What is the definition of Friedreich’s ataxia?
Friedreich’s ataxia is a kind of autosomal recessive inherited disease
. It is named after the German physician Nikolaus Friedreich, who first described it in the 1860s.
Friedreich’s ataxia may lead to progressive damage to the nervous system. The rate of disease progression varies. The first indication
generally is difficulty walking (gait ataxia)
. With the progressing of the disease, muscles
will be weakened
, causing deformities
What are the symptoms of Friedreich’s ataxia?
The symptoms of Friedreich’s ataxia may include:
- Poor coordination.
- Hearing impairment.
- Vision impairment.
- Slow, slurred speech (dysarthria).
- Spinal curvature (scoliosis).
- Involuntary eye movements.
- Heart diseases including heart enlargement (cardiomyopathy) and heart failure.
What is the life expectancy for patients with Friedreich’s ataxia?
The life expectancy depends on the real situation of the patient
. Some cases of death are result from cardiac involvement
According to the study, cardiac involvement occurs in over 90%
of patients with Friedreich’s ataxia. the common length of prognosis after diagnosis is 35 years
. And females have better prognosis than males.
It should be noticed that early treatment of heart problems
for people with Friedreich’s ataxia can improve quality of life and survival
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