The Role of Clinical Observation: Red Flag 1 — Cardiomyopathies and Skeletal Muscle Involvement

2013 ◽  
pp. 25-42
Author(s):  
Gianfranco Sinagra ◽  
Fulvio Camerini ◽  
Enrico Fabris
2021 ◽  
Vol 2021 ◽  
pp. 1-3
Author(s):  
Subash Thapa ◽  
Norman Lamichhane ◽  
Santosh Joshi

Cysticercosis is considered a common healthcare problem, especially in developing countries. The invasion of muscle by the larval stage of the pork tapeworm, Taenia solium (i.e., Cysticercus cellulosae) usually occurs in association with CNS cysts, concurrent muscle cysts, or both. Isolated skeletal muscle involvement is rare and presents with nonspecific symptoms resulting in a diagnostic dilemma for the treating physician. We report a 20-year-old female with isolated cysticercosis of right sternocleidomastoid muscle presenting as a right neck swelling and mild pain for 4 months, whose diagnosis was established by ultrasonography (USG) and computed tomogram (CT) scan. She was managed conservatively with oral albendazole therapy for four weeks resulting in complete resolution.


1994 ◽  
Vol 17 (8) ◽  
pp. 923-930 ◽  
Author(s):  
Alberto Alain Gabbai ◽  
Clayton A. Wiley ◽  
Acary S. B. Oliveira ◽  
Ricardo Smith ◽  
Beny Schmidt ◽  
...  

2001 ◽  
Vol 11 (3) ◽  
pp. 217-221 ◽  
Author(s):  
Elisabeth Hartl ◽  
Josef Finsterer ◽  
Carmen Grossegger ◽  
Alois Kroiss ◽  
Claudia Stöllberger

2003 ◽  
Vol 7 (6) ◽  
pp. 401-406 ◽  
Author(s):  
Zarazuela Zolkipli ◽  
Cheryl Longman ◽  
Sue Brown ◽  
Nazneen Rahman ◽  
S.E Holder ◽  
...  

Neurology ◽  
2021 ◽  
pp. 10.1212/WNL.0000000000012542
Author(s):  
Shahar Shelly ◽  
Niaz Talha ◽  
Naveen L Pereira ◽  
Andrew G. Engel ◽  
Jonathan N Johnson ◽  
...  

Objective:We aimed to determine the genetic and clinical phenotypes of desmin-related myopathy patients and long-term outcomes after cardiac transplant.Methods:Retrospective review of cardiac and neurological manifestations of genetically confirmed desmin-related myopathy patients (Jan 1st, 1999-Jan 1st, 2020).Results:Twenty-five patients in 20 different families were recognized. Median age at onset of symptoms was 20 years (range: 4-50), median follow-up time of 36 months (range: 1-156). Twelve patients initially presented with skeletal muscle involvement and 13 with cardiac disease. Sixteen patients had both cardiac and skeletal muscle involvement. Clinically muscle weakness distribution was distal (n=11), proximal (n=4) or both (n=7) of 22 patients. Skeletal muscle biopsy from patients with missense and splice site variants (n=12) showed abnormal fibers containing amorphous material in Gomori trichrome stained sections. Patients with cardiac involvement had atrioventricular conduction abnormalities or cardiomyopathy. The most common ECG abnormality was complete AV block in 11 patients all of whom required a permanent pacemaker at a median age of 25 years (range: 16-48). Sudden cardiac death resulting in implantable cardioverter defibrillator (ICD) shocks or resuscitation were reported in 3 patients, a total of 5 patients had ICDs. Orthotopic cardiac transplantation was performed in 3 patients at 20, 35 and 39 years of age.Conclusions:Pathogenic variants in desmin can lead to varied neurological and cardiac phenotypes beginning at a young age. Two-thirds of the patients have both neurologic and cardiac symptoms usually starting in the third decade. Heart transplant was tolerated with improved cardiac function and quality of life.


2013 ◽  
pp. 71-72
Author(s):  
Fulvio Camerini ◽  
Luisa Mestroni ◽  
Gianfranco Sinagra ◽  
Michele Moretti

2013 ◽  
pp. 43-49
Author(s):  
Fulvio Camerini ◽  
Gianfranco Sinagra ◽  
Stefano Bardari

1985 ◽  
Vol 7 (6) ◽  
pp. 585-589 ◽  
Author(s):  
Kenji Yokochi ◽  
Sei Suzuki ◽  
Toyotaka Tanaka ◽  
Mie Asada ◽  
Ikuya Nonaka

Sign in / Sign up

Export Citation Format

Share Document