What are the Mucolipidoses?
The mucolipidoses are a group of inherited diseases characterized by genetic defects that cause problems with the metabolism of enzymes. These deficiencies result in bone and joint damage, and may cause severe complications in the organ systems of the body. The group includes four diseases:
Symptoms of the mucolipidoses include: mental retardation, impairment in the development of psychomotor skills, stiff or deformed joints, short stature, spinal curvature, claw-like hands, hip joint deterioration, fatigue, abnormalities of the skull and face, frequent respiratory infections, and clouding of the cornea. Mucolipidoses can be detected before birth, using prenatal screening tests. Some forms are more common among Ashkenazi Jews and French Canadians.
Is there any treatment?
Treatment for the mucolipidoses disorders is symptomatic and depends upon the severity of the disease. In some cases, surgery is necessary to correct bone or joint damage. Complications accompanying mucolipidoses are often treated with antibiotics.
What is the prognosis?
The prognosis for anyone with a mucolipidoses disorder is based on the severity of the symptoms, which can range from relatively moderate to life threatening. Some forms of mucolipidoses can be fatal.
What research is being done?
The NINDS supports research on genetic disorders such as the mucolipidoses. This research includes studies to understand how genetic defects can cause neurological diseases. NINDS-funded studies contribute to a greater understanding of the brain in sickness and health and can open promising new avenues for the development of successful treatments.
Select this link to view a list of studies currently seeking patients.
National MPS Society, Inc.
45 Packard Drive
Bangor, ME 04401
info@mpssociety.org
http://www.mpssociety.org
Tel: 207-947-1445
Fax: 207-990-3074
Mucolipidosis IV Foundation (ML4)
719 East 17th Street
Brooklyn, NY 11230
ML4www@aol.com
http://www.ml4.org
Tel: 718-434-5067
Fax: 718-859-7371
National Tay-Sachs and Allied Diseases Association
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Boston, MA 02135
info@ntsad.org
http://www.ntsad.org
Tel: 617-277-4463 800-90-NTSAD (906-8723)
Fax: 617-277-0134
Association for Neuro-Metabolic Disorders
c/o Cheryl Volk
5223 Brookfield Lane
Sylvania, OH 43560
VOLK4OLKS@aol.com
Tel: 419-885-1497
Genetic Alliance
4301 Connecticut Avenue, N.W.
Suite 404
Washington, DC 20008-2369
info@geneticalliance.org
http://www.geneticalliance.org
Tel: 202-966-5557 800 336-GENE (4363)
Fax: 202-966-8553
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