Learn About VLDLR-Associated Cerebellar Hypoplasia
Dysequilibrium syndrome (DES) is a group of disorders that are characterized by abnormal brain development, which causes intellectual disabilities and problems with balance and coordination (ataxia). The specific signs and symptoms and the severity of the condition can vary among affected individuals.
Certain variants (also called mutations) in one of several genes cause DES. There are at least four types of DES, each with a different genetic cause. Variants in the VLDLR gene cause a form of DES called type 1, also sometimes called VLDLR-related cerebellar hypoplasia. This is the most common form of DES.
The exact prevalence of DES is unknown, but more than 75 cases have been reported in the medical literature.
DES is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell must have a variant to cause the disorder. The parents of an individual with an autosomal recessive condition each carry one copy of the altered gene, but they typically do not show signs and symptoms of the condition.
Atrium Health Levine Children's Neurology Concord
Kate Van Poppel is a Neurologist and a Pediatric Neurologist in Concord, North Carolina. Dr. Van Poppel is rated as an Experienced provider by MediFind in the treatment of VLDLR-Associated Cerebellar Hypoplasia. Her top areas of expertise are Cerebellar Agenesis, VLDLR-Associated Cerebellar Hypoplasia, Cerebellar Hypoplasia, and Joubert Syndrome. Dr. Van Poppel is currently accepting new patients.
Atrium Health Levine Children's Neurology Concord
Adeel Yousaf is a Neurologist in Concord, North Carolina. Dr. Yousaf is rated as an Experienced provider by MediFind in the treatment of VLDLR-Associated Cerebellar Hypoplasia. His top areas of expertise are Neurofibromatosis, Neurofibromatosis Type 1 (NF1), Seizures, and Genetic Epilepsy with Febrile Seizures Plus (GEFS+). Dr. Yousaf is currently accepting new patients.
Brian Aalbers is a Pediatric Neurologist and a Pediatrics provider in Kansas City, Missouri. Dr. Aalbers is rated as an Advanced provider by MediFind in the treatment of VLDLR-Associated Cerebellar Hypoplasia. His top areas of expertise are Focal or Multifocal Malformations in Neuronal Migration, Cortical Dysplasia, Periventricular Heterotopia, and Seizures.
Summary: At times patients with advanced renal failure present with severe hyperkalemia or acidosis and very high serum blood urea nitrogen (BUN) concentrations. These patients cannot be dialyzed aggressively as the lowering of serum BUN may results in disequilibrium syndrome but on the other hand they need aggressive dialysis in order to lower their serum potassium or fix their severe acidosis. If one is ...
Published Date: March 02, 2026
Published By: National Institutes of Health