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NINDS Cerebellar Hypoplasia Information Page


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What is Cerebellar Hypoplasia?

Cerebellar hypoplasia is a neurological condition in which the cerebellum is smaller than usual or not completely developed.  Cerebellar hypoplasia is a feature of a number of congenital (present at birth) malformation syndromes, such as Walker-Warburg syndrome (a form of muscular dystrophy. It is also associated with several inherited metabolic disorders, such as Williams syndrome, and some of the neurodegenerative disorders that begin in early childhood, such as ataxia telangiectasia.   In an infant or young child, symptoms of a disorder that features cerebellar hypoplasia might include floppy muscle tone, developmental or speech delay, problems with walking and balance, seizures, intellectual disability, and involuntary side to side movements of the eyes.  In an older child, symptoms might include headache, dizzy spells, clumsiness, and hearing impairment.

Is there any treatment?

There is no standard course of treatment for cerebellar hypoplasia. Treatment depends upon the underlying disorder and the severity of symptoms.  Generally, treatment is symptomatic and supportive.

What is the prognosis?

The prognosis is dependent upon the underlying disorder.  Some of the disorders that are associated with cerebellar hypoplasia are progressive, which means the condition will worsen over time, and will most likely have a poor prognosis.  Other disorders that feature cerebellar hypoplasia are not progressive, such as those that are the result of abnormal brain formation during fetal development, and might have a better outcome.

What research is being done?

The National Institute of Neurological Disorders and Stroke (NINDS) supports research related to cerebellar hypoplasia and its associated disorders through grants to major research institutions across the country.  Much of this research focuses on finding better ways to prevent, treat, and ultimately cure disorders that feature cerebellar hypoplasia.

NIH Patient Recruitment for Cerebellar Hypoplasia Clinical Trials

Organizations

Column1 Column2
National Organization for Rare Disorders (NORD)
55 Kenosia Avenue
Danbury, CT   06810
orphan@rarediseases.org
http://www.rarediseases.org
Tel: 203-744-0100 Voice Mail 800-999-NORD (6673)
Fax: 203-798-2291

National Dissemination Center for Children with Disabilities
U.S. Dept. of Education, Office of Special Education Programs
1825 Connecticut Avenue NW, Suite 700
Washington, DC   20009
nichcy@aed.org
http://www.nichcy.org
Tel: 800-695-0285 202-884-8200
Fax: 202-884-8441



Prepared by:
Office of Communications and Public Liaison
National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892



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.

Last updated September 29, 2011