scholarly journals Cardiomyopathy, Proximal Myopathy, Camptocormia, and Novel Filamin C (FLNC) Variant: A Case Report

2021 ◽  
Vol 22 ◽  
Author(s):  
Sara Jasmin Hooshmand ◽  
Raghav Govindarajan ◽  
Brian P. Bostick
Keyword(s):  
Case Report ◽  
Proximal Myopathy ◽  
Filamin C

scholarly journals Widening the spectrum of filamin-C myopathy: Predominantly proximal myopathy due to the p.A193T mutation in the actin-binding domain of FLNC

2017 ◽  
Vol 27 (1) ◽  
pp. 73-77 ◽  
Author(s):  
Fleur J.A. van den Bogaart ◽  
Kristl G. Claeys ◽  
Rudolf A. Kley ◽  
Benno Kusters ◽  
Simone Schrading ◽  
...  
Keyword(s):  
Binding Domain ◽  
Actin Binding ◽  
Actin Binding Domain ◽  
Proximal Myopathy ◽  
Filamin C

CASE REPORT: BILATERAL ADHESIVE CAPSULITIS, OLIGOARTHRITIS AND PROXIMAL MYOPATHY AS PRESENTATION OF HYPOTHYROIDISM

Rheumatology ◽  
1988 ◽  
Vol 27 (1) ◽  
pp. 62-64 ◽  
Author(s):  
C. A. BOWMAN ◽  
W. J. JEFFCOATE ◽  
M. PATTRICK ◽  
M. DOHERTY
Keyword(s):  
Case Report ◽  
Adhesive Capsulitis ◽  
Proximal Myopathy

scholarly journals A mutation in the filamin c gene causes myofibrillar myopathy with lower motor neuron syndrome: a case report

BMC Neurology ◽  
2019 ◽  
Vol 19 (1) ◽  
Author(s):  
Juanjuan Chen ◽  
Jun Wu ◽  
Chunxi Han ◽  
Yao Li ◽  
Yuzu Guo ◽  
...  
Keyword(s):  
Case Report ◽  
Motor Neuron ◽  
Lower Motor Neuron ◽  
Myofibrillar Myopathy ◽  
Motor Neuron Syndrome ◽  
Filamin C

scholarly journals Danon disease: A case report and literature overview

2007 ◽  
Vol 135 (3-4) ◽  
pp. 197-200
Author(s):  
Suad Catovic ◽  
Petar Otasevic
Keyword(s):  
Mental Retardation ◽  
Case Report ◽  
Treatment Strategies ◽  
Glycogen Storage ◽  
Danon Disease ◽  
Appropriate Treatment ◽  
Therapeutic Measures ◽  
Systolic And Diastolic Function ◽  
Ventricular Preexcitation ◽  
Proximal Myopathy

Danon disease, a rare glycogen storage disease, is a dominant X-linked disorder. It is due to mutation in gene for lysosome-associated membrane protein 2 (LAMP 2). The LAMP 2 gene is located on Xq24, and its mutation causes primary deficiency of LAMP 2 and myocyte hypertrophy by accumulations of vacuoles containing glycogen. Danon disease is clinically characterized by the triad of hypertrophic cardiomyopathy (HCM), proximal myopathy and mental retardation. Myopathy and mental retardation can be absent, and cardiomyopathy is usually hypertrophic. This is a case report of the patient with genetically confirmed Danon disease and mixed cardiomyopathy, but without myopathy and mental retardation. ECG showed typical Wolff-Parkinson-White (WPW) pattern while echocardiography demonstrated hypertrophy and dilatation of all cardiac chambers with impaired systolic and diastolic function. Male sex, early onset of symptoms, massive hypertrophy of the myocardium and ventricular preexcitation indicate a genetic basis for HCM. Therapeutic measures, except heart transplantation, do not improve prognosis substantially. Only an accurate diagnosis in patients with unexplained HCM helps in establishing of the appropriate treatment strategies and adequate genetic consultation. .

scholarly journals A Young Man Suspicious for Cushing's Syndrome With Coronavirus Disease-19 (COVID-19): A Case Report

2021 ◽  
Author(s):  
Shahin Besharati ◽  
Zahra Abbaspourrad ◽  
Hossein Chiti ◽  
Negin Parsamanesh
Keyword(s):  
Case Report ◽  
Cushing’S Syndrome ◽  
Central Obesity ◽  
Cushing's Syndrome ◽  
High Dose ◽  
Low Grade ◽  
High Dose Dexamethasone ◽  
The World ◽  
Dexamethasone Test ◽  
Proximal Myopathy

The 2019 global Coronavirus syndrome pandemic (COVID-19) has entered more than two hundred countries around the world, involving <82 million persons and >1,800,000 deaths (until January, 1st 2021). We report on COVID-19 infection in the context of a Cushing's syndrome (CS) from Iran. A 36-year-old man with proximal myopathy, plethora, and striae with central obesity was evaluated for Cushing's syndrome. During the high dose dexamethasone test, the patient developed symptoms of cough, low-grade fever, and weakness then was admitted to the ICU with a diagnosis of COVID-19. Despite treatment according to national protocols for COVID-19, the patient unfortunately died. In this report, we intend to discuss the various aspects of Cushing's syndrome and severe COVID-19 infection.

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