Vermis Cerebellar Agenesis

It is feasible that the primary title of the record Joubert Syndrome is not the name you anticipated. Happy inspect the words detailing to discover the alternating name(s) and also condition neighborhood(s) covered by this record.

Basic synonyms

  • cerebellooculorenal disorder 1; CORS1
  • cerebelloparenchchymal problem IV domestic
  • Joubert-Bolthauser disorder

Problem Subdivisions

  • None

General Discussion
Joubert disorder is an autosomal recessive congenital disease that impacts the location of the human brain that regulates equilibrium and also sychronisation. This problem is identified by a certain searching for on an MRI called a “molar tooth indication” where the cerebellar vermis of the human brain is underdeveloped or missing and also the mind stem is unusual. One of the most usual attributes of Joubert disorder are absence of muscle tissue control (ataxia), irregular breathing patterns (hyperpnea), rest apnea, irregular eye and also tongue activities and also reduced muscle mass tone.

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