Musculoskeletal manifestations of mucopolysaccharidoses
نویسندگان
چکیده
منابع مشابه
Musculoskeletal manifestations of mucopolysaccharidoses.
The mucopolysaccharidoses (MPSs) are a heterogeneous group of inherited metabolic disorders caused by enzyme deficiencies that lead to progressive lysosomal storage of glycosaminoglycans. Musculoskeletal manifestations are common across all forms of MPS and are often apparent early in the disease course. Diagnostic delays occur frequently in these patients, especially those with more attenuated...
متن کاملCardiac manifestations of the mucopolysaccharidoses.
The cardiovascular manifestations of the mucopolysaccharidoses (MPS) have not been well characterized. We studied nine children with various forms of MPS, using noninvasive cardiac diagnostic techniques. The echocardiograms of two brothers with Type I H/S MPS showed slow mitral valve early diastolic closure velocities (MVEDC) (18, 29 mm/sec) consistent with mitral stenosis. Each had a soft open...
متن کاملMucopolysaccharidoses: anesthetic considerations and clinical manifestations.
Mucopolysaccharidosis (MPS) is a group of genetic disorders that presents challenges during anesthetic care and in particular difficulty with airway management. Patients should be managed by experienced anesthesiologists at centers that are familiar with these types of conditions. Rarely encountered disease states have been identified as important topics in the continuing education of clinical ...
متن کاملMusculoskeletal manifestations of scurvy.
Scurvy occurs in individuals who eat inadequate amounts of fresh fruit or vegetables, often because of dietary imbalances related to advanced age or homelessness. Asthenia, vascular purpura, bleeding, and gum abnormalities are the main symptoms. In 80% of cases, the manifestations of scurvy include musculoskeletal symptoms consisting of arthralgia, myalgia, hemarthrosis, and muscular hematomas....
متن کاملAssessment of musculoskeletal abnormalities in children with mucopolysaccharidoses using pGALS
BACKGROUND Children with mucopolysaccharidoses (MPS) often have musculoskeletal (MSK) abnormalities. Paediatric Gait, Arms, Legs, and Spine (pGALS), is a simple MSK assessment validated in school-age children to detect abnormal joints. We aimed to identify MSK abnormalities in children with MPS performing pGALS. METHODS Videos of children with a spectrum of MPS performing pGALS were analysed....
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ژورنال
عنوان ژورنال: Rheumatology
سال: 2011
ISSN: 1462-0324,1462-0332
DOI: 10.1093/rheumatology/ker397