Background and purpose
Hereditary myopathies with limb‐girdle muscular weakness (LGW) are a genetically heterogeneous group of disorders, in which molecular diagnosis remains challenging. Our aim was ...to present a detailed clinical and genetic characterization of a large cohort of patients with LGW.
Methods
This nationwide cohort study included patients with LGW suspected to be associated with hereditary myopathies. Parameters associated with specific genetic aetiologies were evaluated, and we further assessed how they predicted the detection of causative variants by conducting genetic analyses.
Results
Molecular diagnoses were identified in 62.0% (75/121) of the cohort, with a higher proportion of patients diagnosed by next‐generation sequencing (NGS) than by single‐gene testing (77.3% vs. 22.7% of solved cases). The median (interquartile range) time from onset to genetic diagnosis was 8.9 (3.7–19.9) and 17.8 (7.9–27.8) years for single‐gene testing and NGS, respectively. The most common diagnoses were myopathies associated with variants in CAPN3 (n = 9), FKRP (n = 9), ANO5 (n = 8), DYSF (n = 8) and SGCA (n = 5), which together accounted for 32.2% of the cohort. Younger age at disease onset (p = 0.043), >10× elevated creatine kinase activity levels (p = 0.024) and myopathic electromyography findings (p = 0.007) were significantly associated with the detection of causative variants.
Conclusions
Our findings suggest that an earlier use of NGS in patients with LGW is needed to avoid long diagnostic delays. We further present parameters predictive of a molecular diagnosis that may help to select patients for genetic analyses, especially in centres with limited access to sequencing.
We provide a nationwide characterization of Austrian patients with limb‐girdle weakness. A molecular diagnosis was found in 62%, with CAPN3, FKRP, ANO5, DYSF and SGCA representing the five most common subtypes. Our data suggest an earlier use of NGS is needed to avoid diagnostic delays.
no study has examined the longitudinal association between hand-grip strength and mental health, such as depressive symptoms.
we investigated the relationship between baseline hand-grip strength and ...the risk of depressive symptoms.
a prospective cohort study.
a prospective cohort study with a 1-year follow-up was conducted using 4,314 subjects from community-dwelling individuals aged 40-79 years in two Japanese municipalities, based on the Locomotive Syndrome and Health Outcomes in Aizu Cohort Study (LOHAS, 2008-10).
we assessed baseline hand-grip strength standardised using national representative data classified by age and gender, and depressive symptoms at baseline and after the follow-up using the five-item version of the Mental Health Inventory (MHI-5).
the 4,314 subjects had a mean age of 66.3 years, 58.5% were women, and mean unadjusted hand-grip strength was 29.8 kg. Multivariable random-effect logistic regression analysis revealed that subjects with lower hand-grip strength (per 1SD decrease) had higher odds of having depressive symptoms at baseline adjusted odds ratio (AOR) 1.15, 95% confidence interval (CI) 1.06-1.24; P = 0.001. Further, lower hand-grip strength (per 1SD decrease) was associated with the longitudinal development of depressive symptoms after 1 year (AOR 1.13, 95% CI 1.01-1.27; P = 0.036).
using a large population-based sample, our results suggest that lower hand-grip strength, standardised using age and gender, is both cross-sectionally and longitudinally associated with depressive symptoms.
Purpose
Clinical observation suggests that hip abductor weakness is common in patients with low back pain (LBP). The purpose of this study is to describe and compare the prevalence of hip abductor ...weakness in a clinical population with chronic non-specific LBP and a matched sample without LBP.
Methods
One hundred fifty subjects with chronic non-specific LBP and a matched cohort of 75 control subjects were recruited. A standardized back and hip physical exam was performed. Specifically tensor fascia lata, gluteus medius, and gluteus maximus strength were assessed with manual muscle testing. Functional assessment of the hip abductors was performed with assessment for the presence of the Trendelenburg sign. Palpation examination of the back, gluteal and hip region was performed to try and reproduce the subject’s pain complaint. Friedman’s test or Cochran’s
Q
with post hoc comparisons adjusted for multiple comparisons was used to compare differences between healthy controls and people with chronic low back pain for both the affected and unaffected sides. Mann–Whitney
U
was used to compare differences in prevalence between groups. Hierarchical linear regression was used to identify predictors of LBP in this sample.
Results
Gluteus medius is weaker in people with LBP compared to controls or the unaffected side (Friedman’s test,
p
< 0.001). The Trendelenburg sign is more prevalent in subjects with LBP than controls (Cochran’s
Q
,
p
< 0.001). There is more palpation tenderness over the gluteals, greater trochanter, and paraspinals in people with low back pain compared to controls (Cochran’s
Q
,
p
< 0.001). Hierarchical linear regression, with BMI as a covariate, demonstrated that gluteus medius weakness, low back regional tenderness, and male sex were predictive of LBP in this sample.
Conclusion
Gluteus medius weakness and gluteal muscle tenderness are common symptoms in people with chronic non-specific LBP. Future investigations should validate these findings with quantitative measures as well as investigate the effect of gluteus medius strengthening in people with LBP.
ABSTRACT Inclusion body myositis is part of the group of inflammatory myopathies, representing 30% of this group of diseases, and is considered an orphan disease because its estimated prevalence is ...less than 5 per 10,000 inhabitants. It produces weakness and atrophy of the proximal and distal muscles. The pathophysiological mechanisms are mainly autoimmune, inflammatory, and degenerative. The cases are presented of two female patients who came to : the emergency department due to progressive loss of upper and lower limb strength, and progressive asymmetric muscle weakness.
La parálisis periódica hipocalemia es un trastorno autosómico dominante neuromuscular, que forma parte de un conjunto de enfermedades agrupadas conocidas como canalopatías. Estas diversas patologías ...se caracterizan por presentar mutaciones en los genes ubicados en los canales iónicos de sodio y calcio dependientes del voltaje, los cuales generan una inexitabilidad de la membrana muscular. Presentan diversas manifestaciones clínicas como episodios de parálisis y debilidad muscular de los cuatro miembros que puede durar horas, no obstante, suelen afectar principalmente a nivel de los miembros inferiores, relacionados con niveles bajos de potasio en sangre. Se describen dos genes causantes de las alteraciones en el voltaje denominados CACNA1S, SCN4A.
El diagnóstico se basa en la historia clínica y sintomatología, así como la confirmación mediante pruebas genéticas, la adecuada educación acerca de la identificación de los factores de riesgo, consejos dietéticos, cambios estilo de vida junto con intervenciones farmacológicas son el tratamiento de elección ideal.
Introduction
Inclusion body myositis (IBM), an inflammatory myopathy with progressive weakness without efficient treatment, typically presents after 45 years of age and younger patients are sparsely ...studied.
Methods
In a population-based study during a 33-year period, 142 patients with IBM were identified in western Sweden. Six patients fell outside the European Neuromuscular Centre 2011 criteria for IBM due to young age at symptom onset, verified by a muscle biopsy < 50 years of age. These were defined as early-onset IBM and included in this study. Medical records, muscle strength, comorbidities, muscle biopsies, and nuclear- and mitochondrial DNA were examined and compared with patients with IBM and age matched controls from the same population.
Results
The median age at symptom onset was 36 (range 34–45) years and at diagnosis 43 (range 38–58) years. Four patients were deceased at a median age of 59 (range 50–75) years. The median survival from diagnosis was 14 (range 10–18) years. The prevalence December 31 2017 was 1.2 per million inhabitants and the mean incidence 0.12 patients per million inhabitants and year. The mean decline in quadriceps strength ± 1 standard deviation was 1.21 ± 0.2 Newton or 0.91 ± 0.2% per month and correlated to time from diagnosis (p < 0.001). Five patients had swallowing difficulties. All patients displayed mitochondrial changes in muscle including cytochrome c oxidase deficiency and the mitochondrial DNA mutation load was high.
Conclusions
Early-onset IBM is a severe disease, causing progressive muscle weakness, high muscle mitochondrial DNA mutation load and a reduced cumulative survival in young and middle-aged individuals.
Muscular strength is a modifiable protective factor for mental health across aging populations. Evidence of sex-related differences in its associations with mental health is limited. Therefore, the ...purpose of this study was to examine sex-related differences in cross-sectional and prospective associations between grip strength and depressive symptoms and status. Participants were community dwelling adults (N = 4505; 56.5% female), aged ≥50 years. As a measure of muscular strength, grip strength (kg) of the dominant hand was assessed using a hand-held dynamometer at baseline. Participants were divided into sex-specific tertiles. The Center for Epidemiological Studies Depression Scale assessed depressive symptoms at baseline and two years later; a score of ≥16 defined caseness of depression. Depressive symptoms were significantly higher among females at baseline (p < 0.001). Prospective models were adjusted for age, sex, waist circumference, social class, smoking, and health status. Among males, the middle and high strength tertiles were non-significantly associated with 32.9% (p = 0.21) and 9.9% (p = 0.74) reduced odds of developing depression, respectively. Among females, the middle and high strength tertiles were non-significantly associated with 28.5% (p = 0.13) and significantly associated with 43.4% (p = 0.01) reduced odds of developing depression, respectively. In the total sample, the middle and high strength tertiles were significantly associated with 31.5% (p = 0.04) and 34.1% (p = 0.02) reduced odds of developing depression, respectively. The interaction between sex and strength was not statistically significant (p = 0.25). The present findings indicated that grip strength was inversely associated with incident depression in older adults, with stronger associations observed among females than males.
•Grip strength was inversely associated with prevalent and incident depression•Stronger prospective associations were observed among females than males•Smokers, respondents diagnosed with an illness, and those aged 70-79 and 80+ years were most likely to report lowest strength
•Grip strength is a modifiable factor previously associated with depressive symptoms.•Associations between grip strength and generalized anxiety disorder are unstudied.•Grip strength and GAD status ...assessed at baseline and 2-year follow-up in 3952 adults.•Grip strength was significantly, inversely associated with prevalent GAD at baseline.•Grip strength was non-significantly, inversely associated with GAD at 2-year follow-up.
Associations between grip strength and mental health disorders have been established; however, associations between grip strength and Generalized Anxiety Disorder (GAD) remain unstudied. Therefore, this study investigates associations between grip strength and prevalent and incident GAD.
A prospective cohort design was utilized. At baseline, participants aged ≥50 years (N = 3,952) completed a hand grip strength assessment and abbreviated Penn State Worry Questionnaire (PSWQ) and were divided into sex-specific tertiles based on strength. A score of ≥23 on the PSWQ defined caseness of GAD. At two-year follow-up, GAD was assessed with the Composite International Diagnostic Interview—Short Form.
Prevalence and incidence of GAD were 18.2% (N = 718) and 0.9% (N = 29), respectively. Adjusting for age, sex, waist circumference, social class, smoking status, and physical activity, a one-standard-deviation (1-SD) increase in strength was associated (OR, 95%CI) with 12.1% (OR = 0.88, 0.80–0.96; p < 0.01) lower odds of prevalent GAD, and middle and high strength tertiles were associated with 27.3% (OR = 0.73, 0.59–0.89; p < 0.01) and 23.1% (OR = 0.77, 0.62–0.95; p < 0.05) lower odds, respectively. A 1-SD increase in strength was non-significantly associated with 24.2% (OR = 0.76, 0.50–1.14) lower odds of incident GAD, and middle and high strength tertiles were non-significantly associated with 31.4% (OR = 0.69, 0.30–1.58) and 66.5% (OR = 0.34, 0.11–1.00) lower odds, respectively (all p > 0.05). There was no significant interaction between strength tertiles and sex.
The observational nature of the study limits inferring causality.
Increased hand grip strength may be associated with lower odds of developing GAD in older adults. Larger investigations of prospective associations are needed.
Introduction: Weakness of hip muscles is common in individuals with chronic non- specific low back pain (CNSLBP). Also, hip joint performance can be influenced by the weakness of hip muscles. This ...study aimed to compare the strength and performance of hip adductor and abductor muscles between subjects with and without CNSLBP and to investigate their association with disability level.
Materials and Methods: This case-control study included 41 participants with CNSLBP and 41 healthy participants. The strength of hip abductor and adductor muscles were measured using a dynamometer and their performance was assessed using the one-leg hop test. The disability level in the CNSLBP group was assessed using the oswestry disability index (ODI). Data were analyzed using an independent sample t test and Pearson correlation coefficient.
Results: No significant differences were observed between groups for hip muscle strength. One-leg hop test scores of the left lower extremity in the lateral direction were significantly higher in the CNSLBP group compared to the control group. Also, no significant relationships were observed between the total score of ODI and hip muscle strength or performance in the CNSLBP group.
Conclusion: It’s recommended that evaluation and exercise therapy of participants with CNSLBP be performed during functional performance tasks.
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