What is Friedreich ataxia?

Below is the basic knowledge of Friedreich ataxia (loss of things), please consult.

What is Friedreich ataxia?

Friedreich ataxia, also known as ventricular ataxia, is a rare genetic disease that causes damage to the nervous system. The disease can lead to muscle weakness, movement problems (such as awkwardness, embarrassment), difficulty speaking or heart disease.

The disease is named after Dr. Nicholas Friedreich, who first described the disease in the 1860s. Ataxia is the term for problems of movement coordination and imbalance, occurring. in many different diseases and medical conditions. In Friedreich ataxia, nerve tissue in the spinal cord and nerves that control the movement of arms and legs degenerate. The spinal cord becomes thinner and the nerve cells lose some of the isolation layers (myelin, a complex protein and phosphorus lipid) that helps the nerves perform the pulses.

Who often suffers from Friedreich ataxia?

Men and women are at risk for the same disease. Symptoms usually start from 5 to 15 years old. and rarely start at the age of 18 or 30. You can limit your chances of disease by reducing risk factors. Please consult your doctor for more information.

Symptoms and signs of Friedreich ataxia

What are the signs and symptoms of Friedreich ataxia?

Chest pain is one of the symptoms of cashew disease.

1. The first symptom is often difficult to walk (loss of coordination). This condition gradually gets worse and spreads to the arm and then the body.
2. Early signs are deformities in the legs (crooked feet, unintended curled toes, hammered toe or toe toes). Muscle (especially in the legs, legs and arms) weakens.
3. Other symptoms include loss of reflexes (in the knees and ankles), loss of sensation in the limbs and can spread to other parts of the body. Patients are easily tired and become stuttering and speaking slowly. Rapid, rhythmic and unintended movements of the eyeball are also common. Most patients with scoliosis (one side spine) experience additional breathing problems.
4. Other symptoms (chest pain, shortness of breath, palpitations, tachycardia) are caused by heart disease. As the disease progresses, some patients have diabetes and some hearing or vision loss.

The progression of the disease varies from person to person but after many years from the first symptoms, the patient may have to be in a wheelchair. Most patients die at a young age if they have serious heart disease (the most common cause of death).

There may be other symptoms and signs not mentioned. If you have any questions about the signs of illness, consult your doctor.

When do you need to see a doctor?

You need to see your doctor if you see any of these signs or symptoms, or you:

1. Often falls or has difficulty swallowing, shortness of breath or chest pain.
2. Meet the symptoms of diabetes (thirst, urination, weight loss).
3. Genetic counseling is needed.

Causes of cashew diseases

What is the cause of Friedreich ataxia?

Friedreich ataxia may be a recessive genetic disease on the chromosome, meaning that the infected person must receive both mutated genes from their parents. Nerve tissue in the spinal cord and nerves control the degeneration of the arms and legs and cause motor problems.

In cases where the disease in the family history has never shown that there may be new genetic changes (mutations) that occur spontaneously. Friedreich ataxia is caused by a gene mutation commonly called X25 (also called frataxin) , a protein that must be present in the nervous system, heart, and pancreas. This protein is severely impaired in the body of Friedreich's ataxia.

The risk of developing ventricular disease

Friedreich ataxia is an inherited disease, so you are at risk if you have a family member who has it.

Treatment of Friedreich ataxia

The information provided does not replace the advice of health professionals. Always consult your doctor.

Until now, there is no method that can cure the disease . However, the treatment of symptoms and complications can help restore the patient's function as much as possible.

Medications can be used to treat diabetes and heart. Braces or surgery can be effective for foot deformities and scoliosis. Physiotherapy helps keep the body's functions.

What medical techniques are used to diagnose Friedreich ataxia?

The doctor will diagnose based on medical history and clinical examination. The neurologist will confirm the diagnosis. In addition, blood tests, MRI and neurotransmitters will be performed.

You can control your condition if you notice a few things:

1. Follow up on schedule to be monitored for the progress of your symptoms as well as your health status.
2. Listen to the doctor's instructions, do not arbitrarily take unspecified medication or arbitrarily drop the prescription in your prescription.