Articles » NINDS Machado-Joseph Disease Information Page: NINDS

NINDS Machado-Joseph Disease Information Page: NINDS

Article title: NINDS Machado-Joseph Disease Information Page: NINDS

Main condition: Machado-Joseph Disease

Conditions: Machado-Joseph Disease

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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. People with a defective gene have a 50 percent 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 many 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.

What research is 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.

 Organizations

International Joseph Disease Foundation, Inc.
P.O. Box 2550
Livermore, CA 94551-2550
bashor@ijdf.net
http://www.ijdf.net/
Tel: 925-449-2060
Fax: 925-371-1288

National Ataxia Foundation (NAF)
2600 Fernbrook Lane
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 8923
(100 Route 37)
New Fairfield, CT 06812-8923
orphan@rarediseases.org
http://www.rarediseases.org/
Tel: 203-746-6518 800-999-NORD (6673)
Fax: 203-746-6481

Dystonia Medical Research Foundation
1 East Wacker Drive
Suite 2430
Chicago, IL 60601-1905
dystonia@dystonia-foundation.org
http://www.dystonia-foundation.org/
Tel: 312-755-0198
Fax: 312-803-0138

National Aphasia Association
29 John Street
Suite 1103
New York, NY 10038
naa@aphasia.org
http://www.aphasia.org/
Tel: 212-267-2814 800-922-4NAA (4622)
Fax: 212-267-2812

American Speech Language Hearing Association (ASHA)
10801 Rockville Pike
Rockville, MD 20852-3279
actioncenter@asha.org
http://www.asha.org/
Tel: 301-897-5700 800-638-8255
Fax: 301-571-0457

Family Caregiver Alliance
690 Market Street
Suite 600
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@nfcacares.org
http://www.nfcacares.org/
Tel: 301-942-6430 800-896-3650
Fax: 301-942-2302

Related NINDS Publications and Information

Machado Joseph Disease Fact Sheet
Machado-Joseph Disease fact sheet developed by the National Institute of Neurological Disorders and Stroke (NINDS).

This fact sheet is in the public domain. You may copy it.Provided by:
The National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892



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