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.

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.

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.

Research

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.

Organizations

National Organization for Rare Disorders (NORD)
Federation of voluntary health organizations dedicated to helping people with rare "orphan" diseases and assisting the organizations that serve them. Committed to the identification, treatment, and cure of rare disorders through programs of education, advocacy, research, and service.

55 Kenosia Avenue
Danbury, CT 06810
orphan@rarediseases.org
http://www.rarediseases.org
Tel: Danbury
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: Washington
Fax: 202-884-8441

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NINDS Disorders is an index of neurological conditions provided by the National Institute of Neurological Disorders and Stroke. This valuable tool offers detailed descriptions, facts on treatment and prognosis, and patient organization contact information for over 500 identified neurological disorders.

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