NINDS Machado-Joseph Disease Information Page
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Is there any treatment?
What is the prognosis?
What research is being done?
Clinical Trials
Organizations
Related NINDS Publications and Information
Publicaciones en Español
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 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 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 color 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.
What is the prognosis?
The severity of the disease is related to the age of onset, with earlier onset associated with more severe forms of the disease.
Symptoms can begin any time between early adolescence and about 70 years of age. MJD is 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. The cause of death for those who die early is often aspiration pneumonia.
What research is being done?
The National Institute of Neurological Disorders and Stroke (NINDS) conducts MJD research in its laboratories at the National
Institutes of Health (NIH) and also supports MJD research through grants to major medical institutions across the country.
Ongoing research includes studies to better understand the genetic, molecular, and cellular mechanisms that underlie inherited
neurodegenerative diseases such as MJD. 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.
NIH Patient Recruitment for Machado-Joseph Disease Clinical Trials
| National Ataxia Foundation (NAF) 2600 Fernbrook Lane North Suite 119 Minneapolis, MN 55447-4752 naf@ataxia.org http://www.ataxia.org Tel: 763-553-0020 Fax: 763-553-0167 |
National Organization for Rare Disorders (NORD) P.O. Box 1968 (55 Kenosia Avenue) Danbury, CT 06813-1968 orphan@rarediseases.org http://www.rarediseases.org Tel: 203-744-0100 Voice Mail 800-999-NORD (6673) Fax: 203-798-2291 |
| Dystonia Medical Research Foundation 1 East Wacker Drive Suite 2810 Chicago, IL 60601-1905 dystonia@dystonia-foundation.org http://www.dystonia-foundation.org Tel: 312-755-0198 Fax: 312-803-0138 |
American Speech-Language-Hearing Association
(ASHA) 2200 Research Boulevard Rockville, MD 20850 actioncenter@asha.org https://asha.org Tel: 800-638-8255 Fax: 301-571-0457 |
| Family Caregiver Alliance/
National Center on Caregiving 180 Montgomery Street Suite 1100 San Francisco, CA 94104 info@caregiver.org http://www.caregiver.org Tel: 415-434-3388 800-445-8106 Fax: 415-434-3508 |
National Family Caregivers Association 10400 Connecticut Avenue Suite 500 Kensington, MD 20895-3944 info@thefamilycaregiver.org http://www.thefamilycaregiver.org Tel: 800-896-3650 Fax: 301-942-2302 |
- Machado-Joseph Disease Fact SheetMachado-Joseph Disease fact sheet developed by the National Institute of Neurological Disorders and Stroke (NINDS).
-
Study Finds Psychiatric Disorders are Common in People with Cerebellar Degeneration
September 2002 news summary on a study which found a high rate of psychological problems in patients with cerebellar disorders. -
Investigators Explore Selective Silencing of Disease Genes
October 2003 news summary on a method for selectively silencing disease genes.
Prepared by:
Office of Communications and Public Liaison
National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892
NINDS health-related material is provided for information purposes only and does not necessarily represent endorsement by or an official position of the National Institute of Neurological Disorders and Stroke or any other Federal agency. Advice on the treatment or care of an individual patient should be obtained through consultation with a physician who has examined that patient or is familiar with that patient's medical history.
All NINDS-prepared information is in the public domain and may be freely copied. Credit to the NINDS or the NIH is appreciated.
Last updated April 24, 2009
National Institute of Neurological Disorders and Stroke
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