Phenotypic Spectrum of Myopathies with Recessive Anoctamin-5 Mutations

Background: Biallelic variants in Anoctamin 5 (ANO5) gene are causative of limb-girdle muscular dystrophy (LGMD) R12 anoctamin5-related, non-dysferlin Miyoshi-like distal myopathy (MMD3), and asymptomatic hyperCKemia. Objective: To describe clinic, histologic, genetic and imaging features, of ANO5 mutated patients. Methods: Five patients, four from France (P1, P2, P3 and P4) and one from Mexico (P5), from four families were included. P1 and P2, belonging to group 1, had normal muscle strength; Group 2, P3, P4 and P5, presented with muscular weakness. Muscle strength was measured by manual muscle testing, Medical Research Council (MRC) grades 1/5 to 5/5. Laboratory exams included serum CK levels, nerve conduction studies (NCS)/needle electromyography (EMG), pulmonary function tests, EKG and cardiac ultrasound. ANO5 molecular screening was performed with different approaches. Results: Group 1 patients showed myalgias with hyperCKemia or isolated hyperCKemia. Group 2 patients presented with limb-girdle or proximo-distal muscular weakness. Serum CK levels ranged from 897 to 5000 UI/L. Muscle biopsy analysis in P4 and P5 showed subsarcolemmal mitochondrial aggregates. Electron microscopy confirmed mitochondrial proliferation and revealed discontinuity of the sarcolemmal membrane. Muscle MRI showed asymmetrical fibro-fatty substitution predominant in the lower limbs. P1 and P2 were compound heterozygous for c.191dupA (p.Asn64Lysfs*15) and c.1898 + G>A; P3 was homozygous for the c.692G>T. (p.Gly231Val); P4 harbored a novel biallelic homozygous exons 1–7 ANO5 gene deletion, and P5 was homozygous for a c.172 C > T (p.(Arg 58 Trp)) ANO5 pathogenic variant. Conclusions: Our cohort confirms the wide clinical variability and enlarge the genetic spectrum of ANO5-related myopathies.

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Manual Muscle Testing: A Method of Measuring Extremity Muscle Strength Applied to Critically Ill Patients

Journal of Visualized Experiments ◽

10.3791/2632 ◽

2011 ◽

Cited By ~ 7

Author(s):

Nancy Ciesla ◽

Victor Dinglas ◽

Eddy Fan ◽

Michelle Kho ◽

Jill Kuramoto ◽

...

Keyword(s):

Muscle Strength ◽

Critically Ill ◽

Critically Ill Patients ◽

Manual Muscle Testing ◽

Muscle Testing

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Comparison of Clinical and Radiological Parameters with Two Different Surgical Methods for Anterior Cruciate Ligament Reconstruction

Orthopaedic Journal of Sports Medicine ◽

10.1177/2325967114s00272 ◽

2014 ◽

Vol 2 (11_suppl3) ◽

pp. 2325967114S0027

Author(s):

Osman Çiloğlu ◽

Hakan Çiçek ◽

Ahmet Yılmaz ◽

Metin Özalay ◽

Gökhan Söker ◽

...

Keyword(s):

Anterior Cruciate Ligament ◽

Muscle Strength ◽

Surgical Technique ◽

Femoral Tunnel ◽

Cruciate Ligament ◽

Tunnel Widening ◽

Isokinetic Muscle Strength ◽

Group 2 ◽

Anterior Cruciate ◽

Group 1

Objectives: We investigated the effects anatomic or nonanatomic femoral tunnel positions and tunnel fixation methods obtained using two different surgery methods on tunnel widening and clinical results in anterior cruciate ligament (ACL) reconstructions. Methods: Patients with isolated anterior cruciate ligament rupture are included to study who don’t have intra-and extra-articular additional pathology of the knee, without previously a history of operations of both knees. 2 groups were created. Group 1 Aperfix implant were used which can be able to perform non anatomical femoral tunnel and intra tunnel fixation with transtibial technique. In Group 2 Endobutton CL implant were used which can make fixation from outside the cortex with anatomic femoral tunnel in use of anteromedial portal techniques. 27 patients (average age 29,33, range 18 to 55 years) in group 1 and 27 patients (average age 27,51, range 16 to 45 years) in group 2 totally 54 patients were performed surgery. All patients were assessed using the IKDC (International knee documentation committee), Tegner Activity Scala and Lysholm II Functional Scores. Muscle strength measurements in both groups compared to intact knee was measured with an isokinetic dynamometer Biodex System 3 Pro. The location of the femoral tunnel aperture and tunnel widening were imaged with 3D reconstructive computed tomography. All measurements were performed using the same software application by the same radiologist. Results: The two groups were similar with respect to age and sex distribution, operated side, the size of the tunnel created, and follow-up period (p>0.05). After surgery in both groups, the clinical scores showed significant improvement compared to preoperative (p=0,0001). However, postoperative clinical outcomes in the two groups did not show a difference significantly (p>0,005). Isokinetic muscle strength study showed significant differences between the two groups (p=0,0001). Location of femoral tunnel aperture on the medial wall of the lateral femoral condyle showed a significant differences in the two groups (p=0,0001). The expansion of proximal and distal femoral tunnel in two groups showed significant differences (p=0,0001). There was relationship between distal femoral tunnel widening and location of femoral tunnel aperture. Conclusion: Although there is no statistically significant difference between the two groups clinically, difference noticed in terms of isokinetic muscle strength may be due to differences in the degree of shift as a result of multiple loading depending on the biomechanical properties of materials. We thought that the difference seen in the widening of tunnel in the proximal or distal may be due to, the technique of graft fixation, the distance between the fixation point and the joint, and to the location of the femoral tunnel aperture on medial wall of lateral condyle from anatomical or non anatomical region. There is no golden standard in neither surgical technique nor material of fixation. Proper theoretical knowledge and extensive clinical experience are important in the light of an accurate surgical technique applied. We thought that information we have reached in our study should be supported by biomechanical studies

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Effect of Isometric and Isotonic Exercise Program on Increased Strength of Quardriceps Muscles in Osteoarthritis Patients in Singgasana Rama Physiotherapy Clinic Blitar

JOURNAL FOR QUALITY IN PUBLIC HEALTH ◽

10.30994/jqph.v5i1.246 ◽

2021 ◽

Vol 5 (1) ◽

pp. 42-48

Author(s):

Irwan Syahputra ◽

Nurwijayanti Nurwijayanti

Keyword(s):

Muscle Strength ◽

Exercise Program ◽

Quadriceps Strength ◽

Manual Muscle Testing ◽

Moderate Intensity ◽

Rank Test ◽

Control Group ◽

Isometric Training ◽

Muscle Testing ◽

Isotonic Exercise

Background: Osteoarthritis is a disease of the joints that can cause disability and is progressive in the joints which cause changes in the water content, proteoglycin content, and collagen in the joints. One of the ways to improve functional ability in osteoarthritis cases is to use isotonic and isometric training exercise. Pain is a clinical symptom of knee osteoarthritis, limiting movement due to pain over time will cause rehabilitation problems such as impaired flexibility and stability, reduction of muscle mass (atrophy). Mild and moderate intensity quadriceps strength training is effective at achieving optimal muscle strength and function without causing significant muscle damage. Destination: The purpose of this study was to analyze the effect of isotonic and isometric exercises on muscle strength. Research methods: This study uses a pre-experimental research type using "One Group Pre - test and Post - Test". This research has carried out the first observation (pretest) so that researchers can test the changes that occur after the treatment, and the control group. Result: with the Wilcoxon signed rank test test the isometric and isotonic groups had p = 0.000 while the control group had a significance value of p = 1,000; and the 3 groups test has different values, namely: isotonic exercise has a value of 27.67; isometric; 28.60; and control 12.73. The conclusion that can be concluded that the value of isometric training has the highest value, namely 28.60 which means it is the most effective exercise to increase the value of Manual Muscle Testing. Conclusion: There is an effect of giving isometric and isotonic exercises in strengthening the quadriceps muscles.

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Analysis of therapy effectiveness of deep vein thrombosis of lower limbs with warfarin and rivaroxaban in the long-term period

Тромбоз, гемостаз и реология ◽

10.25555/thr.2020.1.0910 ◽

2020 ◽

Author(s):

А.А. Полянцев ◽

Д.В. Фролов ◽

Д.В. Линченко ◽

Ю.В. Щелокова ◽

Т.А. Литвинова ◽

...

Keyword(s):

Deep Vein Thrombosis ◽

Oral Anticoagulants ◽

Lower Limbs ◽

Prophylactic Regimen ◽

Therapy Regimen ◽

Vein Thrombosis ◽

Group 2 ◽

Deep Vein ◽

Group 1

Введение. Влияние стандартной и альтернативных схем антикоагулянтной терапии на степень и скорость реканализации глубоких вен привлекает внимание современных исследователей. Цель исследования: сравнение эффективности терапии тромбоза глубоких вен (ТГВ) нижних конечностей варфарином и ривароксабаном в отдаленном периоде. Материалы и методы. В исследование включено 94 пациента с ТГВ нижних конечностей, которые были разделены на 2 группы в зависимости от назначенной схемы лечения. Средний возраст 50 пациентов группы 1 составил 44,0 12,6 лет, 44 больных группы 2 39,5 11,7 лет. Пациентам группы 1 был назначен варфарин, группы 2 ривароксабан в течение 6 мес после выписки. Конечная точка наблюдения 4 года. Результаты. Прием антикоагулянта ранее установленного срока прекратили 18 (36) пациентов из группы 1 и 2 (4,5) пациента из группы 2. Режим эластической компрессии в обеих группах пациенты соблюдали нерегулярно. Рецидив венозных тромбоэмболических осложнений в группе 1 отмечен в 11 (22) случаях, в группе 2 у 7 (15,9) пациентов. Отрицательная динамика ультразвукового обследования складывалась у пациентов обеих групп: у 16 пациентов группы 1 и у 9,1 группы 2 появились признаки поражения ранее неизмененных вен или окклюзия ранее проходимой вены после перенесенного тромбоза без клиники острого венозного тромбоза в анамнезе. Трофические расстройства отмечены у одного пациента группы 2 и у 1/3 пациентов группы 1 к четвертому году наблюдения. Значимые отличия между группами были получены по таким параметрам, как приверженность к лечению и степень тяжести венозной недостаточности, оцениваемая клинически, в пользу ривароксабана. Заключение. Неудовлетворительные результаты лечения при использовании стандартной схемы терапии ТГВ требуют назначения препаратов из группы новых оральных антикоагулянтов с возможным внедрением схемы профилактического приема. Introduction. Effect of standard and alternative anticoagulant therapy regimens on the degree and rapidity of deep vein recanalization attracts the attention of modern researchers. Aim: to compare the treatment effectiveness of deep vein thrombosis (DVT) of lower limbs with warfarin and rivaroxaban in the long-term period. Materials and methods. The study included 94 patients with DVT of lower limbs they were divided into 2 groups depending on the prescribed treatment regimen. The average age of 50 patients of group 1 was 44.0 12.6 years, 44 patients of group 2 39.5 11.7 years. Warfarin was prescribed to patients of group 1, rivaroxaban to patients of group 2 treatment was prescribed for 6 months after discharge. The endpoint of observation was 4 years. Results. 18 (36) patients from group 1 and 2 (4.5) patients from group 2 stopped taking the anticoagulant earlier than target date. Elastic compression treatment patients in both groups kept irregularly. Recurrence of venous thromboembolic complications in group 1 was noted in 11 (22) cases, in group 2 in 7 (15.9) patients. The negative ultrasound dynamics was observed in patients of both groups: 16 of patients in group 1 and 9.1 in group 2 had lesion signs of previously unchanged veins or occlusion of a previously passable vein after thrombosis without clinic of acute venous thrombosis. Trophic disorders were identified in 1 patient in group 2 and in 1/3 of patients in group 1 by the 4th year of observation. Significant differences between the groups were obtained in favor of rivaroxaban according to such parameters as adherence to treatment and the severity of venous insufficiency. Conclusion. Unsatisfactory results of DVT treatment with standard therapy regimen require the administration of new oral anticoagulants with the possible introduction of prophylactic regimen.

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Hand-held dynamometry for assessment of muscle strength in patients with inflammatory myopathies

Rheumatology ◽

10.1093/rheumatology/keaa419 ◽

2020 ◽

Author(s):

Didem Saygin ◽

Chester V Oddis ◽

Siamak Moghadam-Kia ◽

Bonny Rockette-Wagner ◽

Nicole Neiman ◽

...

Keyword(s):

Muscle Strength ◽

Disease Activity ◽

Neuromuscular Disorders ◽

Strong Association ◽

External Validation ◽

Manual Muscle Testing ◽

Inflammatory Myopathies ◽

University Of Pittsburgh ◽

Muscle Testing ◽

The University

Abstract Objectives Muscle weakness in idiopathic inflammatory myopathies (IIMs) is conventionally assessed using manual muscle testing (MMT). However, more objective tools must be developed to accurately and reliably quantify muscle strength in myositis patients. Hand-held dynamometry (HHD) is a quantitative, portable device with reported reliability in neuromuscular disorders. Our aim was to assess the reliability, validity and responsiveness of HHD in myositis. Methods Myositis patients [DM, necrotizing myopathy (NM), PM and anti-synthetase syndrome] evaluated at the University of Pittsburgh myositis centre were prospectively enrolled. Each patient was assessed at 0, 3 and 6 months for validated outcome measures of myositis disease activity and physical function. At each visit, muscle strength was assessed using both MMT and HHD (Micro FET2, Hoggan Health Industries, Draper, UT, USA). The reliability, validity and responsiveness of the HHD was assessed using standard statistical methods. Results Fifty IIM patients (60% female; mean age 51.6 years; 6 PM, 9 NM, 24 DM and 11 anti-synthetase syndrome) were enrolled. HHD showed strong test–retest intrarater reliability (r = 0.96) and interrater reliability (r = 0.98). HHD correlated significantly with the MMT score (r = 0.48, P = 0.0006) and myositis disease activity and functional measures. Longitudinal analysis showed a significant and strong association between the HHD and MMT as well as 2016 ACR/EULAR myositis response criteria (r = 0.8, P < 0.0001) demonstrating responsiveness. The mean effect size and standardized response mean of HHD was large: 0.95 and 1.03, respectively. MMT had a high ceiling effect compared with HHD. Conclusion HHD demonstrated strong reliability, construct validity and responsiveness in myositis patients. External validation studies are required to confirm these findings.

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Large variation in effects during 10 years of enzyme therapy in adults with Pompe disease

Neurology ◽

10.1212/wnl.0000000000008441 ◽

2019 ◽

Vol 93 (19) ◽

pp. e1756-e1767 ◽

Cited By ~ 12

Author(s):

Laurike Harlaar ◽

Jean-Yves Hogrel ◽

Barbara Perniconi ◽

Michelle E. Kruijshaar ◽

Dimitris Rizopoulos ◽

...

Keyword(s):

Muscle Strength ◽

Pulmonary Function ◽

Pompe Disease ◽

Manual Muscle Testing ◽

Controlled Clinical Trial ◽

Walking Ability ◽

Enzyme Replacement ◽

Link Type ◽

Muscle Testing

ObjectiveTo determine the effects of 10 years of enzyme replacement therapy (ERT) in adult patients with Pompe disease, focusing on individual variability in treatment response.MethodsIn this prospective, multicenter cohort study, we studied 30 patients from the Netherlands and France who had started ERT during the only randomized placebo-controlled clinical trial with ERT in late-onset Pompe disease (NCT00158600) or its extension (NCT00455195) in 2005 to 2008. Main outcomes were walking ability (6-minute walk test [6MWT]), muscle strength (manual muscle testing using Medical Research Council [MRC] grading), and pulmonary function (forced vital capacity [FVC] in the upright and supine positions), assessed at 3- to 6-month intervals before and after the start of ERT. Data were analyzed with linear mixed-effects models for repeated measurements.ResultsMedian follow-up duration on ERT was 9.8 years (interquartile range [IQR] 8.3–10.2 years). At the group level, baseline 6MWT was 49% of predicted (IQR 41%–60%) and had deteriorated by 22.2 percentage points (pp) at the 10-year treatment point (p < 0.001). Baseline FVC upright was 54% of predicted (IQR 47%–68%) and decreased by 11 pp over 10 years (p < 0.001). Effects of ERT on MRC sum score and FVC supine were similar. At the individual level, 93% of patients had initial benefit of ERT. Depending on the outcome measured, 35% to 63% of patients had a secondary decline after ≈3 to 5 years. Still, at 10 years of ERT, 52% had equal or better 6MWT and/or FVC upright compared to baseline.ConclusionsThe majority of patients with Pompe disease benefit from long-term ERT, but many patients experience some secondary decline after ≈3 to 5 years. Individual variation, however, is considerable.Classification of evidenceThis study provides Class IV evidence that for the majority of adults with Pompe disease, long-term ERT positively affects, or slows deterioration in, muscle strength, walking ability, and/or pulmonary function.

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Assessing the Validity and Reliability of A Low-Cost Microcontroller-Based Load Cell Amplifier for Measuring Lower Limb and Upper Limb Muscular Force

Sensors ◽

10.3390/s20174999 ◽

2020 ◽

Vol 20 (17) ◽

pp. 4999

Author(s):

Julie Gaudet ◽

Grant Handrigan

Keyword(s):

Muscle Strength ◽

Upper Limb ◽

Low Cost ◽

Load Cell ◽

Manual Muscle Testing ◽

Muscular Force ◽

Validity And Reliability ◽

Important Indicator ◽

Muscle Testing ◽

Isometric Muscle

Lower and upper limb maximum muscular force development is an important indicator of physical capacity. Manual muscle testing, load cell coupled with a signal conditioner, and handheld dynamometry are three widely used techniques for measuring isometric muscle strength. Recently, there is a proliferation of low-cost tools that have potential to be used to measure muscle strength. This study examined both the criterion validity, inter-day reliability and intra-day reliability of a microcontroller-based load cell amplifier for quantifying muscle strength. To do so, a low-cost microcontroller-based load cell amplifier for measuring lower and upper limb maximal voluntary isometric muscular force was compared to a commercial grade signal conditioner and to a handheld dynamometer. The results showed that the microcontroller-based load cell amplifier correlated nearly perfectly (Pearson's R-values between 0.947 to 0.992) with the commercial signal conditioner and the handheld dynamometer, and showed good to excellent association when calculating ICC scores, with values of 0.9582 [95% C.I.: 0.9297–0.9752] for inter-day reliability and of 0.9269 [95% C.I.: 0.8909–0.9533] for session one, intra-day reliability. Such results may have implications for how the evaluation of muscle strength measurement is conducted in the future, particularly for offering a commercial-like grade quality, low cost, portable and flexible option.

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