Machado-Joseph Disease

What is Machado-Joseph Disease?

Machado-Joseph disease (MJD), which is also called spinocerebellar ataxia type 3, is a rare hereditary ataxia. (Ataxia is a medical term meaning lack of muscle control.) The disease is characterised by clumsiness and weakness in the arms and legs, spasticity, a staggering lurching gait easily mistaken for drunkenness, difficulty with speech and swallowing, involuntary eye movements, double vision, and frequent urination. Some individuals also have dystonia (sustained muscle contractions that cause twisting of the body and limbs, repetitive movements, abnormal postures, and rigidity) or symptoms similar to those of Parkinson's disease. Others have twitching of the face or tongue, or peculiar bulging eyes.  Almost all MJD patients experience vision problems, including double vision or blurred vision, loss of the ability to distinguish colour and/or contrast, and inability to control eye movements.

Is there any treatment?

MJD is incurable, but some symptoms of the disease can be treated. For those patients who show parkinsonian features, levodopa therapy can help for many years. Treatment with antispasmodic drugs, such as baclofen, can help reduce spasticity. Botulinum toxin can also treat severe spasticity as well as some symptoms of dystonia. Speech problems and trouble swallowing can be treated with medication and speech therapy.  Physiotherapy can help patients cope with disability associated with gait problems.  Physical aids, such as walkers and wheelchairs, can assist with everyday activities.