The information on this website is not intended for diagnosis or treatment. Please consult your physician for health concerns.

+90 850 321 50 00

Friedreich Ataxia

An inherited progressive ataxia that begins in childhood and adolescence.

Written by: Saygı Hospital Health Guide Editorial Board
Last updated:

This content has been compiled by the Saygı Hospital Health Guide Editorial Board and is periodically reviewed by a specialist physician.

References (5)

This content is for informational purposes only and does not constitute medical advice. You can book an appointment at our Nöroloji department. Book Appointment →

What is Friedreich Ataxia?

Friedreich ataxia is the most common inherited ataxia, transmitted as autosomal recessive due to GAA trinucleotide repeat expansion in the FXN gene. It is characterized by degeneration of the spinal posterior columns and cerebellar pathways.

First symptoms usually appear between 5 and 15 years of age. Gait imbalance, clumsiness, and progressive ataxia are prominent. Hypertrophic cardiomyopathy, diabetes, and skeletal deformities frequently accompany.

Diagnosis is established by clinical, genetic, and ancillary tests. Treatment is symptomatic; however, newly developed specific drugs have shown promising results.

Symptoms

Progressive gait ataxia
Clumsiness and loss of fine motor skills
Dysarthria
Loss of deep tendon reflexes
Babinski positivity
Scoliosis and pes cavus
Cardiomyopathy symptoms

Risk Factors

Autosomal recessive inheritance
Consanguinity
Family history of similar disease
FXN GAA repeat expansion
Specific ethnic background
Coexisting diabetes or heart disease
Early neurologic symptoms

When to See a Doctor?

If you experience any of the following symptoms, seek medical attention promptly:

  • Progressive ataxia in a child or adolescent
  • Balance disturbance and clumsiness
  • Cardiac complaints accompanying
  • Scoliosis and foot deformities
  • Family history of similar cases

Treatment Methods

01
Specific drugs (such as omaveloxolone)
02
Symptomatic treatment
03
Physical therapy and balance exercises
04
Orthotics and assistive devices
05
Cardiology follow-up and treatment
06
Family and genetic counseling

Which Department to Visit?

You can visit our Nöroloji department for these complaints. Our specialist physicians will create the most suitable treatment plan for you.

Learn About Nöroloji Department

Let us help you

You can make an appointment with our specialists or contact us for your concerns.

Book AppointmentContact Us

Related Health Topics

Other articles from the same department you may want to explore.

Headache and Migraine

Nöroloji

What you need to know about headache types, migraine attacks, and triggering factors.

Low Back Pain

Nöroloji

Learn about the most common causes of low back pain, risk factors, and appropriate treatment approaches.

Neck Pain and Cervical Disc Herniation

Nöroloji

Learn about the symptoms and treatment options for cervical disc herniation and problems in the neck region.

Epilepsy

Nöroloji

Accurate information about epilepsy, types of seizures, and recommendations for patients and families.

Parkinson Disease

Nöroloji

Parkinson disease is caused by progressive degeneration of dopaminergic neurons and alpha-synuclein accumulation; well-timed therapy substantially improves function and quality of life.

Alzheimer's Disease and Dementia

Nöroloji

Information about early signs, diagnosis, and the care process for Alzheimer's and other types of dementia.

Multiple Sclerosis (MS)

Nöroloji

What is multiple sclerosis, who is at risk, and which treatments are applied?

Stroke

Nöroloji

What is stroke, what are the FAST signs, and why is emergency intervention critical?

Health Disclaimer: The information on this page is prepared for general informational purposes only. It does not replace medical diagnosis and treatment. Please consult your physician for your complaints. Saygı Hospital does not accept responsibility for actions taken based on the information on this page.