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Spinocerebellar Ataxia Type 3, also known as Machado-Joseph Disease (MJD), is an extremely rare hereditary ataxia, which means a lack of muscle control. This is caused by degeneration of cells in the hindbrain.[1]. Some symptoms, such as clumsiness and rigidity, make MJD commonly mistaken for drunkenness and/or Parkinson's disease.
Classification
There are many kinds of Spinocerebellar ataxia. There are three types of MJD.[citation needed] They differ in the age of onset and range of symptoms. Type 1 is the most severe, with symptoms occurring between the ages of 10 and 30. Common symptoms of Type 1 are severe dystonia and rigidity. Type 2 symptoms are generally noticed between the ages of 20 and 50, with common symptoms being uncontrollable muscle contractions and exaggerated reflex responses. People diagnosed between the ages of 40 and 70 generally have Type 3, which includes muscle twitching and sensations including cramps and tingling. Most MJD patients have diplopia (double vision) and no control over their eye movements.
Causes
Officially, MJD is movement disorder, caused by the death of cells in the hindbrain. It is an inherited dominant disease, meaning that if either parent gives the defective gene to a child, the child will show symptoms of the disease. It is caused by a genetic protein mutation on chromosome 14q.
Diagnosis
Doctors diagnose MJD by observing the symptoms of MJD and then testing the family history. They interview family members about others showing, or who showed, symptoms of the disease and the time frames they showed their symptoms. However, the only way to be perfectly sure of the diagnosis of MJD is with a genetic test.
Treatments
There is no cure for MJD, however, various symptoms of it can be treated. The Parkinsonian symptoms can be treated with levodopa therapy. Also, the spasticism can be treated with antispasmodics such as baclofen. Eye surgery is relatively ineffective due to the degeneration of eye muscles, yet prism glasses can reduce diplopic symptoms. Physiotherapy can help patients deal with disability due to gait problems. Walkers and wheelchairs can greatly help the patient with everyday tasks.
Research
[] References
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