Learn About Berdon Syndrome
Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a severe disorder affecting the muscles that line the bladder and intestines. It is characterized by impairment of the muscle contractions that move food through the digestive tract (peristalsis) and empty the bladder.
MMIHS can be caused by mutations in one of several genes, the most studied of which is ACTG2. The ACTG2 gene provides instructions for making a protein called gamma (γ)-2 actin. The γ-2 actin proteins organize into filaments that are important for the tensing of muscle fibers (muscle contraction), specifically contraction of smooth muscles of the urinary and intestinal tracts. These contractions empty urine from the bladder and move food through the intestines.
MMIHS is a rare disorder. More than 200 cases have been reported in the medical literature.
When caused by ACTG2 gene mutations, MMIHS follows an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. These cases result from new (de novo) mutations in the gene that occur during the formation of reproductive cells (eggs or sperm) or in early embryonic development. In these cases, affected individuals have no history of the disorder in their family.
Erasmus MC
Dick Tibboel practices in Rotterdam, Netherlands. Mr. Tibboel is rated as an Elite expert by MediFind in the treatment of Berdon Syndrome. His top areas of expertise are Congenital Diaphragmatic Hernia, Diaphragmatic Hernia, Esophageal Atresia, Fasciotomy, and Endoscopy.
Erasmus MC
Robert Hofstra practices in Rotterdam, Netherlands. Mr. Hofstra is rated as an Elite expert by MediFind in the treatment of Berdon Syndrome. His top areas of expertise are Hirschsprung Disease, Berdon Syndrome, Intestinal Pseudo-Obstruction, and Lynch Syndrome.
Jerry & Kathleen Grundhofer Clinic - Gastroenterology
Donald Brust, MD, is a gastroenterologist at the Jerry & Kathleen Grundhofer Clinic in Park City, Utah. He supports patients in Park City, Heber City, Kamas, Snyderville, and surrounding communities, diagnosing and treating diseases and conditions affecting the digestive system.After practicing in larger cities for the last 10 to 15 years, he relocated to the area to reconnect with the sense of community he feels here. His journey into medicine began in fourth grade when his father had a heart attack, sparking a deep curiosity that ultimately led him to a career as a caretaker and a lifelong commitment to understanding and navigating the intricacies of healthcare.During medical school, Dr. Brust found his passion for gastroenterology, drawn to its dynamic nature and the mix of patient care, procedures, and inpatient work. He embraces the constant evolution of medicine, particularly in gastroenterology, where new medicines and innovative technologies play a pivotal role in enhancing patient care. For Dr. Brust, the ever-changing landscape of medicine, coupled with the tangible impact on patients' well-being, reinforces the fulfillment and purpose he finds in his role as a gastroenterologist.Outside of work, Dr. Brust is an outdoor enthusiast who enjoys running, skiing, and fishing. Dr. Brust is rated as an Advanced provider by MediFind in the treatment of Berdon Syndrome. His top areas of expertise are Berdon Syndrome, Gastritis, Anal Fissure, Chronic Erosive Gastritis, and Endoscopy.
Published Date: October 01, 2017
Published By: National Institutes of Health