VLDLR-Associated Cerebellar HypoplasiaSymptoms, Doctors, Treatments, Advances & More
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 practicing medicine in Concord, North Carolina. Dr. Van Poppel is rated as an Experienced provider by MediFind in the treatment of VLDLR-Associated Cerebellar Hypoplasia. Her clinical expertise encompasses Lissencephaly 1, Joubert Syndrome, Cerebellar Hypoplasia, and VLDLR-Associated Cerebellar Hypoplasia. Dr. Van Poppel is board certified in American Board Of Psychiatry And Neurology, Neurology With Special Qualification In Child Neurology, American Board Of Psychiatry And Neurology, Clinical Neurophysiology, American Board Of Pediatrics, and American Board Of Psychiatry And Neurology, Epilepsy. Dr. Van Poppel is currently accepting new patients.
Atrium Health Levine Children's Neurology Concord
Adeel Yousaf is a Neurologist practicing medicine in Concord, North Carolina. Dr. Yousaf is rated as an Experienced provider by MediFind in the treatment of VLDLR-Associated Cerebellar Hypoplasia. His clinical expertise encompasses Neurofibromatosis, Neurofibromatosis Type 1 (NF1), Seizures, and Genetic Epilepsy with Febrile Seizures Plus (GEFS+). Dr. Yousaf is board certified in American Board Of Pediatrics and American Board Of Psychiatry And Neurology. Dr. Yousaf is currently accepting new patients.
Brian Aalbers is a Pediatric Neurologist and a Pediatrics provider practicing medicine in Kansas City, Missouri. Dr. Aalbers is rated as an Advanced provider by MediFind in the treatment of VLDLR-Associated Cerebellar Hypoplasia. He is also highly rated in 21 other conditions, according to our data. His clinical expertise encompasses Periventricular Heterotopia, Cortical Dysplasia, Focal or Multifocal Malformations in Neuronal Migration, 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