is quite expensive.