Myotonic Dystrophy Type 1 (DM1): From the Genetics to Molecular Mechanisms

Magaña, Jonathan J; Cisneros, Bulmaro

doi:10.5772/30209

Cited by 1 publication

(1 citation statement)

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“…In addition to this, the study of muscle dystrophies (Dystrophia myotonica I-II, Facioscapulohumeral muscular dystrophy, Limb-girdle muscular dystrophy, Duchenne/Becker, Mitochondrialis, Pompe) might be another area of application for our method as hereditary muscle disorder, for example, the histology and histopathology features of dystrophia myotonica (I.II. ), also known as Steinert's disease (Myotonic dystrophy type 1 and type 2), are very similar and exhibit complex muscle structure abnormalities (31)(32)(33)(34)(35)(36)(37)(38)(39)(40). The procedure can also be used with individuals suffering from paraplegia, where maximal muscle tension can be evoked with external electrical stimulus.…”

Section: Discussionmentioning

confidence: 99%

Comparison of Shear Wave Elastography and Dynamometer Test in Muscle Tissue Characterization for Potential Medical and Sport Application

Soldos

Besenyi

Hidéghety

et al. 2021

Pathol. Oncol. Res.

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Skeletal muscle status and its dynamic follow up are of particular importance in the management of several diseases where weight and muscle mass loss and, consequently, immobilization occurs, as in cancer and its treatment, as well as in neurodegenerative disorders. But immobilization is not the direct result of body and muscle mass loss, but rather the loss of the maximal tension capabilities of the skeletal muscle. Therefore, the development of a non-invasive and real-time method which can measure muscle tension capabilities in immobile patients is highly anticipated. Our aim was to introduce and evaluate a special ultrasound measurement technique to estimate a maximal muscle tension characteristic which can be used in medicine and also in sports diagnostics. Therefore, we determined the relationship between the results of shear wave elastography measurements and the dynamometric data of individuals. The measurements were concluded on the m. vastus lateralis. Twelve healthy elite athletes took part in our preliminary proof of principle study—five endurance (S) and seven strength (F) athletes showing unambiguously different muscle composition features, nine healthy subjects (H) without prior sports background, and four cancer patients in treatment for a stage 3 brain tumor (T). Results showed a high correlation between the maximal dynamometric isometric torque (Mmax) and mean elasticity value (E) for the non-athletes [(H + T), (r = 0.795)] and for the athletes [(S + F), (r = 0.79)]. For the athletes (S + F), the rate of tension development at contraction (RTDk) and E correlation was also determined (r = 0.84, p < 0.05). Our measurements showed significantly greater E values for the strength athletes with fast muscle fiber dominance than endurance athletes with slow muscle fiber dominance (p < 0.05). Our findings suggest that shear wave ultrasound elastography is a promising method for estimating maximal muscle tension and, also, the human skeletal muscle fiber ratio. These results warrant further investigations with a larger number of individuals, both in medicine and in sports science.

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