Results from a 3-year Non-interventional, Observational Disease Monitoring Program in Adults with GNE Myopathy
نویسندگان
چکیده
منابع مشابه
Phenotypic stratification and genotype–phenotype correlation in a heterogeneous, international cohort of GNE myopathy patients: First report from the GNE myopathy Disease Monitoring Program, registry portion
GNE myopathy is a rare distal myopathy, caused by mutations in the GNE gene, affecting sialic acid synthesis. Clinical presentation varies from asymptomatic early stage patients to severely debilitating forms. This first report describes clinical presentations and severity of the disease, using data of 150 patients collected via the on-line, patient-reported registry component of the GNE Myopat...
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Muscle diseases represent specific muscle pathology. The characteristic features as hallmarks of diseases have been historically used to diagnose the patients. The “Rimmed vacuole (RV)” (Figures 1) is one of such characteristic features in certain groups of the diseases. This structure consists of the space (vacuole) and purple granules (rim) within myofibers, while the space is sometimes occup...
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Background. Hereditary inclusion body myopathy is caused by biallelic defects in the GNE gene located on chromosome 9p13. It generally affects adults older than 20 years of age. Methods and Results. In this study, we present two Turkish sisters with progressive myopathy and describe a novel mutation in the GNE gene. Both sisters had slightly higher levels of creatine kinase (CK) and muscle weak...
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OBJECTIVE To characterize the pattern and extent of muscle weakness and impact on physical functioning in adults with GNEM. METHODS Strength and function were assessed in GNEM subjects (n = 47) using hand-held dynamometry, manual muscle testing, upper and lower extremity functional capacity tests, and the GNEM-Functional Activity Scale (GNEM-FAS). RESULTS Profound upper and lower muscle wea...
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GNE myopathy (previous names: HIBM, DMRV, IBM2) is a unique distal myopathy with quadriceps sparing. This recessively inherited myopathy has been diagnosed in various regions of the world with more than 150 disease-causing mutations already identified. Several of those are proven or suspected to be founder mutations in certain regional clusters and are described in this review. The review also ...
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ژورنال
عنوان ژورنال: Journal of Neuromuscular Diseases
سال: 2021
ISSN: 2214-3599,2214-3602
DOI: 10.3233/jnd-200565