Kuskokwim SyndromeSymptoms, Doctors, Treatments, Advances & More
Learn About Kuskokwim Syndrome
Kuskokwim syndrome is characterized by joint deformities called contractures that restrict the movement of affected joints. This condition has been found only in a population of Alaska Natives known as Yup'ik Eskimos, who live in and around a region of southwest Alaska known as the Kuskokwim River Delta.
Kuskokwim syndrome is caused by mutations in the FKBP10 gene, which provides instructions for making the FKBP10 protein (formerly known as FKBP65). This protein is important for the correct processing of complex molecules called collagens, which provide structure and strength to connective tissues that support the body's bones, joints, and organs. Collagen molecules are cross-linked to one another to form long, thin fibrils, which are found in the spaces around cells (the extracellular matrix). The formation of cross-links results in very strong collagen fibrils. The FKBP10 protein attaches to collagens and plays a role in their cross-linking.
Kuskokwim syndrome is extremely rare. It affects a small number of people from the Yup'ik Eskimo population in southwest Alaska.
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.
GMC Hospitalist Program
Dr. Kisvarday is a board-certified physician specializing in internal medicine and pediatrics. Her clinical interests include resident teaching. Dr. Kisvarday obtained her medical degree from Louisiana State University. She then completed a residency at Geisinger Medical Center and a residency at the University of Texas Medical Branch, Galveston. She is certified by the American Board of Internal Medicine and the American Board of Pediatrics. Dr. Kisvarday is rated as an Experienced provider by MediFind in the treatment of Kuskokwim Syndrome. Her clinical expertise encompasses Type 2 Diabetes (T2D), Maturity Onset Diabetes of the Young, Cerebral Palsy, and Acute Eosinophilic Pneumonia. Dr. Kisvarday is board certified in The American Board Of Internal Medicine And The American Board Of Pediatrics.
Geriatric Medicine Consultants
Ritu Rastogi is a primary care provider, practicing in Internal Medicine and Geriatrics in Wilmington, Delaware. Dr. Rastogi is rated as an Experienced provider by MediFind in the treatment of Kuskokwim Syndrome. She is also highly rated in 47 other conditions, according to our data. Her clinical expertise encompasses Dementia, Parkinson's Disease, Heart Failure with Preserved Ejection Fraction (HFpEF), and COVID-19.
9512 Harford Road Suite 201
Shalini Kamal is a primary care provider, practicing in Internal Medicine in Baltimore, Maryland. Dr. Kamal is rated as an Advanced provider by MediFind in the treatment of Kuskokwim Syndrome. She is also highly rated in 10 other conditions, according to our data. Her clinical expertise encompasses Distal Arthrogryposis, Lethal Congenital Contracture Syndrome, Distal Arthrogryposis Type 6, and Trismus-Pseudocamptodactyly Syndrome.
Published Date: November 01, 2013
Published By: National Institutes of Health