Is Machado Joseph disease a form of Parkinson's disease?
Machado Joseph disease, also called spinocerebellar ataxia 3, is an inherited movement disorder. It is not a form of Parkinson's disease. Some people with spinocerebellar ataxia type 3 have symptoms that are similar to Parkinson's disease, such as such as slowness of movement, stiffness of the limbs and trunk, trembling hands, and impaired balance and coordination. These affected individuals may be described as having "parkinsonism," which refers to any condition that causes Parkinson's-type abnormal movements.
Last updated: 8/22/2016
What is spinocerebellar ataxia 3?
Spinocerebellar ataxia 3 (SCA3) is a rare, inherited form of ataxia. Signs and symptoms may begin between childhood and late adulthood and vary greatly. Symptoms may include slowly progressive clumsiness in the arms and legs; a manner of walking (gait) that may be mistaken for drunkenness; difficulty speaking and swallowing; impaired eye movements or vision; and lower limb spasticity. Some people with SCA3 develop dystonia or symptoms similar to those of Parkinson’s disease; twitching of the face or tongue; nerve damage (neuropathy); or problems with urination and the autonomic nervous system.
SCA3 is caused by a mutation in the ATXN3 gene and inheritance is autosomal dominant. There is no medication that slows the progressive course of the disease; management aims to relieve some symptoms and improve quality of life. Life expectancy ranges from the mid-30s for those with the most severe forms, to a nearly normal life expectancy for those with milder forms.
Last updated: 8/31/2016
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