Cerebellar hypoplasia
Cerebellar Hypoplasia (pronunciation: ser-uh-bell-ar hy-po-pla-zia) is a medical condition where the cerebellum is smaller than usual or not completely developed. It has been linked to a variety of genetic abnormalities.
Etymology
The term "Cerebellar Hypoplasia" is derived from the Latin word cerebellum meaning "little brain" and the Greek word hypoplasia meaning "underdevelopment".
Causes
Cerebellar Hypoplasia can be caused by a variety of factors including genetic mutations, infections during pregnancy, maternal diabetes, and exposure to harmful substances during fetal development. Some of the genetic conditions associated with Cerebellar Hypoplasia include Dandy-Walker syndrome, Joubert syndrome, and Walker-Warburg syndrome.
Symptoms
Symptoms of Cerebellar Hypoplasia can vary greatly depending on the severity of the condition. They may include developmental delay, difficulties with coordination and balance, muscle weakness, and involuntary eye movements. In severe cases, individuals may have intellectual disability and seizures.
Diagnosis
Diagnosis of Cerebellar Hypoplasia is typically made through a combination of clinical examination and imaging studies, such as MRI or CT scan. Genetic testing may also be performed to identify any underlying genetic conditions.
Treatment
There is no cure for Cerebellar Hypoplasia. Treatment is focused on managing symptoms and improving quality of life. This may include physical therapy, occupational therapy, and speech therapy. Medications may be used to manage seizures or other symptoms.
Related Terms
External links
- Medical encyclopedia article on Cerebellar hypoplasia
- Wikipedia's article - Cerebellar hypoplasia
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