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.
Association for Neuro-Metabolic Disorders
c/o Cheryl Volk
5223 Brookfield Lane
Sylvania, OH 43560
National Organization for Rare Disorders (NORD)
P.O. Box 1968
(55 Kenosia Avenue)
Danbury, CT 06813-1968
Tel: 203-744-0100 Voice Mail 800-999-NORD (6673)