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Machado-Joseph Disease

Machado-Joseph Disease Causes

Machado-Joseph disease is a genetic disorder caused by a mutation in the ATXN3 gene located in chromosome 14. It is inherited via the autosomal dominant pattern. According to DNA studies, Machado-Joseph disease is the most common and the most widespread hereditary form of ataxia in the world.

Machado-Joseph Disease Definition

Machado-Joseph Disease pertains to a rare type of hereditary spinocerebellar ataxia characterized by ophthalmoplegia, mixed sensory and cerebellar ataxia, and general lack of muscle control. It is also alternatively known as Spinocerebellar ataxia type 3.

Machado-Joseph Disease Diagnosis

Machado-Joseph Disease can be diagnosed on the basis of physical symptoms and family history. A genetic test may be done for a definitive diagnosis.

Machado-Joseph Disease Symptoms and Signs

Common symptoms of Machado-Joseph Disease include: speech and swallowing difficulties; spasticity; limb weakness; frequent urination; as well as involuntary eye movements. These symptoms first appear in early adolescence and progress or worsen over time. In some cases, Machado-Joseph Disease might lead to paralysis; however, most affected individuals usually maintain average intelligence or normal intellectual functions.

Machado-Joseph Disease Treatment

There is currently no specific treatment that can cure Machado-Joseph Disease. Therapy is mostly focused on alleviating some of the symptoms. The spasticity, for example, can be diminished with antispasmodic drugs like baclofen.

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