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Don’t fight Cerebellar hypoplasia alone.
Find your community on the free RareGuru App.Cerebellar hypoplasia is a neurological condition in which the cerebellum is not completely developed or is smaller than it should be. It may occur with a variety of congenital syndromes, metabolic disorders and neurodegenerative disorders; therefore signs and symptoms may depend upon the associated condition an affected individual has. The most common findings are developmental and speech delay, poor muscle tone (hypotonia), ataxia and abnormal ocular (eye) movements. Cerebellar hypoplasia may range from mild or partial underdevelopment to complete absence (agenesis). It may affect only the cerebellum, or also affect other central nervous system structures. The inheritance pattern may differ depending on the underlying cause of the condition. Treatment is generally symptomatic and supportive and depends upon the underlying disorder and the severity of symptoms.
Source: GARD Last updated on 05-01-20
The main clinical symptoms are poor muscle coordination (ataxia), decreased muscle tone (hypotonia), developmental or language delay and eye problems.
Last updated on 05-01-20
80%-99% of people have these symptoms.
Click on a symptom to see definitions for associated terms.
| Psychotic mentation |
| Absent speech |
| Abnormality of eye movement |
| Ataxia |
| Muscular hypotonia |
30%-79% of people have these symptoms.
Click on a symptom to see definitions for associated terms.
An unknown % of people have these symptoms.
Click on a symptom to see definitions for associated terms.
It is believed that the cerebellar hypoplasia is due to a defect in the neuronal proliferation and neuronal migration during development of the embryonic nervous system. Cerebellar hypoplasia may result after an atrophy (destruction) of the cerebral cortex on the opposite side. There are some documented cases in the literature in which cerebellar hypoplasia has been associated with autosomal recessive and X-linked patterns of inheritance. There are also several genetic syndromes in which cerebellar hypoplasia is a finding. In other cases, it may be secondary and due to some environmental factors like viral infections, drugs or radiation, but none of these factors has been confirmed.
Last updated on 05-01-20
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