Machado-Joseph Disease Information Page
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What is Machado-Joseph Disease?
Is there any treatment?
What is the prognosis?
Is there Research Being Done?
What is Machado-Joseph Disease?
Machado-Joseph disease (MJD)-also called spinocerebellar ataxia type 3-is a rare hereditary ataxia. (Ataxia is a general term meaning lack of muscle control.) The disease is characterized 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 patients have dystonia (sustained muscle contractions that cause twisting of the body and limbs, repetitive movements, abnormal postures, and/or rigidity) or symptoms similar to those of Parkinson's disease. Others have twitching of the face or tongue, or peculiar bulging eyes. In Machado-Joseph disease and other spinocerebellar ataxias, degeneration of cells in an area of the brain called the hindbrain leads to deficits in movement. The hindbrain includes the cerebellum, the brainstem, and the upper part of the spinal cord. MJD is an inherited, autosomal dominant disease, meaning that if a child inherits one copy of the defective gene from either parent, the child will develop symptoms of the disease. persons with a defective gene have a 50% chance of passing the mutation on to their children.
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 A lot of years. Treatment with antispasmodic drugs, such as baclofen, can help reduce spasticity. Physiotherapy can help patients cope with disability associated with gait problems, and physical aids, such as walkers and wheelchairs, can assist the patient with everyday activities. Other problems, such as sleep disturbances, cramps, and urinary dysfunction, can be treated with medications and medical care.
What is the prognosis?
The severity of the disease is related to the age of onset, with earlier onset associated with a more severe form of the disease. Symptoms can begin any time between early adolescence and about 70 years of age. MJD is also a progressive disease, meaning that symptoms get worse with time. Life expectancy ranges from the mid-thirties for those with severe forms of MJD to a normal life expectancy for those with mild forms. For those who die early from the disease, the cause of death is often aspiration pneumonia.
Is there Research Being Done?
The National Institute of Neurological Disorders and Stroke (NINDS) supports research on MJD and other neurodegenerative diseases in an effort to learn how to better treat, prevent, and even cure these diseases. Ongoing research includes efforts to better understand the genetic, molecular, and cellular mechanisms that underlie triplet repeat diseases. Other research areas include the development of novel therapies to treat the symptoms of MJD, efforts to identify diagnostic markers and to improve current diagnostic procedures for the disease, and population studies to identify affected families.
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