Machado–Joseph disease

Machado–Joseph disease (pronunciation: muh-CHAH-doh JOH-sef disease) is a rare, inherited neurodegenerative disorder that affects the muscles and nerves.

Etymology

The disease is named after two families of Portuguese-Azorean descent, the Machado and Joseph families, in which the condition was first identified in the 1970s.

Definition

Machado–Joseph disease is characterized by an abnormal repetition of a specific genetic sequence. This repetition leads to the production of an abnormally long version of a protein called ataxin-3. The accumulation of this protein in the brain leads to the degeneration of nerve cells, causing the symptoms of the disease.

Symptoms

The symptoms of Machado–Joseph disease include ataxia, a lack of muscle control or coordination of voluntary movements, dystonia, a state of abnormal muscle tone resulting in muscular spasm and abnormal posture, and parkinsonism, a condition that causes movement abnormalities similar to those seen in Parkinson's disease.

Diagnosis

Diagnosis of Machado–Joseph disease is based on clinical observation of symptoms, family history, and genetic testing. Genetic testing can confirm the presence of the abnormal ataxin-3 gene.

Treatment

There is currently no cure for Machado–Joseph disease. Treatment is focused on managing symptoms and improving quality of life. This may include physical therapy, occupational therapy, and medication to manage specific symptoms.

Prognosis

The prognosis for individuals with Machado–Joseph disease varies. The disease progresses at different rates in different people, and the severity of symptoms can also vary widely.

See also

• Neurodegenerative disorders
• Genetic disorders
• Ataxia
• Dystonia
• Parkinsonism

External links

• Medical encyclopedia article on Machado–Joseph disease
• Wikipedia's article - Machado–Joseph disease

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