Cerebellar hypoplasia

Cerebellar hypoplasia is a neurological condition in which the cerebellum—the part of the brain that coordinates movement—is smaller than usual or not completely developed. Cerebellar hypoplasia is a feature of a number of congenital (present at birth) brain malformation syndromes, inherited metabolic disorders and neurodegenerative disorders that begin in early childhood.

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
• involuntary side to side movements of the eyes

In an older child, symptoms might include:

• headache
• dizzy spells
• clumsiness
• hearing difficulty

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.

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.

How can I or my loved one help improve care for people with cerebellar hypoplasia?

Consider participating in a clinical trial so clinicians and scientists can learn more about cerebellar hypoplasia and related disorders. Clinical research uses human volunteers to help researchers learn more about a disorder and perhaps find better ways to safely detect, treat, or prevent disease.

All types of volunteers are needed—those who are healthy or may have an illness or disease—of all different ages, sexes, races, and ethnicities to ensure that study results apply to as many people as possible, and that treatments will be safe and effective for everyone who will use them.

For information about participating in clinical research visit NIH Clinical Research Trials and You. Learn about clinical trials currently looking for people with cerebellar hypoplasia at Clinicaltrials.gov, a database of current and past clinical studies and research results.

Where can I find more information about cerebellar hypoplasia?

Information may be available from the following resources:

Genetic and Rare Diseases (GARD) Information Center

PubMed

Content source: https://www.ninds.nih.gov/health-information/disorders/cerebellar-hypoplasia Accessed June 22, 2023.

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