About friedreich's tabes

What is friedreich's tabes?

Friedreich's Ataxia is a genetic, progressive, neurologic movement disorder that typically becomes apparent before adolescence. Initial symptoms may include unsteady posture, frequent falling, and progressive difficulties walking due to an impaired ability to coordinate voluntary movements (ataxia). Affected individuals may also develop abnormalities of certain reflexes; characteristic foot deformities; increasing incoordination of the arms and hands; slurred speech (dysarthria); and rapid, involuntary eye movements (nystagmus). Friedreich's Ataxia may also be associated with cardiomyopathy, a disease of cardiac muscle that may be characterized by shortness of breath upon exertion (dyspnea), chest pain, and irregularities in heart rhythm (cardiac arrythmias). Some affected individuals may also develop diabetes mellitus, a condition in which there is insufficient secretion of the hormone insulin. Primary symptoms may include abnormally increased thirst and urination (polydipsia and polyuria), weight loss, lack of appetite, fatigue, and blurred vision.

Friedreich's Ataxia may be inherited as an autosomal recessive trait. Cases in which a family history of the disease has not been found may represent new genetic changes (mutations) that occur spontaneously (sporadically). Friedreich's Ataxia results from mutations of a gene known as "X25" or "frataxin" located on the long arm (q) of chromosome 9 (9q13). In most affected individuals, the frataxin gene contains errors in the coded "building blocks" (nucleotide bases) that make up the gene's instructions. The symptoms and findings associated with Friedreich's Ataxia are thought to result primarily from degenerative changes of nerve fibers of the spinal cord as well as peripheral nerves, which are the motor and sensory nerves and groups of nerve cell bodies (ganglia) outside the brain and spinal cord.

What are the symptoms for friedreich's tabes?

Unsteady posture symptom was found in the friedreich's tabes condition

Friedreich’s Ataxia can be diagnosed between the age 2 and a person’s early 50s, but it’s most commonly diagnosed between ages 10 and 15.

Difficulty with walking is the most common initial symptom of the condition. Other symptoms include:

  • vision changes
  • loss of hearing
  • weak muscles
  • lack of reflexes in your legs
  • poor coordination or lack of coordination
  • speech problems
  • involuntary eye movements
  • foot deformities, such as clubfoot
  • difficulty sensing vibrations in your legs and feet

Many people with this condition also have some form of heart disease. Approximately 75 percent of people with Friedreich’s Ataxia have heart abnormalities. The most common type is hypertrophic cardiomyopathy, a thickening of the heart muscle.

The symptoms of heart disease might include heart palpitations, chest pain, dizziness, light-headedness, or shortness of breath. Friedreich’s Ataxia is also associated with a greater risk of developing diabetes.

What are the causes for friedreich's tabes?

Friedreich’s ataxia is a genetic disorder that’s inherited from both parents by what’s called “autosomal recessive transmission.” The disease is linked to a gene called FXN. Normally this gene will cause your body to produce up to 33 copies of a specific DNA sequence.

In people with Friedreich’s ataxia, this sequence may repeat 66 to over 1,000 times, according to U.S. National Library of Medicine’s Genetics Home Reference.

When production of this DNA sequence spirals out of control, severe damage to the brain’s cerebellum and the spinal cord can result.

People with a family history of Friedreich’s ataxia are at greater risk of inheriting this disease. If the defective gene is only passed down from one parent, the person becomes a carrier of the disease but usually doesn’t experience symptoms of it.

What are the treatments for friedreich's tabes?

Friedreich’s ataxia can’t be cured. Your doctor will treat underlying conditions and symptoms instead. Physical therapy and speech therapy can help you function. You may also require walking aids to help you move around.

Braces and other orthopedic devices or surgery might be necessary if you develop a curved spine or problems with your feet. Medications may be used to treat heart disease and diabetes.

What are the risk factors for friedreich's tabes?

Having a parent who is a carrier or who has the disease

Is there a cure/medications for friedreich's tabes?

Over time, Friedreich’s ataxia becomes worse. About 15 to 20 years after symptoms emerge, many people with Friedreich’s ataxia have to rely on a wheelchair. Those who have advanced ataxia might not be able to get around at all.

Heart disease is the leading cause of death among people with Friedreich’s ataxia. It usually becomes fatal by early adulthood. People with mild ataxia symptoms generally live longer.

Late-onset Friedreich’s ataxia, which is when the disorder emerges at age 25 or over, tends to be milder and characterized by slower decline.

Friedreich’s ataxia leads to diabetes in about 10 percent of people who have it. Other complications include heart failure, scoliosis, and difficulty digesting carbohydrates.

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