Tuesday 2 January 2018

Cerebellar Agenesis

Cerebellar agenesis is an extremely rare condition. Cerebellar agenesis is a descriptive term implying complete absence of the cerebellum, irrespective of its underlying cause (etiology). Usually, small remnants of the cerebellum are present; therefore the term subtotal cerebellar agenesis is also used in the literature. It is now recognized that cerebellar agenesis can represent a primary disturbance of embryonic development (also called malformation), but it can also result from a secondary destruction of normally developed tissue (also called a disruption). (See the Causes section in the link below for additional information). It is now established that the cerebellum is not only responsible for motor coordination (of muscles, the trunk and limbs, the tongue, and the eye muscles), but also plays an important role in many non-motor functions, including learning, memory, language, and behavior. Therefore, individuals with congenital as well as acquired cerebellar disorders often have learning disabilities, impaired executive functions, and variable degree of cognitive impairments.

For more information, follow this link to NORD 
https://rarediseases.org/rare-diseases/cerebellar-agenesis/

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