Asher's Syndrome

Asher's syndrome is a rare medical condition characterized by the combination of Kearns-Sayre syndrome and a defect in chromosome 15, often involving mitochondrial dysfunction. It typically presents with progressive weakness of eye muscles causing ptosis (drooping eyelids), problems with eye movements, and other symptoms like muscle weakness, difficulty coordinating movements, and sometimes heart or hearing issues. The condition results from genetic changes that affect how our cells produce energy, leading to malfunction in various tissues, especially those requiring a lot of energy, like muscles and nerves.Diagnosis involves clinical evaluation, genetic testing, and assessments of mitochondrial function.