Is your flexibility genetic: Ehlers Danlos Syndrome
Abstract
Ehlers-Danlos Syndrome (EDS) is a genetic condition that affects connective tissues, resulting in symptoms like joint hypermobility, skin elasticity, and tissue fragility. The Classical type of EDS (cEDS) is caused by mutations in the COL5A1 or COL5A2 genes, which affect collagen production and the strength of connective tissues. cEDS is inherited in an autosomal dominant pattern, meaning that a person only needs one copy of the mutated gene from a parent to develop the condition. The Brighton Scale is commonly used to assess joint hypermobility by evaluating joint flexibility and other physical signs. Early diagnosis and genetic testing are essential for managing the condition.
Primary Faculty Mentor Name
Melissa Pespeni
Status
Undergraduate
Student College
College of Arts and Sciences
Program/Major
Neuroscience
Primary Research Category
Life Sciences
Is your flexibility genetic: Ehlers Danlos Syndrome
Ehlers-Danlos Syndrome (EDS) is a genetic condition that affects connective tissues, resulting in symptoms like joint hypermobility, skin elasticity, and tissue fragility. The Classical type of EDS (cEDS) is caused by mutations in the COL5A1 or COL5A2 genes, which affect collagen production and the strength of connective tissues. cEDS is inherited in an autosomal dominant pattern, meaning that a person only needs one copy of the mutated gene from a parent to develop the condition. The Brighton Scale is commonly used to assess joint hypermobility by evaluating joint flexibility and other physical signs. Early diagnosis and genetic testing are essential for managing the condition.