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Late Onset Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) Myopathy Misdiagnosed as Polymyositis. 2020

Andrea Barp, and Rémi Bellance, and Edoardo Malfatti, and Odile Rigal, and Cécile Acquaviva-Bourdain, and Pascal Laforet
From the Neurology Clinic, Gorizia Hospital, Gorizia, Italy.

UI MeSH Term Description Entries
D008297 Male Males
D009135 Muscular Diseases Acquired, familial, and congenital disorders of SKELETAL MUSCLE and SMOOTH MUSCLE. Muscle Disorders,Myopathies,Myopathic Conditions,Muscle Disorder,Muscular Disease,Myopathic Condition,Myopathy
D003951 Diagnostic Errors Incorrect or incomplete diagnoses following clinical or technical diagnostic procedures. Diagnostic Blind Spots,Errors, Diagnostic,Misdiagnosis,Blind Spot, Diagnostic,Blind Spots, Diagnostic,Diagnostic Blind Spot,Diagnostic Error,Error, Diagnostic,Misdiagnoses
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000368 Aged A person 65 years of age or older. For a person older than 79 years, AGED, 80 AND OVER is available. Elderly
D017285 Polymyositis Diseases characterized by inflammation involving multiple muscles. This may occur as an acute or chronic condition associated with medication toxicity (DRUG TOXICITY); CONNECTIVE TISSUE DISEASES; infections; malignant NEOPLASMS; and other disorders. The term polymyositis is frequently used to refer to a specific clinical entity characterized by subacute or slowly progressing symmetrical weakness primarily affecting the proximal limb and trunk muscles. The illness may occur at any age, but is most frequent in the fourth to sixth decade of life. Weakness of pharyngeal and laryngeal muscles, interstitial lung disease, and inflammation of the myocardium may also occur. Muscle biopsy reveals widespread destruction of segments of muscle fibers and an inflammatory cellular response. (Adams et al., Principles of Neurology, 6th ed, pp1404-9) Myositis, Multiple,Polymyositis Ossificans,Polymyositis, Idiopathic,Idiopathic Polymyositides,Idiopathic Polymyositis,Multiple Myositis,Myositides, Multiple,Ossificans, Polymyositis,Polymyositides,Polymyositides, Idiopathic
D053418 Death Domain Receptor Signaling Adaptor Proteins Intracellular signaling adaptor proteins that contain DEATH EFFECTOR DOMAINS and bind to the cytoplasmic DEATH DOMAIN region found on DEATH DOMAIN RECEPTORS. Many of the proteins in this class take part in intracellular signaling involving TUMOR NECROSIS FACTOR RECEPTORS. DED Signaling Adaptor Proteins,DISC (Death Inducing Signaling Complex),Death Effector Domain Containing Proteins,Death Effector Domain Signaling Adaptor Proteins,Death Inducing Signaling Complex Proteins,Fas-DISC Components,fas Death-Inducing Signaling Complex Components,Fas DISC Components,fas Death Inducing Signaling Complex Components
D054069 Multiple Acyl Coenzyme A Dehydrogenase Deficiency An autosomal recessive disorder of fatty acid oxidation, and branched chain amino acids (AMINO ACIDS, BRANCHED-CHAIN); LYSINE; and CHOLINE catabolism, that is due to defects in either subunit of ELECTRON TRANSFER FLAVOPROTEIN or its dehydrogenase, electron transfer flavoprotein-ubiquinone oxidoreductase (EC 1.5.5.1). ETFA Deficiency,ETFB Deficiency,ETFDH Deficiency,Electron Transfer Flavoprotein Alpha Subunit Deficiency,Electron Transfer Flavoprotein Beta Subunit Deficiency,Electron Transfer Flavoprotein Deficiency,Electron Transfer Flavoprotein Dehydrogenase Deficiency,Ethylmalonic-Adipic Aciduria,Ethylmalonic-Adipicaciduria,Glutaric Acidemia Type II,Glutaric Acidemia, Type 2,Glutaric Aciduria II,Glutaric Aciduria IIA,Glutaric Aciduria IIB,Glutaric Aciduria IIC,Glutaric Aciduria Type 2,Glutaric Aciduria Type II,Glutaric Aciduria, Type 2,MADD (Multiple Acyl-CoA Dehydrogenase Deficiency),Multiple Acyl-CoA Dehydrogenase Deficiency,Multiple FAD Dehydrogenase Deficiency,Aciduria, Ethylmalonic-Adipic,Acidurias, Ethylmalonic-Adipic,ETFA Deficiencies,ETFB Deficiencies,ETFDH Deficiencies,Ethylmalonic Adipic Aciduria,Ethylmalonic Adipicaciduria,Ethylmalonic-Adipic Acidurias,MADD (Multiple Acyl CoA Dehydrogenase Deficiency),MADDs (Multiple Acyl-CoA Dehydrogenase Deficiency),Multiple Acyl CoA Dehydrogenase Deficiency
D020662 Guanine Nucleotide Exchange Factors Protein factors that promote the exchange of GTP for GDP bound to GTP-BINDING PROTEINS. GDP Exchange Factors,GDP-GTP Reversing Factors,Guanine Nucleotide Releasing Factors,GDP Dissociation Factor,GDP Dissociation Stimulators,GDP-GTP Exchange Protein,Guanine Nucleotide Exchange Factor,Guanine-Nucleotide-Releasing Factor,Exchange Factors, GDP,Factors, GDP Exchange,Factors, GDP-GTP Reversing,GDP GTP Exchange Protein,GDP GTP Reversing Factors,Guanine Nucleotide Releasing Factor,Reversing Factors, GDP-GTP

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