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NINDS Disorders is an index of neurological conditions provided by the National Institute of Neurological Disorders and Stroke. This valuable tool offers detailed descriptions, facts on treatment and prognosis, and patient organization contact information for over 500 identified neurological disorders.

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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 slowly progressive 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 individuals with MJD 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.

Treatment

MJD is incurable, but some symptoms of the disease can be treated. For those individuals 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.

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.

Research

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.

View a list of studies currently seeking patients.

View more studies on this condition.

Organizations

National Ataxia Foundation (NAF)

Encourages and supports research into the hereditary ataxias, a group of chronic and progressive neurological disorders affecting coordination. Sponsors chapters and support groups throughout the U.S.A. and Canada. Publishes a quarterly newsletter and educational literature on the various forms of ataxia.

2600 Fernbrook Lane North
Suite 119
Minneapolis, MN 55447-4752
Tel: 763-553-0020
Fax: 763-553-0167

National Organization for Rare Disorders (NORD)

Federation of voluntary health organizations dedicated to helping people with rare "orphan" diseases and assisting the organizations that serve them. Committed to the identification, treatment, and cure of rare disorders through programs of education, advocacy, research, and service.

55 Kenosia Avenue
Danbury, CT 06810
Tel: 203-744-0100 Voice Mail 800-999-NORD (6673)
Fax: 203-798-2291

National Aphasia Association

Promotes the care, welfare, and rehabilitation of people with aphasia through public education and support of research. Offers printed materials, a toll-free information hotline, a newsletter, and a listing of support groups.

350 Seventh Avenue
Suite 902
New York, NY 10001
Tel: 212-267-2814 800-922-4NAA (4622)
Fax: 212-267-2812

Genetic Alliance

International coalition representing 600 consumer and professional organizations. Supports individuals and families with genetic conditions; educates the public; and advocates for consumer-informed public policies.

4301 Connecticut Avenue, N.W.
Suite 404
Washington, DC 20008-2369
Tel: 202-966-5557 800 336-GENE (4363)
Fax: 202-966-8553

Dystonia Medical Research Foundation

Non-profit medical research foundation that funds research, advances awareness, and provides education and support on dystonia, a movement disorder.

1 East Wacker Drive
Suite 2810
Chicago, IL 60601-1905
Tel: 312-755-0198
Fax: 312-803-0138

American Speech-Language-Hearing Association (ASHA)

Professional, scientific, and credentialing association for audiologists, speech-language pathologists, and speech, language, and hearing scientists. Offers public information about a wide range of speech, language, and hearing disabilities in both children and adults.

2200 Research Boulevard
Rockville, MD 20850
Tel: 800-638-8255
Fax: 301-571-0457

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