Search results for " weakness"

Therapeutic Potential of AntagomiR-23b for Treating Myotonic Dystrophy

2020

Myotonic dystrophy type 1 (DM1) is a chronically debilitating, rare genetic disease that originates from an expansion of a noncoding CTG repeat in the dystrophia myotonica protein kinase (DMPK) gene. The expansion becomes pathogenic when DMPK transcripts contain 50 or more repetitions due to the sequestration of the muscleblind-like (MBNL) family of proteins. Depletion of MBNLs causes alterations in splicing patterns in transcripts that contribute to clinical symptoms such as myotonia and muscle weakness and wasting. We previously found that microRNA (miR)-23b directly regulates MBNL1 in DM1 myoblasts and mice and that antisense technology (“antagomiRs”) blocking this microRNA (miRNA) boost…

IMPACT OF CARTILAGE DAMAGE ON ARTHROGENIC MUSCLE INHIBITION IN PATIENTS WITH MENISCUS INJURIES

2016

Background: Knee traumata are associated with arthrogenic muscle inhibition (AMI). We aimed to identify impact factors on AMI. Methods: A total of 37 patients with meniscus injuries were interviewed and examined for maximum isometric knee extensor force preoperatively. We analyzed AMI as relative maximum isometric force between healthy and injured legs. Regression analyses were computed to evaluate associations between an AMI with muscle-strength reduction [Formula: see text]% and several parameters and between cartilage damage[Formula: see text][Formula: see text][Formula: see text]stadium 3 and several parameters. ROC curves were calculated to investigate effectiveness of age and pain at…

INFLUENCE OF FLOOR TYPE ON THE INCIDENCE AND SEVERITY OF LEG WEAKNESS SYNDROME (LWS) AND OF ARTICULAR OSTEOCHONDROSIS (OC) IN ITALIAN HEAVY PIG.

2004

Dermatomyositis induced by the secretion of Phyllomedusa bicolor or Kambô frog - A case report

2020

The Amazonian Kambô frog, Phyllomedusa bicolor, is commonly known for the potential benefits of its secretion. The Kambô ritual consists in applying the toxin directly to a freshly burnt skin area, since it is believed by natives and shamans to purify and strengthen the body and mind of the user. We describe a 33-year old female with a history of periodic use of Kambô toxin who presented with a 3-week course of asthenia, malaise, myalgia, and proximal muscle weakness predominantly in the lower limbs. She had elevated muscle enzymes and an abnormal electromyography. We used the 2017 European League Against Rheumatism and American College of Rheumatology classification criteria to establish t…

The Relevance of Dual Tasking for Improving Trunk Muscle Endurance After Back Surgery

2021

Abstract Objective To determine the effect of dual tasking on trunk muscle endurance in patients after lumbar diskectomy. Design Cross-sectional study. Setting Rehabilitation hospital setting. Participants Individuals (N=14) undergoing primary lumbar diskectomy. Intervention Using a randomized design on 2 separate days, muscle endurance was evaluated during prone bridging and Biering-Sorensen tests. Each test was randomly performed under 2 cognitive conditions: single task without cognitive condition and self-regulated dual task (ie, mathematical task). Main Outcome Measures The primary outcomes were time to failure and pain assessed by the visual analog scale from 0 to 100 mm. The secondar…

Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene.

2000

Emery-Dreifuss muscular dystrophy (EDMD) is characterized by early contractures of the elbows and Achilles tendons, slowly progressive muscle wasting and weakness, and life-threatening cardiomyopathy with conduction blocks. We recently identified LMNA encoding two nuclear envelope proteins, lamins A and C, to be implicated in the autosomal dominant form of EDMD. Here, we report on the variability of the phenotype and spectrum of LMNA mutations in 53 autosomal dominant EDMD patients (36 members of 6 families and 17 sporadic cases). Twelve of the 53 patients showed cardiac involvement exclusively, although the remaining 41 all showed muscle weakness and contractures. We were able to identify …

A series of West European patients with severe cardiac and skeletal myopathy associated with a de novo R406W mutation in desmin.

2003

Desminopathy is a familial or sporadic cardiac and skeletal muscular dystrophy associated with mutations in desmin. We have previously characterized a de novo desmin R406W mutation in a patient of European origin with early onset muscle weakness in the lower extremities and atrioventricular conduction block requiring a permanent pacemaker. The disease relentlessly progressed resulting in severe incapacity within 5 years after onset. We have now identified three other patients with early onset rapidly progressive cardiac and skeletal myopathy caused by this same desmin R406W mutation. The mutation was present in each studied patient, but not in their parents or other unaffected family member…

Successful application of preimplantation genetic diagnosis for hypokalaemic periodic paralysis.

2009

Hypokalaemic periodic paralysis is a rare dominant inherited disease where a person suffers sudden falls of circulating potassium concentrations, producing muscle weakness and sometimes severe paralysis. Attacks can occur as frequently as several times a day or once in a year. The age of onset is usually adolescence but symptoms can appear as early as 10 years of age. Muscle weakness can compromise vital functions such as breathing or swallowing and heart arrhythmias are also frequent during attacks. Preimplantation genetic diagnosis, an early form of prenatal diagnosis for couples at risk of transmitting inherited diseases, was used to prevent the transmission of this disease. Six polymorp…

Neuromuscular electrophysiological disorders and muscle atrophy in mechanically-ventilated traumatic brain injury patients: New insights from a prosp…

2018

International audience; Erratum inCorrigendum to "Neuromuscular electrophysiological disorders and muscle atrophy in mechanically-ventilated traumatic brain injury patients: New insights from a prospective observational study" [J Crit Care 44 (2018) 87-94]. [J Crit Care. 2019]AbstractPURPOSE:It is unclear whether the muscular changes in mechanically-ventilated traumatic brain injury patients (TBI) are only associated with disuse or additionally to neuromuscular electrophysiological disorders (NED). The correlation between muscle atrophy and NED may affect functional outcomes and rehabilitation programs significantly.MATERIAL AND METHODS:An observational study was performed to investigate th…

Symptom prevalence in the last days of life in Germany: the role of place of death.

2011

Investigations have shown that symptom prevalence varies according to the place of death. We sought to assess the symptom prevalence of chronically ill people in Germany and how this prevalence differs depending on the place of death. We sent questionnaires to 5000 bereaved people in Rhineland-Palatinate (Germany), whose relatives died between May 25 and August 24, 2008. In all, 3832 questionnaires were delivered and 1378 completed (response 36.0%). Most decedents had moderate-to-severe weakness (94.5%), fatigue (93.5%), need for help in daily activities (87.9%), and appetite loss (87.4%). Pain and dyspnea were most severe in hospitals; fatigue, confusion/disorientation, and problems with w…