Friedreich’s ataxia (FA) is a progressive genetic disease that affects the nervous system and muscles, causing movement problems. Other symptoms include a continued loss of strength and sensation in the arms and legs, muscle stiffness, and impaired speech. Some people develop diabetes, vision and heart problems, or scoliosis (an abnormal curvature of the spine).

Although there is no cure for FA, there are treatments that may help control its symptoms, such as surgical procedures for severe cases of scoliosis, foot deformities, swallowing difficulties, or heart conditions.

Surgical procedures for scoliosis

Scoliosis is the abnormal curvature of the spine to one side that some people with FA develop due to loss of muscle strength.  It is common in people with FA. A study with 77 participants with FA, 49 (63%) of the participants were diagnosed with scoliosis. Those who went through surgery had a high rate of success and also maintained correction after surgery. The use of braces for scoliosis correction, however, does not bring the best results.

Surgery is usually recommended in the most severe cases and is usually done at a young age because as FA develops, heart conditions also may develop, making surgery riskier.

Surgical procedures for foot deformities

Foot deformities such as pes cavus, or high arch, and club foot that cause pain or affect the mobility of people with FA may be corrected with surgery. Surgery may also relieve pain and re-balance muscle forces across the foot, helping the patient’s gait and preventing the progression or recurrence of the deformity. This is usually done by releasing joint and lengthening tendons, transferring over-powerful and mechanically advantaged tendons to weaker and disadvantages ones, dividing and re-aligning bones, stabilising with plaster or internal fixation or fusing stiff and painful joints.

Surgical procedures for swallowing difficulties

Swallowing difficulties, also called dysphagia, can sometimes cause FA patients to be unable to get enough nutrients. In such cases, a surgical procedure called gastrostomy may be recommended. This is an opening made directly in the stomach through the abdomen, where a feeding device is inserted. This way, the patient can be fed directly into the stomach without the food having to go through the mouth and throat.

Heart surgery for FA

Cardiomyopathy is a heart disease that frequently develops in people with FA where the heart muscle becomes enlarged, thickened, and weakened.

There are different types of surgery to treat cardiomyopathy, such as:

  • Septal myomectomy, where a part of the thickened septum is removed to improve blood flow through the heart and to the body. If needed, the mitral valve can also be repaired or replaced;
  • Implanted devices, such as a pacemaker to improve heart function and symptoms;
  • Heart transplant, where the heart of the FA patient is replaced with a healthy heart from a deceased donor. A heart transplant is usually the last resort.

Anesthesia in people with FA

There may be some concerns with using anesthesia in people with FA, as they might have associated conditions heart and lung disease, diabetes and neuromuscular degeneration. These patients are vulnerable to some types of anesthetics and are sensitive to some muscle relaxants. Different procedures may require different anesthesia techniques to prevent complications.

 

Note: Friedreich’s Ataxia News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.