Information on Cerebellar Ataxia

Ataxia generally refers to loss of movement and coordination, which can result from a damage, degeneration, or loss of nerve cells in the cerebellum. Cerebellum is a part of the human brain, which is responsible for controlling muscle coordination, balance, and movement. It is located at the base of the brain, near the brainstem.

Ataxia can manifest in unbalanced and uncoordinated body movements. Cerebellar ataxia can be acquired, or it can be genetic or hereditary. Acquired ataxia can be associated with conditions, that can damage the cerebellum and spinal cord.

Even conditions that damage the peripheral nerves, which connect cerebellum to the muscles, can cause ataxia. On the other hand, hereditary ataxia is usually associated with genetic mutations.

Acquired ataxia can have many different causes. Some of the most common conditions, that can cause acquired ataxia are given as follows.

Head Injury: Severe injury or a direct blow to the head, which might occur in car accidents, can cause considerable damage to the brain and spinal cord, and result in ataxia.

Viral Infections: Several viral infections, such as chickenpox, measles, and Coxsackie disease, can spread to the brain at times and cause ataxia. However, this is not a very common condition. If ataxia occurs as a complication of such viral infections, it usually resolves completely over time.

Cerebral Palsy: The term refers to a group of disorders, that can adversely affect the functions of the brain and nervous system, such as movement, learning, hearing, vision, and thinking. It is caused by a disruption in brain development, usually before a child is born, but can also occur at any time during the first 2 years of life.

Multiple Sclerosis: Multiple sclerosis (MS) is an inflammatory condition, characterized by the destruction of myelin sheath of the nerve cells. This condition can manifest in several symptoms, including loss of balance and coordination.

Other Possible Causes:
Other possible causes of acquired ataxia include, cancerous and non-cancerous tumors of the brain, exposure to certain toxic chemicals, such as lead, mercury, solvents, and some pesticides.

Also, bacterial infections, like meningitis or encephalitis, intake of certain medications, like benzodiazepines and barbiturates, alcohol and drug intoxication, deficiency of vitamin B12, and a rare disorder, known as paraneoplastic syndrome.

Hereditary ataxias are caused by genetic mutations, passed on through generations. Hereditary ataxia can be autosomal dominant ataxia, or autosomal recessive ataxia.

In case of autosomal dominant ataxia, the mutated gene is autosomal dominant and so, this type of ataxia can develop, when one receives a dominant gene from one parent. Spinocerebellar ataxias are autosomal dominant ataxias.

On the other hand, if the mutated gene is autosomal recessive, then one can develop ataxia, if he or she receives a mutated gene from each parent. If an individual receives only one of the mutated genes, the normal gene will cancel out the effects of the mutated gene and he or she will not develop ataxia. However, such an individual will act as a carrier.

When both the parents are carriers, then chances of receiving a pair of normal genes by the offspring is 25%. On the other hand, the chances of receiving one normal and one mutated gene and thus, acts as a carrier is 50%, while the chances of receiving a pair of the mutated genes and developing ataxia is 25%.

Friedreich's ataxia and ataxia-telangiectasias are the autosomal recessive ataxias, that are inherited in this manner.

Sometimes, the genes present in the mitochondria of a cell can also be mutated and because a child always inherits mitochondria from its mother, such mitochondrial ataxias are transferred only through the maternal link. Mitochondrial diseases can be inherited by autosomal dominant, autosomal recessive, or X-linked patterns of inheritance.

As far as X-linked ataxias are concerned, males are usually more affected than females, while the females act as carriers. This type of inheritance is rare.

The severity of symptoms vary from person to person. For some people, the symptoms get worse over time, while in case of others, they are mild. Following are some common symptoms.

• Uncoordinated body movements
• Unsteady gait and stumbling
• Uncoordinated eye movements
• Slurred speech
• Difficulty in eating and swallowing
• Vision and hearing problems

Sometimes, it is difficult to diagnose ataxia, since many neurological disorders can have similar symptoms. So, a neurologist may need a number of tests to diagnose this condition.

Brain Scan: CT scan and Magnetic Resonance Imaging (MRI) can give the images of cerebellum, and help determine whether the cerebellum is damaged.

Patient and Family history: These factors help in understanding whether ataxia is caused due to hereditary reasons or acquired factors. If the parents and grandparents have ataxia, the patient is likely to be suffering from autosomal dominant ataxia.

If parents are not affected, but at least one child has ataxia, then it might be a case of autosomal recessive inheritance.

Lumbar Puncture: This test involves inserting a needle in the lumbar region, between the two lumbar bones, in order to draw a sample of cerebrospinal fluid. This fluid is tested in the laboratory to find out the presence of infections and any other abnormality.

Genetic tests: These tests examine a sample of DNA, which help in diagnosing the type of inherited ataxia.

In addition to these, blood and urine tests are also carried out for the accurate diagnosis of ataxia.

The treatment for cerebellar ataxia depends on its specific cause. If the underlying cause is treatable, then treating the cause can help resolve the ataxia as well. If ataxia is caused by viral infections, like chickenpox, then it resolves on its own over a period of time.

But, if ataxia is caused by neurological degenerative conditions like, multiple sclerosis, then it might not be possible to cure ataxia. Adaptive devices, such as canes or walkers, communications aids, modified utensils, are usually recommended for individuals with severe ataxia, who have lost body movements and coordination.

Patients having abnormal eye movements and muscle spasms, are generally given medications. The problem with movement and coordination, can be managed to variable extents with the help of physical therapy. Physical therapy can help a lot in enhancing strength and movement of the affected individual.

Speech and swallowing problems can be solved to some extent, with the help of speech therapy. On the other hand, occupational therapy can help the affected individual perform his or her daily activities.

Cerebellar ataxia can develop at any age. If the condition is inherited, the patient may show the symptoms at an early age. The symptoms of hereditary ataxia usually develop gradually and then worsen over time, while the symptoms of acquired ataxia can develop all of a sudden.

Disclaimer: This story is for informative purposes only, and should not be considered as a substitute for professional medical advice.