This content is machine translated Rare diseases: Marfan syndrome Hereditary connective tissue disease with a vascular component Even though targeted genetic tests are now available, the diagnosis of Marfan syndrome is still mainly based on specific clinical criteria, in particular the revised Ghent classification. The broad phenotypic...…
View Post 3 min This content is machine translated Rare diseases Wolfram syndrome The term “DIDMOAD” syndrome – an acronym for the characteristic symptoms – serves as an alternative name for this autosomal recessive neurodegenerative disease, which was first described in 1938: Diabetes...…
View Post 4 min This content is machine translated Rare diseases Syringomyelia – multiple symptoms make diagnosis difficult Syringomyelia is a rare disease that develops due to a disturbance of cerebrospinal fluid flow (CSF) and is often due to obstruction of the subarachnoid space of the spinal column.…
View Post 5 min This content is machine translated Rare diseases Donnai-Barrow syndrome This very rare syndrome is caused by mutations in the LRP2 gene, which codes for megalin, and is inherited in an autosomal recessive manner. It is characterized by craniofacial features…
View Post 6 min This content is machine translated Rare diseases Crigler-Najjar syndrome The syndrome, first described by the two doctors Dr. John Crigler and Dr. Victor Najjar in 1952, is characterized by a congenital disorder in the metabolism of bilirubin. Existing treatment…
View Post 4 min This content is machine translated Rare diseases Cogan syndrome – a clinical challenge The disease was first described in 1945 by the US physician David Glendering Cogan. The physician noticed a clear hearing loss in combination with keratitis. The exact causes are unclear,…
View Post 5 min This content is machine translated Rare diseases Muckle-Wells syndrome This rare autoinflammatory syndrome, caused by a genetic mutation, was first described in 1962 by the English doctors Thomas James Muckle and Michael Vernon Wells. Muckle-Wells syndrome is one of…
View Post 3 min This content is machine translated Rare diseases Dravet syndrome This rare and severe form of epilepsy was first described by the French physician Dr. Charlotte Dravet. The former term was “severe infantile myoclonic epilepsy”. The first manifestation of Dravet…
View Post 5 min This content is machine translated Rare Disease Day 2024 “Think of zebras when you hear hooves clattering” This quote goes back to the US-American physician Th. E. Woodward and is considered a metaphor for the diagnosis of rare diseases. International Rare Disease Day traditionally takes place on…
View Post 3 min This content is machine translated Rare diseases Turcot syndrome This genetic disease is characterized by an increased incidence of colorectal adenomas and brain tumours and was first described in 1959 by the Canadian surgeon Jacques Turcot. The tumors are…
View Post 4 min This content is machine translated Rare diseases: hATTR amyloidosis What treatment options are available today? Transthyretin-associated amyloidosis (ATTR) is hereditary (hATTR) or acquired (wATTR). In patients with unclear left ventricular hypertrophy and characteristic findings, it is recommended to investigate the presence of cardiac amyloidosis. In…
