Respiratory involvement in ambulant and non-ambulant patients with facioscapulohumeral muscular dystrophy
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Neurology"
DOI: 10.1007/s00415-017-8525-9
Abstract: Understand the occurrence and predictors of respiratory impairment in FSHD. Data from 100 FSHD patients was collected regarding demographics, genetics, respiratory status and pulmonary function tests, clinical manifestations and Clinical Severity Scale (CSS) scores. Patients… read more here.
Keywords: respiratory involvement; ambulant non; involvement ambulant; non ambulant ... See more keywords
BAG3 Myopathy Presenting With Prominent Neuropathic Phenotype and No Cardiac or Respiratory Involvement: A Case Report and Literature Review.
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Clinical Neuromuscular Disease"
DOI: 10.1097/cnd.0000000000000300
Abstract: Bcl-2-associated athanogene 3 (BAG3) myopathy is a rare myofibrillar myopathy characterized by toe walking and clumsiness in the first decade with rapid progression to cardiomyopathy and restrictive lung disease in the second decade. Most patients… read more here.
Keywords: prominent neuropathic; neuropathic phenotype; bag3 myopathy; respiratory involvement ... See more keywords
Respiratory involvement in neuromuscular disorders
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DOI: 10.1097/wco.0000000000000470
Abstract: Purpose of review In numerous neuromuscular disorders (NMDs), respiratory muscle weakness is present, and acute or chronic respiratory failure may evolve. Very often, respiratory involvement substantially adds to the burden of disease, impairs quality of… read more here.
Keywords: respiratory involvement; respiratory muscle; involvement neuromuscular; neuromuscular disorders ... See more keywords
Deoxynucleoside therapy for respiratory involvement in adult patients with thymidine kinase 2-deficient myopathy
Sign Up to like & getrecommendations! Published in 2020 at "BMJ Open Respiratory Research"
DOI: 10.1136/bmjresp-2020-000774
Abstract: Background Recessive mutations in the thymidine kinase 2 (TK2) gene cause a rare mitochondrial myopathy, frequently with severe respiratory involvement. Deoxynucleoside therapy is currently under investigation. Research question What is the impact of nucleosides in… read more here.
Keywords: respiratory; respiratory involvement; deoxynucleoside therapy; thymidine kinase ... See more keywords
COVID-19 in Children: Respiratory Involvement and Some Differences With the Adults
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DOI: 10.3389/fped.2021.622240
Abstract: The coronavirus disease 2019 (COVID-19) represents a health problem with multidimensional impacts and heterogeneous respiratory involvement in children, probably due to the interaction between different and complex mechanisms that could explain its variable degrees of… read more here.
Keywords: involvement differences; respiratory involvement; differences adults; children respiratory ... See more keywords