Neurological Disorders: Friedreich ataxia

Introduction

Friedreich ataxia (FA) is the commonest genetically determined ataxia and its mode of inheritance is AR (autosomal recessive).

It results from a mutation in chromosome 9 which causes deficiency of an important protein by name frataxin that is normally present in tissues and organs like nervous system, heart etc.

Who gets this disease?

It occurs in all races & ethnicities. Both boys & girls are affected. It is AR, means both parents must be possessing the genetic mutation for their kids to get this disease; also if both parents have this mutation then each of their child has 25% chance of developing the disease.

The disease usually starts manifesting during childhood or early adolescence but cases do occur outside this age range too.

What structures are involved?

Spino-cerebellar tracts, dorsal root ganglia, peripheral nerves, cranial nerves, heart etc are the organs & tissues that are commonly involved.

What are the clinical manifestations?

• Gait ataxia
• In coordination of the limbs & body
• High arching of the foot (pes cavus) clawing of the toes (hammer toe)
• Decreased deep tendon reflexes
• Up going big toe (babinski sign)
• Peripheral neuropathy findings in the extremities especially the feet (e.g. stocking distribution loss of sensation)
• Cardio myopathy
• Cardiac arrhythmias
• Cataracts
• Hearing deficits
• Scoliosis
• DM (Diabetes mellitus)

Patients will have progressively worsening course and eventually become wheel chair dependent.

Diagnosis

The below investigations are generally required for establishing the diagnosis as well as managing the cases;

• Genetic tests
• EMG/NCS (electromyography & nerve conduction studies)
• Blood tests like blood sugar, vitamin E etc
• Echocadiogram, EKG/ECG etc for heart
• Eye examination
• Audiometric tests for hearing etc

Treatment

FA is a degenerative neurological disorder without any cure so far. The treatment is supportive & symptomatic. Patient’s various symptoms like numbness, tingling etc are treated with medications. Physical & occupation therapy are given. DM & heart conditions are treated aggressively. Assistive devices and orthopaedic devices are necessary as disease advances.

A neurologist (pediatric and/or adult) is frequently involved in the care of patients with friedreich ataxia.



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