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Spinal muscular atrophy ( SMA) is a rare neuromuscular disorder that results in the loss of motor neurons and progressive muscle wasting. [3] [4] [5] It is usually diagnosed in infancy or early childhood and if left untreated it is the most common genetic cause of infant death. [6] It may also appear later in life and then have a milder course ...
The current classification was last updated in 2017, when a number of rarer forms of EDS were added. EDS occurs due to variations of more than 19 genes that are present at birth. The specific gene affected determines the type of EDS, though the genetic causes of hypermobile Ehlers–Danlos syndrome (hEDS) are still unknown.
Superior mesenteric artery ( SMA) syndrome is a gastro - vascular disorder in which the third and final portion of the duodenum is compressed between the abdominal aorta (AA) and the overlying superior mesenteric artery. This rare, potentially life-threatening syndrome is typically caused by an angle of 6–25° between the AA and the SMA, in ...
Branaplam (development codes LMI070 and NVS-SM1) is a pyridazine derivative that is being studied as an experimental drug.It was originally developed by Novartis to treat spinal muscular atrophy (SMA); since 2020 it was being developed to treat Huntington's disease but the trial ended in 2023 due to toxicity concerns.
ehlers-danlos .com. The Ehlers–Danlos Society is an international nonprofit organization dedicated to patient support, scientific research, advocacy, and increasing awareness for the Ehlers–Danlos syndromes (EDS) and hypermobility spectrum disorder (HSD). [1] The society has organized multiple events around the world in an attempt to raise ...
Risdiplam is a survival of motor neuron 2 -directed RNA splicing modifier. [6] [5] [10] In clinical trials, the most common adverse events included fever, diarrhea, rash, ulcers of the mouth area, joint pain (arthralgia) and urinary tract infections. [6] [5] Additional adverse events observed in the infantile-onset population included upper ...
Number of employees. 3,124 (December 2019) SMA Solar Technology AG (meaning System, Mess and Anlagentechnik) is a German solar energy equipment supplier founded in 1981 and headquartered in Niestetal, Northern Hesse, Germany. SMA is a producer and manufacturer of solar inverters for photovoltaics systems with grid connection, off-grid power ...
Early life and education. A native of Santa Monica, California, Fain is the son of Gordon and Margery Fain. He began studying violin at age of seven with his father, a neurophysiologist at University of California, Los Angeles, and at age of 10, he performed Beethoven’s Spring Sonata for his fifth-grade classmates.