scholarly journals A case report of malignant hyperthermia in a patient with myotonic dystrophy type I

Medicine ◽  
2021 ◽  
Vol 100 (23) ◽  
pp. e25859
Author(s):  
Seon Woo Yoo ◽  
Seon Ju Baek ◽  
Dong-Chan Kim ◽  
A Ram Doo
Keyword(s):  
Case Report ◽  
Malignant Hyperthermia ◽  
Myotonic Dystrophy ◽  
Type I ◽  
Myotonic Dystrophy Type

scholarly journals Successful Anesthetic Management of Myotonic Dystrophy Type I Using Sugammadex: A Case Report

2021 ◽  
Vol 27 (2) ◽  
pp. 125-128
Author(s):  
Suro Kim ◽  
Hea Rim Chun ◽  
Jinhun Chung
Keyword(s):  
Case Report ◽  
Myotonic Dystrophy ◽  
Hidradenitis Suppurativa ◽  
Anesthetic Management ◽  
Pulmonary Complications ◽  
Type I ◽  
Myotonic Dystrophy Type ◽  
Inherited Disease ◽  
Postoperative Pulmonary Complications ◽  
Reversal Agent

Myotonic dystrophy (DM) is an uncommon inherited disease. Anesthesia for DM patients is tough due to its potency of cardiogenic and pulmonary problems, but a series of studies have shown how to manage and avoid complications and situations. We describe a case of a 33-year-old male patient who was scheduled for an elective excision & biopsy on the left axillae for hidradenitis suppurativa with DM type I. Anesthesia was induced and maintained with propofol, remifentanil, and rocuronium. Sugammadex is used as a reversal agent of neuromuscular blockade. He didn’t show myotonia during surgery and emergence. He also didn’t show postoperative pulmonary complications.

scholarly journals Pilomatrix Carcinoma in a Patient With Type 1 Myotonic Dystrophy: A Case Report

2020 ◽  
Vol 6 ◽  
pp. 2513826X1989883
Author(s):  
Sarah L. Zhu ◽  
David Choi ◽  
Jenny Santos ◽  
Bernard S. Jackson ◽  
Matthew McRae
Keyword(s):  
Case Report ◽  
Myotonic Dystrophy ◽  
Latissimus Dorsi ◽  
Myocutaneous Flap ◽  
Myotonic Dystrophy Type 1 ◽  
Myotonic Dystrophy Type ◽  
Genetic Condition ◽  
Latissimus Dorsi Myocutaneous Flap ◽  
Pilomatrix Carcinoma

This is the first report of pilomatrix carcinoma in a man with C282Y myotonic dystrophy type 1. This pilomatrix carcinoma had originally presented as a rapidly growing recurrence of a histopathologically confirmed pilomatrixoma, removed a year prior. On examination, the fungating mass had measured 10 × 23 cm. A wide local resection with removal of suspicious lymph nodes was preformed, and the resulting defect was reconstructed with a latissimus dorsi myocutaneous flap and skin graft. Histologic investigation of the excised mass confirmed the diagnosis of pilomatrix carcinoma. This is the first reported case of pilomatrix carcinoma in a patient with a genetic condition that often presents with scalp pilomatrixomas. Potential implications of myotonic dystrophy on developing pilomatrix carcinoma are discussed.

Cognitive Decline and White Matter Integrity Degradation in Myotonic Dystrophy Type I

2020 ◽  
Author(s):  
Maria Margarita Lopez‐Titla ◽  
Amanda Chirino ◽  
Sara Vanessa Cruz Solis ◽  
Carlos R. Hernandez‐Castillo ◽  
Rosalinda Diaz ◽  
...  
Keyword(s):  
White Matter ◽  
Cognitive Decline ◽  
Myotonic Dystrophy ◽  
White Matter Integrity ◽  
Type I ◽  
Myotonic Dystrophy Type

Strength-Training Induces Skeletal Muscle Adaptations in Patients with Myotonic Dystrophy Type I

2016 ◽  
Vol 48 ◽  
pp. 641 ◽  
Author(s):  
Marie-Pier Roussel ◽  
Marika Morin ◽  
Émile Petitclerc ◽  
Anne-Marie Fortin ◽  
Cynthia Gagnon ◽  
...  
Keyword(s):  
Skeletal Muscle ◽  
Strength Training ◽  
Myotonic Dystrophy ◽  
Type I ◽  
Myotonic Dystrophy Type ◽  
Muscle Adaptations ◽  
Skeletal Muscle Adaptations

scholarly journals Detection of Slipped-DNAs at the Trinucleotide Repeats of the Myotonic Dystrophy Type I Disease Locus in Patient Tissues

PLoS Genetics ◽  
2013 ◽  
Vol 9 (12) ◽  
pp. e1003866 ◽  
Author(s):  
Michelle M. Axford ◽  
Yuh-Hwa Wang ◽  
Masayuki Nakamori ◽  
Maria Zannis-Hadjopoulos ◽  
Charles A. Thornton ◽  
...  
Keyword(s):  
Myotonic Dystrophy ◽  
Trinucleotide Repeats ◽  
Disease Locus ◽  
Type I ◽  
Myotonic Dystrophy Type

Management of anesthesia in a pediatric patient with myotonic dystrophy type 1. Case report

2018 ◽  
Vol 46 (1) ◽  
pp. 72-74 ◽  
Author(s):  
Lleimi Alarcón-Pérez ◽  
Cristina Pastor-Laín ◽  
Lourdes Barragán-González ◽  
Claudia Sarrais-Polo ◽  
María T. López-Gil ◽  
...  
Keyword(s):  
Case Report ◽  
Myotonic Dystrophy ◽  
Pediatric Patient ◽  
Myotonic Dystrophy Type 1 ◽  
Myotonic Dystrophy Type

scholarly journals The Biomarker Potential of miRNAs in Myotonic Dystrophy Type I

2020 ◽  
Vol 9 (12) ◽  
pp. 3939
Author(s):  
Emma Koehorst ◽  
Alfonsina Ballester-Lopez ◽  
Virginia Arechavala-Gomeza ◽  
Alicia Martínez-Piñeiro ◽  
Gisela Nogales-Gadea
Keyword(s):  
Myotonic Dystrophy ◽  
Intracellular Signaling ◽  
Age Of Onset ◽  
Expression Profiles ◽  
Cardiac Conduction ◽  
Type I ◽  
Myotonic Dystrophy Type ◽  
Intercellular Signaling ◽  
Disease Manifestation ◽  
Bodily Fluids

MicroRNAs (miRNAs) are mostly known for their gene regulation properties, but they also play an important role in intercellular signaling. This means that they can be found in bodily fluids, giving them excellent biomarker potential. Myotonic Dystrophy type I (DM1) is the most frequent autosomal dominant muscle dystrophy in adults, with an estimated prevalence of 1:8000. DM1 symptoms include muscle weakness, myotonia, respiratory failure, cardiac conduction defects, cataracts, and endocrine disturbances. Patients display heterogeneity in both age of onset and disease manifestation. No treatment or cure currently exists for DM1, which shows the necessity for a biomarker that can predict disease progression, providing the opportunity to implement preventative measures before symptoms arise. In the past two decades, extensive research has been conducted in the miRNA expression profiles of DM1 patients and their biomarker potential. Here we review the current state of the field with a tissue-specific focus, given the multi-systemic nature of DM1 and the intracellular signaling role of miRNAs.

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