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Friedreich’s ataxia: Treatment, symptoms, advice and help

About friedreich’s ataxia

Friedreich’s ataxia is a rare, genetic disorder characterised by enlargement of heart muscle and progressive in-coordination of body muscles, especially that of limbs, eyes and vocal cords. This is a degenerative disease which may result in distressing and debilitating complications.

Friedreich’s ataxia: Incidence, Age and Sex

Friedreich’s ataxia is a disorder rarely encountered in general population. It may occur in approximately 1 in every 25000 individuals. No clear cut gender bias has yet been documented.

Signs and symptoms of friedreich’s ataxia: Diagnosis

The signs and symptoms of Friedreich’s ataxia usually begin in early childhood and result from in-coordination in muscular movements. The lower limbs are mostly involved characterised by weakening of the muscles of the legs which may cause difficulty in walking, unsteady gait or even falls. Involvement of the eye muscles may result in sudden, jerky eye movements. Likewise, vocal cord muscles get affected leading to abnormal speech. Occasionally impairment of hearing and colour vision may also be encountered. Later stage of disease may show physical deformity involving spine (sideward or forward bending) and feet.

A detailed neurological examination by a specialist is mandatory which may reveal numbness, loss of vibration sense and reflexes in lower limbs. An examination by the eye specialist and cardiologist is also required. A detailed examination and investigation of heart may reveal arrythmias and overgrowth of heart muscle. Investigations like electromyography, nerve conduction studies and muscle biopsy usually helps in confirming the diagnosis. Other investigations like ECHO, ECG or CT scan of chest may be needed to detect cardiac changes, if any.

Causes and prevention of friedreich’s ataxia

Friedreich’s ataxia is an autosomal recessive genetic disorder. It results from a defect in the gene named Frataxin (FXN) located on the chromosome 9 which is responsible for muscular coordination. Since this inherited disorder is recessive, it requires defective gene from both the parents to get manifested in the individual.

Friedreich’s ataxia: Complications

Complications like cardiomyopathy, arrhythmias or even heart failure may be seen in patients with Friedreich’s ataxia. Moreover, diabetes mellitus may occur in an individual in the later stages of the disease. Lung infections may also be commonly encountered in affected individuals. The disorder usually results in partial or complete loss of physical movement of certain parts, more commonly lower limbs of the body.

Friedreich’s ataxia: Treatment

Friedreich’s ataxia is a lifelong disease which has no cure. It requires a multi-disciplinary approach involving neurologist, cardiologist, eye and hearing specialists for effective management. The treatment modalities include physical therapy, orthotic treatment and supportive care. Speech therapy is generally needed in individuals with abnormal speech. Orthotic devices like walkers or wheelchairs may be needed in some individuals who are unable to walk. Physical therapy may help in delaying the progression of muscle weakness. The entire treatment plan is designed to improve the general ability and help the individual lead an independent and fulfilling life. Symptomatic relief may be provided with oral hypoglycaemic and insulin injection for diabetes or hearing aids for individuals with impaired hearing. The disease is slowly progressive in nature. The affected individual with supportive care and regular check ups may be able to lead an independent life.

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