Friedreich’sataxiais a rare disease that affects yourcentral nervous system.
It impacts yourspinal cordand the nerves that transmit and receive messages between yourbrainand the rest of your body.
It also affects yourcerebellum, the part of your brain that controls movement and balance.
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This disease causes gradualmuscle stiffnessand loss of strength and feeling in your limbs.
Speech, hearing, and vision are also affected.
People get this disease from their parents.
Symptoms usually begin in the mid-teens.
There is no cure or single approved treatment for this problem.
This article describes Friedreich’s ataxia symptoms, causes, diagnosis, and treatment.
It affects about 1 in every 50,000 people in the United States.
Since the disease progresses at different rates, symptoms worsen at different speeds.
The amount of pain that accompanies Friedreich’s ataxia varies from person to person.
Some common complications of the disease, like foot deformities, can be painful.
Other conditions, like heart abnormalities and scoliosis, can cause chest pain and interfere with breathing.
Theperipheral nerve damagethat accompanies ataxia can also result in pain.
What Triggers Friedreich’s Ataxia?
Friedreich’s ataxia is an autosomal recessive disorder brought on by a defect in the FXN gene.
The risk of disease is the same for both males and females.
A defect in the FXN gene limits the production of frataxin.
This protein is important to the energy-producing properties of the cell.
The defect results in the degeneration of certain nerve cells, orneurons, which triggers symptoms of the disease.
Females whose symptoms begin after 20 years of age may have the most favorable prognosis.
Most people with Friedreich’s ataxia use a wheelchair within 10 to 20 years after their first symptoms occur.
it is possible to become completely debilitated in the later stages of the disease.
People with Friedreich’s ataxia can have a shortened life expectancy.
Death can occur fromaspiration pneumonia,stroke, or cardiac problems.
The disease progresses over time, though the rate at which it worsens is not the same for everyone.
Treatments can help control symptoms and manage the condition for as long as possible.
Your primary healthcare provider can help you identify the services you may need from your multidisciplinary team.
Ongoing research on Friedreich’s ataxia aims to develop treatments for this disease.
Studies are geared toward determining the cause of the FXN gene mutation and its function.
Summary
Friedreich’s ataxia is a genetic disease that causes a loss of movement and muscle control.
It takes place if you receive a damaged FXN gene from both parents.
This disease harms the nerves that talk to your brain about the rest of your body.
Symptoms worsen over time, though they don’t progress at the same rate in everyone.
It is common to need a wheelchair within 10 to 20 years after the onset of symptoms.
Females who have late-onset of symptoms tend to have the best prognosis.
A Word From Verywell
Getting a diagnosis of Friedreich’s ataxia can be overwhelming.
Addressing the emotional aspects of this disease can make a difference in coping with it.
National Institute of Neurological Disorders and Stroke.Friedreich ataxia.
American Academy of Ophthalmology.Friedreich ataxia.
National Organization for Rare Disorders.Friedreich’s ataxia.
Muscular Dystrophy Association.Friedreich’s ataxia (FRDA).
Friedreich’s Ataxia Research Alliance.What is Friedreich’s ataxia?
Food and Drug Administration.FDA approves first treatment for Friedreichs ataxia.
Children’s Hospital of Philadelphia.Friedreich’s ataxia.
