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Friedreich’s Ataxia

Overview

Friedreich’s ataxia is a rare inherited neurological condition caused by trinucleotide (GAA) mutation in the Frataxin gene. It causes difficulty in walking with imbalance, speech disturbance, and multiple systemic complications.

The symptoms usually start in childhood or adolescence and gradually worsen. They may include:

  • Pyramidal weakness
  • Gait ataxia (difficulty walking)
  • Optic atrophy (vision problems)
  • Deafness
  • Axonal peripheral neuropathy
  • Altered eye movements: nystagmus, hypometric saccades, macrosaccadic square wave jerks, and/or broken pursuit
  • Skeletal abnormalities: high arched foot, spinal deformities like scoliosis
  • Diabetes or glucose intolerance
  • Heart problems such as ECG alterations

The condition is caused by a trinucleotide (GAA) mutation in the frataxin gene, leading to reduced levels of frataxin protein in the mitochondria (the energy-producing part of the cell). This affects nerve and muscle function. Factors that can contribute to or worsen ataxia (loss of balance and coordination) include:

  • Family history of Friedreich’s ataxia
  • Chronic and excessive alcohol intake
  • Hypothyroidism or hypoparathyroidism
  • Multiple sclerosis
  • Celiac disease
  • Sarcoidosis
  • Cancer-triggered paraneoplastic syndrome
  • Multiple system atrophy
  • Anti-seizure sedatives and medications
  • Exposure to heavy metals (mercury or lead), or solvents (paint thinner)
  • Deficiency of vitamin E, B6, B12, or B1
  • Excess intake of vitamin B-6

Diagnosis involves a combination of clinical evaluation and investigations:

  • Clinical examination for coordination, balance, and reflexes
  • Electrophysiological testing for peripheral neuropathy
  • ECG (echocardiogram) for heart evaluation
  • Blood tests for glucose levels, vitamin E levels
  • X-ray for spinal deformities (scoliosis)
  • MRI/CT scan for brain and spinal cord
  • Genetic testing to confirm the frataxin gene mutation

There is no cure, but treatment focuses on managing symptoms and improving quality of life:

  • Physiotherapy, gait training to improve mobility and prevent stiffness
  • Surgical procedures for ankle contractures (tightening of muscles)
  • Orthosis and assistive devices for walking support
  • Medications and monitoring for managing cardiac complications
  • Newer therapy: Omaveloxolone (currently not available in India) 

Seek medical attention if a child or young adult develops:

  • Frequent imbalance or unexplained falls
  • Progressive difficulty in walking or speaking
  • Family history of Friedreich’s ataxia 

Since Friedreich’s ataxia is a genetic disorder, it cannot be prevented. However, genetic counselling helps families understand the risk before planning to have children.

For diagnosis and management of Friedreich’s ataxia, consult a Neurologist (specialist in brain and nerve disorders).

Disclaimer:

The information in this Health Library is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always consult a qualified healthcare professional with any questions about a medical condition or before starting any treatment. Use of this site and its content does not establish a doctor–patient relationship. In case of a medical emergency, call your local emergency number or visit the nearest emergency facility immediately.