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Machado-Joseph Disease

What Are the Symptoms?

Machado-Joseph disease is characterized by:
 
  • Clumsiness and weakness in the arms and legs
  • Spasticity
  • A staggering, lurching gait easily mistaken for drunkenness
  • Difficulty with speech and swallowing
  • Involuntary eye movements
  • Double vision
  • Frequent urination.
 
Some patients have dystonia, which are sustained muscle contractions that cause:
 
  • Twisting of the body and limbs
  • Repetitive movements
  • Abnormal postures
  • Rigidity.
 
Some patients with Machado-Joseph disease will have symptoms similar to those of Parkinson's disease, while others will have twitching of the face or tongue, or peculiar bulging eyes. The severity of Machado-Joseph disease is related to the age that the disease first appears. The disease tends to be more severe in patients whose disease appears earlier. Machado-Joseph disease symptoms can begin any time between early adolescence and about 70 years of age.
 

Diagnosing Machado-Joseph Disease

Physicians diagnose Machado-Joseph disease by recognizing its symptoms and by taking a family history. Physicians will ask detailed questions about:
 
  • Family members who show, or showed, symptoms of Machado-Joseph disease
  • The kinds of symptoms these relatives had
  • The ages of disease onset
  • The progression and severity of symptoms.
 
A definitive diagnosis of Machado-Joseph disease can only be made with a genetic test. Unfortunately, many legal and ethical considerations, such as loss of health insurance and employment discrimination, may discourage some individuals with symptoms from getting tested. For the same reasons, many physicians recommend against genetic testing for those individuals who have a family history of the disease but do not show symptoms.
 
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