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  Oct 18, 2018

Friedreich's Ataxia Signs

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Friedreich's ataxia is a hereditary disorder that leads to progressive and irreversible damage to the nervous system. Initial signs of the condition include problems with balance, speech and coordination and the illness can eventually lead to curvature of the spine, cardiac problems and diabetes.

Friedreich's ataxia was first described by a German physician Nicholaus Friedreich in 1863, after whom the disease is named.

Signs on examination

Some examples of signs that may be detected during a physical examination are described below:

  • Signs of cerebellar involvement include involuntary or rapid eye movement, difficulty speaking and impaired coordination.
  • Lower motor neuron involvement may be signified by absence of deep tendon reflexes.
  • Signs of dorsal column involvement include loss of proprioception and vibratory sensations.
  • Cardiac signs occur in about 90% of patients and include arrhythmia, heart murmurs and cardiomyopathy.
  • In around 20% of cases, patients also have diabetes.

The average age of death among people with Friedrich's ataxia is 35 years and the cause of death is usually cardiomyopathy. Women have a more positive outcome than men, with a 20-year survival rate of 100% compared with only 65% in males.

Sources