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Danon disease (or glycogen storage disease Type IIb) is a metabolic disorder. [1] Danon disease is an X-linked lysosomal and glycogen storage disorder associated with hypertrophic cardiomyopathy , skeletal muscle weakness, and intellectual disability. [ 2 ]
Danon Disease, the most common form of AVM, could possibly be cured by adeno-associated virus 9 (AAV9)–mediated gene therapy. [30] Clinical studies on mice with the mutated LAMP2 gene have shown that the injection of the normal human LAMP2B gene into Lamp2 knockout mice actually managed to cure the mice from Danon disease. [7]
The safety and efficacy of Myozyme were assessed in two separate clinical trials in 39 infantile-onset patients with Pompe disease ranging in age from 1 month to 3.5 years at the time of the first infusion. [8] Myozyme treatment prolongs ventilator-free survival and overall survival. Early diagnosis and early treatment lead to much better outcomes.
The following is a timeline of the Rare Diseases Clinical Research Network: As a result of the Rare Diseases Act of 2002, on February 27, 2003, the ORDR (in conjunction with the National Center for Research Resources (NCRR), the General Clinical Research Consortium (GCRC) Program, and other NIH Institutes) requested applications for a Rare Diseases Clinical Research Network.
Tay–Sachs disease was the first of these disorders to be described, in 1881, followed by Gaucher disease in 1882. In the late 1950s and early 1960s, de Duve and colleagues, using cell fractionation techniques, cytological studies, and biochemical analyses, identified and characterized the lysosome as a cellular organelle responsible for ...
The symptoms of both Pompe and Danon diseases are very similar due to a defect in lysosomes. However, in Danon disease, some show abnormal glycogen accumulation, but not all. [15] Progressive proximal skeletal muscle weakness with varied timeline to threshold of functional limitation (early childhood to adulthood).
The syndrome was named for Dr. Peter Barth (b. 1932), a Dutch pediatric neurologist, for his research into and the discovery of the syndrome in 1983. [6] He described a pedigree chart, showing that this is an inherited trait and not a 'communicated' (i.e. infectious) disease. [citation needed]
X-linked myotubular myopathy (MTM) is a form of centronuclear myopathy (CNM) associated with mutations in the myotubularin 1 gene. It is found almost always in male infants. It is one of the severest congenital muscle diseases and is characterized by marked muscle weakness, hypotonia and feeding and breathing difficulti