Nettet24. okt. 2024 · The German neurologist Johann Hoffman first postulated this sign. It was described by his assistant Hans Curschmann in 1911 and has become a standard part … Nettet21. apr. 2024 · Complications of congenital heart disease in adults include: Irregular heartbeats (arrhythmias). Faulty heart signaling causes the heart to beat too fast, too slowly or irregularly. In some people, severe arrhythmias may cause stroke or sudden cardiac death if not treated.
Hoffmann’s Syndrome a Presenting Manifestation of …
NettetRosai-Dorfman disease (RDD) previously known as sinus histiocytosis with massive lymphadenopathy (SHML), is a rare histiocytic disorder which involves the over-production of a type of white blood cell called non Langerhans sinus histiocyte. RDD is characterized by accumulation of abnormal cells (histiocytes) in various tissues/organs of the body. Nettet22. nov. 2024 · It is characterized by a disorder of the skeletal muscles at birth (congenital). Signs of EMARDD include muscle weakness, respiratory distress caused by paralysis of the diaphragm, joint contractures, scoliosis, absent reflexes and difficulty swallowing. Other symptoms include a cleft palate and difficulty feeding. french word rayon
Pitt-Hopkins syndrome - About the Disease - Genetic and Rare …
NettetSummary. Pitt-Hopkins syndrome (PTHS) is a genetic syndrome that causes developmental delays, moderate to severe intellectual disability, behavioral differences, … NettetDescription. Spinal muscular atrophy is a genetic disorder characterized by weakness and wasting ( atrophy) in muscles used for movement (skeletal muscles). It is caused by a loss of specialized nerve cells, called motor neurons that control muscle movement. The weakness tends to be more severe in the muscles that are close to the center of the ... Nettet5. mar. 2014 · These areas include the skin, central nervous system, kidney, and digestive tract. The symptoms and physical findings associated with Rosai-Dorfman disease vary depending upon the specific areas of the body that are affected. The disorder predominantly affects children, adolescents or young adults. The exact cause of Rosai … french word sans meaning