Thelansis

  Alström Syndrome is an ultra-rare multisystem genetic disorder caused by pathogenic variants of the ALMS1 gene. The disease is relentlessly progressive in nature which can result in premature death. Misdiagnosis is common. Because so many of the features of Alström Syndrome develop as children get older, more than seventy percent of the known Alström Syndrome patients have received previous misdiagnoses, and almost half of these have received multiple misdiagnoses. It progresses to severe visual impairment by the end of the second decade in 75%. Obesity develops in early childhood. Progressive bilateral sensorineural hearing loss is more variable, often presenting with high-frequency loss in the first decade, but not detectable until much later in a minority. More than 60% of individuals with AS develop cardiomyopathy. This can present as potentially reversible dilated cardiomyopathy in infancy, or presenting de novo or recurrence in adolescence with progression to a restrictive ...