Value of short exercise and short exercise with cooling tests in the diagnosis of myotonic dystrophies (DM1 AND DM2)

Gaweł, Malgorzata; Szmidt-Salkowska, Elzbieta; Łusakowska, Anna; Nojszewska, Monika; Sulek, Anna; Krysa, Wioletta; Rajkiewicz, Marta; Seroka, Andrzej; Kamińska, Anna

doi:10.1002/mus.23908

Cited by 8 publications

(10 citation statements)

References 26 publications

(78 reference statements)

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“…Our results in BMC patients are similar to the results obtained in patients with DM1 presented earlier in the paper by Gawel et al [11]. In SET, the biggest reduction of CMAP amplitude (mean 25.62%) was observed in the first set immediately after maximal effort [SET (1) 0 s].…”

Section: Discussionsupporting

confidence: 92%

“…The sites of stimulation and CMAP recording were marked with coloured markers to obtain a precise location for repeated testing of the CMAPs. This protocol, described earlier by Gawel et al [11], is presented in Table 2.…”

Section: Electrophysiological Testsmentioning

confidence: 99%

“…Protocol used in our EMG lab during SET and SETC performance in patients with BMC (as described in detail by Gawel et al[11])…”

mentioning

confidence: 99%

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Value of short exercise and short exercise with cooling tests in diagnosis of recessive form of myotonia congenita (Becker disease) — are sex differences important?

Nojszewska

Łusakowska

Gaweł

et al. 2022

Neurol Neurochir Pol.

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Introduction:In myotonia congenita (MC), activation with exercise or cooling can induce transient changes in compound motor action potential (CMAP) parameters, thus providing a guide to genetic analysis. Material and methods:We performed the short exercise test (SET) and the short exercise test with cooling (SETC) in 30 patients with genetically confirmed Becker disease (BMC) to estimate their utility in the diagnosis of BMC. Results:Although we observed a significant decrease in CMAP amplitude immediately after maximal voluntary effort in both tests in the whole BMC group, in men this decline was significantly smaller than in women, especially in SET.Clinical implications/future directions: In men with a clinical suspicion of BMC, a small decrease in CMAP amplitude in SET together with a typical decline in SETC does not exclude the diagnosis of BMC. Our results show a sex-specific difference in chloride channel function in BMC, which needs further investigation.

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Section: Discussionsupporting

confidence: 92%

Section: Electrophysiological Testsmentioning

confidence: 99%

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Value of short exercise and short exercise with cooling tests in diagnosis of recessive form of myotonia congenita (Becker disease) — are sex differences important?

Nojszewska

Łusakowska

Gaweł

et al. 2022

Neurol Neurochir Pol.

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“…Frequency ramp peak decrements with marked elevations in the parameter 5XRSN/ESN could aid the differentiation of DM1 from other chloride channel‐mediated myotonias. In DM2, the changes in 5XRSN may have a complementary diagnostic role in the absence of electrical myotonia because short exercise testing is often normal . The short exercise test decrement pattern suggested a chloride channelopathy in 8 patients with DM1 but in no patients of the DM2 cohort …”

Section: Discussionmentioning

confidence: 98%

“…In DM2, the changes in 5XRSN may have a complementary diagnostic role in the absence of electrical myotonia 19 because short exercise testing is often normal. 32 The short exercise test decrement pattern suggested a chloride channelopathy in 8 patients with DM1 but in no patients of the DM2 cohort. 17 MVRC as a Biomarker in DM1.…”

Section: Excitability Alterations Common To Patients Withmentioning

confidence: 95%

Sarcolemmal excitability in the myotonic dystrophies

Boland-Freitas

Lee

Howells³

et al. 2017

Muscle and Nerve

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Biomolecular diagnosis of myotonic dystrophy type 2: a challenging approach

et al. 2017

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Myotonic dystrophy type 1 (DM1) and type 2 (DM2) are the most common adult form of muscular dystrophy, characterized by autosomal dominant progressive myopathy, myotonia, and multiorgan involvement. The onset and symptoms of the myotonic dystrophies are diverse, complicating their diagnoses and limiting a comprehensive approach to their clinical care. Diagnostic delay in DM2 is due not only to the heterogeneous phenotype and the aspecific onset but also to the unfamiliarity with the disorder by most clinicians. Moreover, the DM2 diagnostic odyssey is complicated by the difficulties to develop an accurate, robust, and cost-effective method for a routine molecular assay. The aim of this review is to underline by challenging approach the diagnostic limits and pitfalls that could results in failure to recognize the presence of DM2 disease. Understanding and preventing delays in DM2 diagnosis may facilitate family planning, improve symptom management in the short term, and facilitate more specific treatment in the long term.

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Value of short exercise and short exercise with cooling tests in the diagnosis of myotonic dystrophies (DM1 AND DM2)

Abstract: SET and SETC may serve as useful tools for clinical differentiation between DM1 and DM2, and they may be used as a guide for molecular testing.

Cited by 8 publications

References 26 publications

Value of short exercise and short exercise with cooling tests in diagnosis of recessive form of myotonia congenita (Becker disease) — are sex differences important?

Value of short exercise and short exercise with cooling tests in diagnosis of recessive form of myotonia congenita (Becker disease) — are sex differences important?

Sarcolemmal excitability in the myotonic dystrophies

Biomolecular diagnosis of myotonic dystrophy type 2: a challenging approach

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