NINDS Cerebellar Hypoplasia Information Page

Table of Contents (click to jump to sections)

What is Cerebellar Hypoplasia?
Is there any treatment?
What is the prognosis?
What research is being done?
Clinical Trials
Organizations

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

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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

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National Institute of Neurological Disorders and Stroke
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Last updated September 29, 2011