Friedreich S Ataxia

Friedreich's ataxia is an inherited neurological disorder characterized by progressive cerebellar ataxia, motor impairment, and sensory loss in the lower extremities.

The disease was first described by the German physician Nikolaus Friedreich in 1863, which is why it bears his name. Friedreich's ataxia is inherited in an autosomal recessive manner and is associated with a mutation in the FXN gene, which encodes the frataxin protein.

The main symptoms of Friedreich's ataxia:

1. Progressive cerebellar ataxia - impaired coordination of movements and balance

2. Dysarthria - articulation disorder

3. Motor disorders in the lower extremities - weakness, muscle spasticity

4. Loss of deep sensation in the lower extremities

5. Scoliosis

6. Diabetes mellitus (in 30% of patients)

7. Heart disorders (cardiomyopathy)

Treatment for Friedreich's ataxia has not been developed to date; therapy is aimed at reducing symptoms and improving the quality of life of patients. The prognosis for this disease is unfavorable, life expectancy is reduced to 30-40 years.

What is ataxia?

This is a condition in which the vestibular system and coordination of movements in general are affected. It manifests itself in unsteadiness when walking, lack of stability in movement, poor coordination and uncertainty when moving. In severe cases, in some cases, a person cannot simply get out of bed without assistance.