BACKGROUND: The TREAT-NMD Global Registry Network is a global collaboration of neuromuscular disease registries, including myotonic dystrophy type 2 (DM2), which aims to facilitate collaborative research and clinical trials. OBJECTIVES: This study aimed to assess DM2 patients included in the network, and to analyse their socio-demographic and clinical features. METHODS: Data were collected through email surveys sent to 16 TREAT-NMD myotonic dystrophy core member registries. 10 registries enrolled DM2 patients. RESULTS: The total number of DM2 cases was 1,720, with the Czech, German, and USA registries enrolling the most patients (445, 430, and 339 cases, respectively). The highest rates were seen in Czechia and Serbia (4.2 and 2.0 registered per 100,000 population, respectively). High DM2:DM1 ratios were seen in Central Europe. The median age at registry entry was 51 years. Symptom onset occurred before age 20 in 14% of cases. One fifth of patients used an assistive device to walk, and 4% were non-ambulatory. Insertion of a pacemaker or implantable cardioverter-defibrillator was reported in 4% of subjects, while 7% used non-invasive ventilation. CONCLUSIONS: This represents the largest DM2 cohort assembled to date, providing demographic and clinical data for future research and trial recruitment, illustrating TREAT-NMD's international reach and the importance of capturing DM2 data.

• Klíčová slova
• age at onset, ambulation, myotonic dystrophy type 2, non-invasive ventilation, pacemaker, registry,
• MeSH
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mezinárodní spolupráce MeSH
• mladiství MeSH
• mladý dospělý MeSH
• myotonická dystrofie * terapie   MeSH
• registrace * MeSH
• senioři MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladiství MeSH
• mladý dospělý MeSH
• mužské pohlaví MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH

The pathogenesis of myotonic dystrophy type 2 includes the sequestration of MBNL proteins by expanded CCUG transcripts, which leads to an abnormal splicing of their target pre-mRNAs. We have found CCUG(exp) RNA transcripts of the ZNF9 gene associated with the formation of ribonuclear foci in human skeletal muscle and some non-muscle tissues present in muscle biopsies and skin excisions from myotonic dystrophy type 2 patients. Using RNA-FISH and immunofluorescence-FISH methods in combination with a high-resolution confocal microscopy, we demonstrate a different frequency of nuclei containing the CCUG(exp) foci, a different expression pattern of MBNL1 protein and a different sequestration of MBNL1 by CCUG(exp) repeats in skeletal muscle, vascular smooth muscle and endothelia, Schwann cells, adipocytes, and ectodermal derivatives. The level of CCUG(exp) transcription in epidermal and hair sheath cells is lower compared with that in other tissues examined. We suppose that non-muscle tissues of myotonic dystrophy type 2 patients might be affected by a similar molecular mechanism as the skeletal muscle, as suggested by our observation of an aberrant insulin receptor splicing in myotonic dystrophy type 2 adipocytes.

• MeSH
• aktiny metabolismus   MeSH
• analýza rozptylu MeSH
• antigeny CD34 metabolismus   MeSH
• endotel metabolismus   patologie   MeSH
• konfokální mikroskopie MeSH
• kosterní svaly metabolismus   MeSH
• kůže metabolismus   patologie   MeSH
• lidé MeSH
• myotonická dystrofie MeSH
• myotonické poruchy * diagnóza   genetika   metabolismus   patologie   MeSH
• neurofilamentové proteiny metabolismus   MeSH
• proteiny S100 metabolismus   MeSH
• proteiny vázající RNA genetika   metabolismus   MeSH
• receptor inzulinu genetika   MeSH
• repetitivní sekvence nukleových kyselin genetika   MeSH
• RNA metabolismus   MeSH
• sestřih RNA genetika   MeSH
• transport proteinů fyziologie   MeSH
• tukové buňky metabolismus   patologie   MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Názvy látek
• aktiny MeSH
• antigeny CD34 MeSH
• CNBP protein, human MeSH Prohlížeč
• MBNL1 protein, human MeSH Prohlížeč
• neurofilamentové proteiny MeSH
• proteiny S100 MeSH
• proteiny vázající RNA MeSH
• receptor inzulinu MeSH
• RNA MeSH

We report the case of a patient suffering from duplicity of myotonic dystrophy type 1 and ulcerative colitis whose treatment for ulcerative colitis included repeated administrations of descending doses of methylprednisolone and in whom we found an association between methylprednisolone dosing and cessation of myotonia. Myotonia severity was expressed as relaxation time after voluntary contraction and as a patient-reported outcome using the Czech version of the Myotonia Behavior Scale. The patient was being treated for a flare of ulcerative colitis, starting with 32 mg of methylprednisolone and reducing the dose by 4 mg a week. The symptoms of myotonia began to wear off three weeks after starting methylprednisolone and had totally disappeared by four weeks after starting methylprednisolone. The first symptoms of myotonia returned about a month after the last dose of methylprednisolone and reached a peak of severity more than two months after the final dose.

• Klíčová slova
• Corticosteroids, Methylprednisolone, Muscle relaxation, Myotonia, Myotonic dystrophy, Therapy,
• MeSH
• dospělí MeSH
• hormony kůry nadledvin aplikace a dávkování   MeSH
• lidé MeSH
• methylprednisolon aplikace a dávkování   MeSH
• myotonická dystrofie farmakoterapie   MeSH
• myotonie farmakoterapie   MeSH
• ulcerózní kolitida farmakoterapie   MeSH
• Check Tag
• dospělí MeSH
• lidé MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH
• práce podpořená grantem MeSH
• Názvy látek
• hormony kůry nadledvin MeSH
• methylprednisolon MeSH

• MeSH
• diagnostické zobrazování metody   MeSH
• dospělí MeSH
• lidé MeSH
• mícha patologie   MeSH
• mozek patologie   MeSH
• myotonická dystrofie MeSH
• myotonické poruchy komplikace   diagnóza   patologie   MeSH
• roztroušená skleróza komplikace   diagnóza   patologie   MeSH
• Check Tag
• dospělí MeSH
• lidé MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH

INTRODUCTION: The objective of this study was to develop a simple method for quantitative assessment of myotonia in patients with myotonic dystrophy type 1 (DM1) and DM2, to compare the myotonia severity, and to correlate this objective outcome with a subjective scale, the Myotonia Behaviour Scale (MBS). METHODS: A commercially available dynamometer was used for all measurements. The relaxation time after voluntary contraction was measured in 20 patients with DM1, 25 patients with DM2, and 35 healthy controls. RESULTS: The average relaxation time was 0.17 s in controls, 2.96 s in patients with DM1, and 0.4 s in patients with DM2. The correlation between relaxation time and MBS score was significant, 0.627 in patients with DM1 and 0.581 in patients with DM2. DISCUSSION: Our method provides a valid and reliable quantitative measure of grip myotonia suitable as an outcome measure in clinical trials and as part of routine examinations to gather data on the natural history of myotonic disorders. Muscle Nerve 59:431-435, 2019.

• Klíčová slova
• muscle relaxation, muscle strength dynamometer, myotonia, myotonic dystrophy, outcome measure, warm-up,
• MeSH
• chování MeSH
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladiství MeSH
• mladý dospělý MeSH
• myotonická dystrofie diagnóza   patofyziologie   psychologie   MeSH
• myotonie diagnóza   patofyziologie   MeSH
• relaxace svalu MeSH
• reprodukovatelnost výsledků MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• síla ruky MeSH
• svalová kontrakce MeSH
• svalová síla - dynamometr * MeSH
• svalová síla MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladiství MeSH
• mladý dospělý MeSH
• mužské pohlaví MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• validační studie MeSH

INTRODUCTION: Muscle magnetic resonance imaging (MRI) is an emerging method in the diagnosis and monitoring of muscular dystrophies. This cross-sectional, comparative study aimed to evaluate quantitative MRI (qMRI) parameters of the lumbar paraspinal muscles (LPM) in myotonic dystrophy type 2 (DM2), to assess their relationship with functional examination, and to evaluate their evolution with aging. METHODS: The study enrolled 37 DM2 patients and 90 healthy volunteers (HV) who were matched based on physiological parameters to create 35 pairs. Utilizing a 6-point Dixon gradient echo sequence MRI, fat fraction (FF), total muscle volume, and functional muscle volume (FMV) of the LPM and psoas muscle (PS) were obtained. Using correlation coefficients and regression models, the relationship between MRI and the maximal isometric lumbar extensor muscle strength (MILEMS) and lumbar extensor muscle endurance (LEME), and their evolution with age, were assessed. RESULTS: LPM showed significantly higher FF in DM2 patients compared to HV (21.3% vs. 11.3%, p-value <0.001). FMV of LPM correlated significantly with MILEMS (ρ = 0.5, p- value = 0.001) and FF with LEME (ρ = -0.49, p- value = 0.002) in DM2. No significant differences in the rate of deterioration in functional and morphological parameters of the LPM with age were observed between the two groups. CONCLUSION: We demonstrated morphological correlates of lumbar extensor muscle dysfunction in DM2 patients. The qMRI parameters of LPM correlated with functional parameters but could not be used either as a reliable biomarker of lumbar extensor muscle impairment or as a biomarker of disease progression.

• Klíčová slova
• endurance, magnetic resonace imaging, muscle strengh, myotonic dystrophy type 2, paraspinal muscles,
• Publikační typ
• časopisecké články MeSH

INTRODUCTION: Myotonic dystrophy type 2 (MD2) presents with a varied manifestation. Even though the myopathy in these patients is more widespread, axial musculature involvement is one of the most prominent conditions. MD2 patients also often report chronic low back pain (CLBP). The purpose of this study was to evaluate trunk muscle function, including respiratory muscles, in patients with MD2 and to compare it with healthy controls, to determine the occurrence of CLBP in patients with MD2, and to assess whether trunk muscle dysfunction increases the risk of CLBP in these patients. METHODS: We enrolled 40 MD2 patients (age range 23 to 76 years, 26 women). A comprehensive battery of tests was used to evaluate trunk muscle function. The tests consisted of quantitative muscle strength testing of low back extensor muscles and respiratory muscles and the assessment of trunk muscle endurance. A neurological evaluation contained procedures assessing the distribution of muscle weakness, myotonia, and pain, and used questionnaires focused on these items and on disability, depression, and physical activity. RESULTS: The results of this study suggest that patients with MD2 show significant dysfunction of the trunk muscles, including the respiratory muscles, expressed by decreased muscle strength and endurance. The prevalence of CLBP in patients with MD2 was 52.5%. Based on our analysis, the only independent significant risk factor for CLBP in these patients was maximal isometric lower back extensor strength in a prone position ≤ 15.8 kg (OR = 37.3). Other possible risk factors were severity of myotonia and reduced physical activity. CONCLUSION: Outcomes of this study highlighted the presence of axial muscle dysfunction, respiratory muscle weakness, and frequent occurrence of CLBP together with its risk factors in patients with MD2. We believe that the findings of this study may help in management and prevention programs for patients with MD2.

• Klíčová slova
• function tests, low back pain, muscle strength, muscular endurance, myotonic dystrophy type 2 (MD2), neuromuscular diseases (NMD), paraspinal muscles, respiratory muscles,
• Publikační typ
• časopisecké články MeSH

Some muscular dystrophies may have a negative impact on fertility. A decreased ovarian reserve is 1 of the factors assumed to be involved in fertility impairment. AMH (anti-Müllerian hormone) is currently considered the best measure of ovarian reserve.A total of 21 females with myotonic dystrophy type 1 (MD1), 25 females with myotonic dystrophy type 2 (MD2), 12 females with facioscapulohumeral muscular dystrophy (FSHD), 12 female carriers of Duchenne muscular dystrophy mutations (cDMD) and 86 age-matched healthy controls of reproductive age (range 18 - 44 years) were included in this case control study. An enzymatically amplified 2-site immunoassay was used to measure serum AMH level.The MD1 group shows a significant decrease of AMH values (median 0.7 ng/mL; range 0 - 4.9 ng/mL) compared with age-matched healthy controls (P < .01). AMH levels were similar between patients and controls in terms of females with MD2 (P = .98), FSHD (P = .55) and cDMD (P = .60).This study suggests decreased ovarian reserve in women with MD1, but not in MD2, FSHD and cDMD.

• MeSH
• antimülleriánský hormon krev   MeSH
• biologické markery krev   MeSH
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladý dospělý MeSH
• ovariální rezerva * MeSH
• prospektivní studie MeSH
• studie případů a kontrol MeSH
• svalové dystrofie krev   MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladý dospělý MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Názvy látek
• antimülleriánský hormon MeSH
• biologické markery MeSH