Chorea-AcanthocytosisSymptoms, Doctors, Treatments, Advances & More
Learn About Chorea-Acanthocytosis
View Main Condition: Movement Disorders
Chorea-acanthocytosis is primarily a neurological disorder that affects movement in many parts of the body. Chorea refers to the involuntary jerking movements made by people with this disorder. People with this condition also have abnormal star-shaped red blood cells (acanthocytosis). This condition is one of a group of conditions called neuroacanthocytoses that involve neurological problems and abnormal red blood cells.
Mutations in the VPS13A gene cause chorea-acanthocytosis. The VPS13A gene provides instructions for producing a protein called chorein; the function of this protein in the body is unknown. Some researchers believe that chorein plays a role in the movement of proteins within cells. Most VPS13A gene mutations lead to the production of an abnormally small, nonfunctional version of chorein. The VPS13A gene is active (expressed) throughout the body; it is unclear why mutations in this gene affect only the brain and red blood cells.
It is estimated that 500 to 1,000 people worldwide have chorea-acanthocytosis.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Adrian Danek practices practicing medicine in Munich, Germany. Mr. Danek is rated as an Elite expert by MediFind in the treatment of Chorea-Acanthocytosis. He is also highly rated in 24 other conditions, according to our data. His clinical expertise encompasses Chorea-Acanthocytosis, Frontotemporal Dementia, Dementia, and Mcleod Neuroacanthocytosis Syndrome.
Kevin Peikert practices practicing medicine in Rostock, Germany. Mr. Peikert is rated as an Elite expert by MediFind in the treatment of Chorea-Acanthocytosis. He is also highly rated in 9 other conditions, according to our data. His clinical expertise encompasses Chorea-Acanthocytosis, Mcleod Neuroacanthocytosis Syndrome, Abetalipoproteinemia, and Familial Hypobetalipoproteinemia.
Texas Health Heart And Vascular Specialists
Dr. Geetha Ramaswamy was always inspired by her uncle, who practiced family medicine for more than 40 years. When she decided to attend medical school, she knew early on that she wanted to focus on cardiology because of the ever-evolving nature of the field. Dr. Ramaswamy is an interventional cardiologist with subspecialty board certification in adult echocardiology and nuclear cardiology. She is a Fellow of the American College of Cardiology and has been serving the heart and vascular needs of patients since 2006. After serving North Texas communities for several years, Dr. Ramaswamy spent more than a decade in Northern Arkansas as a trailblazer in the fields of radial interventional cardiology, women’s heart care and heart valve treatments. She returned to the DFW area in 2021 to continue her work in interventional/structural cardiology.Dr. Ramaswamy earned her Bachelor of Medicine and Surgery from Chennai Medical College in India. She completed her internal medicine residency at the University of Louisville in Kentucky. Dr. Ramaswamy completed her clinical cardiology fellowship at Barnes-Jewish Hospital-Washington University School of Medicine in St. Louis, Mo.She is also fellowship trained in advanced nuclear cardiology and interventional cardiology through Yale University School of Medicine in New Haven, Conn.Dr. Ramaswamy is fluent in the Tamil and Hindi languages. When not with her patients, she enjoys meditating and the practice of yoga to strengthen not only her physical being but also for the mental strength and emotional balance they provide. Dr. Ramaswamy is rated as an Experienced provider by MediFind in the treatment of Chorea-Acanthocytosis. She is also highly rated in 47 other conditions, according to our data. Her clinical expertise encompasses Unstable Angina, Angina, Coronary Heart Disease, Aortic Valve Replacement, and Transcatheter Aortic Valve Replacement (TAVR).
Published Date: March 01, 2020
Published By: National Institutes of Health