Danon disease symptoms
WebMost women with Danon disease also develop cardiomyopathy; of the women who have this feature, about half have hypertrophic cardiomyopathy, and the other half have …
Danon disease symptoms
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Males In males the symptoms of Danon disease are more severe. Features of Danon disease in males are: • An early age of onset of muscle weakness and heart disease (onset in childhood or adolescence) • Some learning problems or intellectual disability can be present WebMar 5, 2024 · Clinical characteristics: Danon disease is a multisystem condition with predominant involvement of the heart, skeletal muscles, and retina, with overlying …
WebGlycogen storage disease type IIa, also called Pompe disease, (not to be confused with GSD-IIb, Danon disease, which has similar symptoms but a different gene).It is an autosomal recessive metabolic disorder which damages muscle and nerve cells throughout the body. It is caused by an accumulation of glycogen in the lysosome due to deficiency … WebLysomal storage diseases occur when the body doesn’t have the necessary protein cells to properly metabolize and recycle waste (an intracellular process called autophagy). When …
WebDec 24, 2024 · Mutations in the X-linked LAMP-2 gene are associated with Danon disease. Symptoms of Danon disease include hypertrophic/dilated cardiomyopathy, heart failure, muscle weakness, retinopathy, and mental retardation (8–11).The mean ages in years of diagnosis of cardiomyopathy and death are 13 and 19 in men and 30 and 35 in women … WebJun 14, 2012 · Danon disease is a rare X-linked dominant lysosomal disease due to the primary deficiency of lysosome-associated membrane protein 2 (LAMP2) gene. ... The clinical symptoms are variable, from ...
WebMar 23, 2024 · Danon disease (DD) is a rare X-chromosome–linked dominant lysosomal glycogen storage disease. Its features have seldom been reported by using cardiac MRI. This case series aimed to evaluate cardiac features of DD on the basis of MRI observations from five centers in China. From January 2010 to May 2024, 16 patients with DD (13 …
WebFrom MedlinePlus Genetics Danon disease is a condition characterized by weakening of the heart muscle (cardiomyopathy); weakening of the muscles used for movement, called skeletal muscles, (myopathy); and intellectual disability. Males with Danon disease usually develop the condition earlier than females and are more severely affected. Signs and … エスポート 山形 口コミWebJan 11, 2024 · Danon disease (DD) is a monogenic lysosomal storage disorder characterized by cardiomyopathy, skeletal myopathy, and variable degrees of intellectual disability. It is caused by a deficiency of lysosomal-associated membrane protein 2 (LAMP2). Two unrelated boys who presented with severe hypertrophic cardiomyopathy … panel solar tipo nWebMay 1, 2024 · Danon disease (DD) is a rare x-linked dominant multisystemic disorder with a clinical triad of severe cardiomyopathy, skeletal myopathy, and mental retardation. ... The main symptoms of the proband were recurrent chest tightness and asthma for 6 months after activity, and occasional palpitations and fatigue. One week after admission, the ... エスポート 山形 電話番号WebBackground and History: This disorder was first described by M.J. Danon and coworkers in 1981. It was originally thought to be a form of glycogen storage disease of which there are multiple types but it has since been shown to be a disease of abnormal metabolism of breakdown products of tissue. panel solar sharp 300w monocristalinoWebDanon disease is inherited as X-linked dominant; thus, males are more severely affected than females, although females develop symptoms at a later onset. Patients with … panel soloautosWebDanon Disease is a rare genetic condition causing muscle weakness (muscular dystrophy), heart disease (cardiomyopathy), and mental retardation (or learning problems). Danon … エスボード 技WebMay 4, 2024 · Introduction. Danon disease is an X-linked dominant disorder with defects in the lysosome-associated membrane protein 2 (LAMP2) gene and is characterized histologically by the appearance of intracellular autophagic vacuoles in skeletal and cardiac muscles.1 Because of haploinsufficiency, male patients are more severely affected than … panelspan australia