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.
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.
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.
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.
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.
The information on this site is for research purposes only and can not substitute for the advice of a medical professional. Ailments.com is not run by doctors and does not engage in the practice of medicine. Our site is not a medical authority, it is just a research tool for you to use in preparation for consulting with a doctor. We can not guarantee our information is accurate or up to date. Even if a statement made about a medical condition is accurate, it may not apply to you or your symptoms, so you should always consult a doctor. Nothing on our site should be construed as an attempt to offer or render a medical opinion or otherwise engage in the practice of medicine.
