Ataxia is a neurological condition that causes a person to experience problems related to physical coordination, such as walking, talking, vision and swallowing. Ataxia is often caused by damage to a part of the brain called the cerebellum or damage elsewhere related to the body’s nervous system.
Symptoms that occur in people with ataxia depend on the type of ataxia itself, gene abnormalities generally cause ataxia starting from children to adults. Friedreich’s ataxia is also a progressive degenerative disease and can cause death in sufferers. More than 95% of sufferers of this disease must use a wheelchair at the age of 45 years. Deaths caused by Friedreich’s ataxia range from age 35-50 years.
Type of Ataxia
Here are some types of ataxia that you should know about, including:
- Acquired ataxia/Acquired: Symptoms appear after injury, trauma or other conditions that affect the brain or nervous system, such as in patients who have had a stroke
- Hereditary ataxia: The form of ataxia is inherited and problems with genes cause symptoms to arise for years
- Idiopathic late onset cerebellar ataxia: progressive damage to the cerebellum over time causes ataxia, although the reasons are not fully understood
Symptoms of ataxia
Symptoms of ataxia are usually first seen in problems with balance and coordination of the limbs. People with ataxia can compensate for the condition and lack of balance by giving a way of enough distance at each step. Further symptoms that can arise are slurred speech (dysarthria) and difficulty swallowing (dysphagia). In addition, the eyes of people with ataxia can move erratically from side to side or up and down (oscillopsia).
Other symptoms that you should also recognize are:
- Trembling hands
- Loss of sensation and strength in the limbs
- Bladder and intestinal problems
- Memory loss
- Anxiety and depression
The progression of the disease varies from person to person, but after years since the first symptoms, the patient may need to use a wheelchair. Most patients die at an early age if they have chronic heart disease (the most common cause of death for this disease).
In patients with advanced stages of Friedreich’s ataxia, the feet and feet will feel weak, making it difficult to walk. Weakening in the legs will continue to be paralysis and sufferers must use a wheelchair or just lie in bed. Weakening of the limbs will also occur in the hands, although weakening of the hands often arises after paralysis of the legs.
Causes of ataxia
Friedreich’s ataxia is a disease that can be inherited and carried by autosomal cells, which means the patient must get both mutation genes from his father and mother. Tissue nerves in the spinal cord and nerves that control the movement of muscles in the arms and legs that cause motor degeneration.
Friedreich’s ataxia is caused by a genetic mutation commonly called x25 (also called frataxin), a protein needed in the nervous system, heart, and pancreas. Protein will decrease in people suffering from Friedreich ataxia.
Aside from inheriting genetic problems or injuries, other causes of Friedreich ataxia, include:
- Bacterial infections including meningitis or encephalitis
- Viral infections such as smallpox or measles that spread to the brain
- Stroke, bleeding in the brain, transient ischemic attack
- Cerebral palsy
- Multiple sclerosis (MS)
- Alcohol abuse
- Underactive thyroid gland
- Exposure to poisons or pesticides
- Some drugs, including benzodiazepines for anxiety or sleep disorders
- Autoimmune conditions, including lupus
Diagnosis of ataxia
Examination methods that can be used to ensure Friedreich’s ataxia include:
- Nerve conduction examination. This test serves to measure the speed of nerve stimulation through nerve vessels. This test can provide information if there is nerve tissue damage. During the test, a pair of electrodes will be attached to a certain area of skin. One electrode functions as a stimulus, while the other electrode functions as a nerve stimulator.
- This test aims to get a picture of the condition of the heart using sound waves. The results of echocardiographic analysis in patients with Friedreich ataxia can show ventricular hypertrophy, septal hypertrophy, and hypertrophic cardiomyopathy.
- MRI scanning in patients with Friedreich ataxia is focused on the brain and spine. In patients with Friedreich ataxia, it can be found atrophy, especially in the cervical spinal cord.
- Electrocardiography (ECG). This examination serves to analyze the condition of nerve stimulation in the heart. ECG results in patients with Friedreich ataxia usually show ventricular hypertrophy and T wave inversion.
Until now there is no effective drug or therapy for Friedriech’s ataxia. However, many symptoms and complications can be treated to help patients maintain optimal body condition as long as possible.
Various supporting treatments that can be given to patients with Friedreich ataxia to help control the symptoms that arise include:
- Physiotherapist or occupational therapist
- Speech and language therapist
- Insulin to help treat diabetes related to Friedreich ataxia.
- Counseling and antidepressant drugs to treat depression due to Friedreich’s ataxia
Genetic examination in children with families at risk and a history of Friedreich’s ataxia can be done starting from before birth. In addition, genetic examinations on potential married couples, especially with a history of Friedrich’s ataxia in the family, can also be done. The aim is to predict the possibility of Friedreich’s ataxia in subsequent descendants of the couple.