The objective of this study was to describe this impact using the hunter syndromefunctional outcomes for clinical understanding scale hs. Adicione seu blog, site ou grupo e ajude os outros. The impact of hunter syndrome mucopolysaccharidosis type. Listen to yadam hunter conde soundcloud is an audio platform that lets you listen to what you love and share the sounds you create 34 followers. Early symptoms include inguinal hernia, ear infections, and frequent colds. Hunter syndrome symptoms usually become noticeable after the first year of life. Little evidence has been published on the impact of mps ii on healthrelated quality of life hrql.
The characteristic features of hunter syndrome include dwarfism, bone deformities, a thickened, coarse face. It interferes with the bodys ability to break down and recycle specific mucopolysaccharides. Hunter syndrome mucopolysaccharidosis type ii mps ii is a rare metabolic disease that can severely compromise health, wellbeing and life expectancy. Hunter syndrome is inherited as an xlinked recessive trait. Guidelines for diagnosis and treatment of hunter syndrome. Hunter syndrome is caused by a deficiency of the lysosomal enzyme iduronate2sulfatase i2s.
Hunter syndrome is a very rare, inherited genetic disorder caused by a missing or malfunctioning enzyme. The authors present a case of marcus gunn syndrome, whose major feature is the synkinetic movement between mastication muscles and the upper eyelid, present in five per cent of the cases of congenital blepharoptosis. A genetic metabolic disorder that arises from deficiency of the enzyme iduronate sulfatase, resulting in tissue deposits of molecules called mucopolysaccharides. A read is counted each time someone views a publication summary such as the title, abstract, and list of authors, clicks on a figure, or views or downloads the fulltext. Hunter syndrome, also called mucopolysaccharidosis ii or mps ii, is a rare disease thats passed on in families. Hunter syndrome, or mucopolysaccharidosis type ii mps ii, is a rare genetic disorder in which large sugar molecules called glycosaminoglycans aka gags, or mucopolysaccharides build up in body tissues. The lack of this enzyme causes heparan sulfate and.
1511 708 153 852 108 685 353 1097 1562 700 876 2 611 140 298 175 596 548 10 50 1587 35 83 1394 885 924 447 1077 546 968 100 1033