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Studies with patientsTable of Contents (click to jump to sections)
What is Joubert Syndrome?
Is there any treatment?
What is the prognosis?
What research is being done?
Organizations
Related NINDS Publications and Information
What is Joubert Syndrome?
Joubert syndrome is a rare, genetic disorder that affects the area of the brain that controls balance and coordination. The disorder is characterized by absence or underdevelopment of a part of the brain called the cerebellar vermis and a malformed brain stem. The most common features include ataxia (lack of muscle control), an abnormal breathing pattern called hypernea, sleep apnea, abnormal eye and tongue movements, and hypotonia. Other malformations such as extra fingers and toes, cleft lip or palate, tongue abnormalities, and seizures may also occur. There may be mild or moderate retardation.Is there any treatment?
Treatment for Joubert syndrome is symptomatic and supportive. Infant stimulation and physical, occupational, and speech therapy may benefit some patients. Infants with abnormal breathing patterns should be monitored.
What is the prognosis?
The prognosis for individuals with Joubert syndrome varies. Some patients have a mild form with minimal motor disability and good mental development, while others may have severe motor disability and moderate mental retardation.
What research is being done?
The NINDS supports research on the development of the nervous system, especially the cerebellum. The goals of this research are to improve scientific understanding and medical treatment of developmental disorders, and to disover methods of prevention. NINDS, in conjunction with the NIH Office of Rare Diseases, sponsored a satellite symposium on Joubert Syndrome in conjunction with the Child Neurology conference. Research priorities for the disorder were outlined at this meeting.
Select this link to view a list of studies currently seeking patients.
OrganizationsJoubert Syndrome Foundation
6931 South Carlinda Ave.
Columbia, MD
21046
joubertduquette@comcast.net
http://www.joubertsyndrome.org
Tel: 410-997-8084
Fax: 410-992-9184
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
National Eye Institute (NEI)
National Institutes of Health
Bldg. 31, Rm. 6A32
Bethesda, MD
20892-2510
2020@b31.nei.nih.gov
http://www.nei.nih.gov
Tel: 301-496-5248
Professionals 800-869-2020
National Institute of Child Health and Human
Development (NICHD)
National Institutes of Health
Bldg. 31, Rm. 2A32
Bethesda, MD
20892-2425
NICHDClearinghouse@mail.nih.gov
http://www.nichd.nih.gov
Tel: 301-496-5133
800-370-2943
Related NINDS Publications and InformationFuture Research Directions in Joubert Syndrome
Report on a meeting on Future Research Directions in Joubert Syndrome, held June 27 - 28, 2002.
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.
Provided by:
The National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892
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