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Annals of Physical and Rehabilitation... Jan 2021Several studies reported the importance of glenohumeral and scapular muscle activity and scapular kinematics in multidirectional shoulder instability (MDI), yet a... (Review)
Review
BACKGROUND
Several studies reported the importance of glenohumeral and scapular muscle activity and scapular kinematics in multidirectional shoulder instability (MDI), yet a systematic overview is currently lacking.
OBJECTIVE
This systematic review evaluates and summarizes the evidence regarding muscle activity and shoulder kinematics in individuals with MDI compared to healthy controls.
METHOD
The electronic databases PubMed and Web of Science were searched in September 2020 with key words regarding MDI (population), muscle activity, and glenohumeral and scapular movement patterns (outcomes). All studies that compared muscle activity or scapular kinematics between shoulders with MDI and healthy shoulders were eligible for this review, except for case reports and case series. All articles were screened on the title and abstract, and remaining eligible articles were screened on full text. The risk of bias of included articles was assessed by a checklist for case-control data, as advised by the Cochrane collaboration.
RESULTS
After full text screening, 12 articles remained for inclusion and one study was obtained by hand search. According to the guidelines of the Dutch Institute for Healthcare Improvement, most studies were of moderate methodological quality. We found moderate evidence that MDI individuals show increased or prolonged activity of several rotator cuff muscles that control and centre the humeral head. Furthermore, we found evidence of decreased and/or shortened activity of muscles that move or accelerate the arm and shoulder girdle as well as increased and/or lengthened activity of muscles that decelerate the arm and shoulder girdle. The most consistent kinematic finding was that MDI individuals show significantly less upward rotation and more internal rotation of the scapula during elevation of the arm in the scapular plane as compared with controls. Finally, several studies also suggest that the humeral head demonstrates increased translations relative to the glenoid surface.
CONCLUSION
There is moderate evidence for altered muscle activity and altered humeral and scapular kinematics in MDI individuals as compared with controls.
Topics: Biomechanical Phenomena; Humans; Joint Instability; Muscle, Skeletal; Range of Motion, Articular; Scapula; Shoulder; Shoulder Joint
PubMed: 33221471
DOI: 10.1016/j.rehab.2020.10.008 -
European Journal of Physical and... Jun 2018The pertinent literature lacks overt technical data for optimal upper limb muscle botulinum toxin injections using ultrasound (US) imaging. Therefore, this guide is... (Review)
Review
The pertinent literature lacks overt technical data for optimal upper limb muscle botulinum toxin injections using ultrasound (US) imaging. Therefore, this guide is prepared for the commonly injected muscles of the upper limb and the shoulder girdle mainly in spasticity. It includes clinical information, anatomical description and explanation regarding the US imaging of several muscles. The figures have been organized to orient the readers on the innervation, injection sites, probe positioning and the US images simultaneously.
Topics: Botulinum Toxins, Type A; Female; Humans; Injections, Intralesional; Injections, Intramuscular; Male; Muscle Spasticity; Prognosis; Spasm; Treatment Outcome; Ultrasonography, Doppler; Upper Extremity
PubMed: 28264546
DOI: 10.23736/S1973-9087.17.04664-0 -
European Journal of Physical and... Jun 2018The pertinent literature lacks overt technical data for optimal lower limb muscle botulinum toxin injections using ultrasound (US) imaging. Therefore, this guide is... (Review)
Review
The pertinent literature lacks overt technical data for optimal lower limb muscle botulinum toxin injections using ultrasound (US) imaging. Therefore, this guide is prepared for the commonly injected muscles of the lower limb and the pelvic girdle mainly in spasticity. It includes clinical information, anatomical description and explanation regarding the US imaging of several muscles. The figures have been organized to orient the readers on the innervation zones, injection sites, probe positionings and the US images simultaneously.
Topics: Botulinum Toxins, Type A; Female; Humans; Injections, Intralesional; Injections, Intramuscular; Lower Extremity; Male; Muscle Spasticity; Prognosis; Spasm; Treatment Outcome; Ultrasonography, Doppler
PubMed: 28382814
DOI: 10.23736/S1973-9087.17.04667-6 -
PloS One 2017This study aimed to study the diagnostic value of targeted next-generation sequencing (NGS) in limb-girdle muscular dystrophies (LGMDs), and investigate the mutational...
This study aimed to study the diagnostic value of targeted next-generation sequencing (NGS) in limb-girdle muscular dystrophies (LGMDs), and investigate the mutational spectrum of Chinese LGMD patients. We performed targeted NGS covering 420 genes in 180 patients who were consecutively suspected of LGMDs and underwent muscle biopsies from January 2013 to May 2015. The association between genotype and myopathological profiles was analyzed in the genetically confirmed LGMD patients. With targeted NGS, one or more rare variants were detected in 138 patients, of whom 113 had causative mutations, 10 sporadic patients had one pathogenic heterozygous mutation related to a recessive pattern of LGMDs, and 15 had variants of uncertain significance. No disease-causing mutation was found in the remaining 42 patients. Combined with the myopathological findings, we achieved a positive genetic diagnostic rate as 68.3% (123/180). Totally 105 patients were diagnosed as LGMDs with genetic basis. Among these 105 patients, the most common subtypes were LGMD2B in 52 (49.5%), LGMD2A in 26 (24.8%) and LGMD 2D in eight (7.6%), followed by LGMD1B in seven (6.7%), LGMD1E in four (3.8%), LGMD2I in three (2.9%), and LGMD2E, 2F, 2H, 2K, 2L in one patient (1.0%), respectively. Although some characteristic pathological changes may suggest certain LGMD subtypes, both heterogeneous findings in a certain subtype and overlapping presentations among different subtypes were not uncommon. The application of NGS, together with thorough clinical and myopathological evaluation, can substantially improve the molecular diagnostic rate in LGMDs. Confirming the genetic diagnosis in LGMD patients can help improve our understanding of their myopathological changes.
Topics: Adolescent; Adult; Asian People; Child; Child, Preschool; China; Female; Genotype; Heterozygote; High-Throughput Nucleotide Sequencing; Humans; Male; Muscles; Muscular Dystrophies, Limb-Girdle; Mutation; Young Adult
PubMed: 28403181
DOI: 10.1371/journal.pone.0175343 -
Cells Feb 2020Ferlins are multiple-C2-domain proteins involved in Ca2+-triggered membrane dynamics within the secretory, endocytic and lysosomal pathways. In bony vertebrates there... (Review)
Review
Ferlins are multiple-C2-domain proteins involved in Ca2+-triggered membrane dynamics within the secretory, endocytic and lysosomal pathways. In bony vertebrates there are six ferlin genes encoding, in humans, dysferlin, otoferlin, myoferlin, Fer1L5 and 6 and the long noncoding RNA Fer1L4. Mutations in (dysferlin) can cause a range of muscle diseases with various clinical manifestations collectively known as dysferlinopathies, including limb-girdle muscular dystrophy type 2B (LGMD2B) and Miyoshi myopathy. A mutation in (myoferlin) was linked to a muscular dystrophy accompanied by cardiomyopathy. Mutations in (otoferlin) can be the cause of nonsyndromic deafness DFNB9. Dysregulated expression of any human ferlin may be associated with development of cancer. This review provides a detailed description of functions of the vertebrate ferlins with a focus on muscle ferlins and discusses the mechanisms leading to disease development.
Topics: Animals; Humans; Muscular Dystrophies, Limb-Girdle; Vertebrates
PubMed: 32106631
DOI: 10.3390/cells9030534 -
Neurodegenerative Disease Management Oct 2021Limb-girdle muscular dystrophies (LGMDs) represent a major group of muscle disorders. Treatment is sorely needed and currently expanding based on safety and efficacy... (Review)
Review
Limb-girdle muscular dystrophies (LGMDs) represent a major group of muscle disorders. Treatment is sorely needed and currently expanding based on safety and efficacy adopting principles of single-dosing gene therapy for monogenic autosomal recessive disorders. Gene therapy has made in-roads for LGMD and this review describes progress that has been achieved for these conditions. This review first provides a background on the definition and classification of LGMDs. The major effort focuses on progress in LGMD gene therapy, from experimental studies to clinical trials. The disorders discussed include the LGMDs where the most work has been done including calpainopathies (LGMD2A/R1), dysferlinopathies (LGMD2B/R2) and sarcoglycanopathies (LGMD2C/R5, LGMD2D/R3, LGMD2E/R4). Early success in clinical trials provides a template to move the field forward and potentially apply emerging technology like CRISPR/Cas9 that may enhance the scope and efficacy of gene therapy applied to patient care.
Topics: Humans; Muscular Dystrophies, Limb-Girdle; Sarcoglycanopathies
PubMed: 34472379
DOI: 10.2217/nmt-2020-0066 -
Journal of Rehabilitation Medicine Mar 2017To investigate the effect of a supervised, structured exercise programme on the occurrence and severity of pregnancy-related lumbopelvic pain. (Randomized Controlled Trial)
Randomized Controlled Trial
OBJECTIVE
To investigate the effect of a supervised, structured exercise programme on the occurrence and severity of pregnancy-related lumbopelvic pain.
DESIGN
Randomized controlled trial.
SUBJECTS
A total of 45 pregnant women were randomly assigned to 2 groups: an experimental group (n = 20; mean age 32.8 (standard deviation (SD) 3.6) years) and a control group (n = 22; mean age 32.2 years (SD 4.9)).
METHODS
Exercise intervention for the experimental group consisted of aerobic and resistance exercises performed bi-weekly from the date of inclusion into the study until the end of pregnancy, together with at least 30 min of brisk daily walks. A numeric rating scale, Roland-Morris Disability Questionnaire (RMDQ), and Pelvic Girdle Questionnaire (PGQ) were used to measure outcomes. The control group received only standard antenatal care.
RESULTS
There were significant differences between the 2 groups on the numeric rating scale, PGQ and RMDQ scores in the 36th week of pregnancy (p = 0.017; p = 0.005; p < 0.001, respectively) in favour of the experimental group.
CONCLUSION
The exercise programme had a beneficial effect on the severity of lumbopelvic pain in pregnancy, reducing the intensity of pain and the level of disability experienced as a result.
Topics: Adult; Exercise Therapy; Female; Humans; Low Back Pain; Lower Extremity; Pain Measurement; Pelvic Girdle Pain; Pelvis; Pregnancy; Pregnancy Complications; Severity of Illness Index; Surveys and Questionnaires; Treatment Outcome
PubMed: 28233012
DOI: 10.2340/16501977-2196 -
Annals of Indian Academy of Neurology 2017Limb-girdle muscular dystrophies (LGMDs) are common in India. Information on LGMDs has been gradually evolving in the recent years. This information is scattered in case... (Review)
Review
Limb-girdle muscular dystrophies (LGMDs) are common in India. Information on LGMDs has been gradually evolving in the recent years. This information is scattered in case series and case studies. The aim of this study is to collate available Indian information on LGMDs and put it in perspective. PubMed search using keywords such as limb-girdle muscular dystrophies in India, sarcoglycanopathies, dysferlinopathy, calpainopathy, and GNE myopathy was carried out. The published information on LGMDs in Indian context suggests that dysferlinopathy, calpainopathy, sarcoglycanopathies, and other myopathies such as GNE myopathy are frequently seen in India. Besides these, anecdotal reports of many other forms are available, some with genetic support and others showing immunocytochemical defects. The genotypic information on LGMDs is gradually evolving and founder mutations have been detected in selected populations. Further multicenter studies are necessary to document the incidence and prevalence of these common conditions in India.
PubMed: 28615891
DOI: 10.4103/aian.AIAN_81_17 -
Arquivos de Neuro-psiquiatria Sep 2014Limb girdle muscular dystrophies are heterogeneous autosomal hereditary neuromuscular disorders. They produce dystrophic changes on muscle biopsy and they are associated... (Review)
Review
Limb girdle muscular dystrophies are heterogeneous autosomal hereditary neuromuscular disorders. They produce dystrophic changes on muscle biopsy and they are associated with mutations in several genes involved in muscular structure and function. Detailed clinical, laboratorial, imaging, diagnostic flowchart, photographs, tables, and illustrated diagrams are presented for the differential diagnosis of common autosomal recessive limb girdle muscular dystrophy subtypes diagnosed nowadays at one reference center in Brazil. Preoperative image studies guide muscle biopsy site selection. Muscle involvement image pattern differs depending on the limb girdle muscular dystrophy subtype. Muscle involvement is conspicuous at the posterior thigh in calpainopathy and fukutin-related proteinopathy; anterior thigh in sarcoglycanopathy; whole thigh in dysferlinopathy, and telethoninopathy. The precise differential diagnosis of limb girdle muscular dystrophies is important for genetic counseling, prognostic orientation, cardiac and respiratory management. Besides that, it may probably, in the future, provide specific genetic therapies for each subtype.
Topics: Biopsy; Diagnosis, Differential; Female; Humans; Male; Medical Illustration; Muscles; Muscular Dystrophies, Limb-Girdle; Tomography, X-Ray Computed; Ultrasonography
PubMed: 25252238
DOI: 10.1590/0004-282x20140110 -
Genes Sep 2022Anoctaminopathy-5 refers to a group of hereditary skeletal muscle or bone disorders due to mutations in the anoctamin 5 (ANO5)-encoding gene, . ANO5 is a 913-amino acid... (Review)
Review
Anoctaminopathy-5 refers to a group of hereditary skeletal muscle or bone disorders due to mutations in the anoctamin 5 (ANO5)-encoding gene, . ANO5 is a 913-amino acid protein of the anoctamin family that functions predominantly in phospholipid scrambling and plays a key role in the sarcolemmal repairing process. Monoallelic mutations in give rise to an autosomal dominant skeletal dysplastic syndrome (gnathodiaphyseal dysplasia or GDD), while its biallelic mutations underlie a continuum of four autosomal recessive muscle phenotypes: (1). limb-girdle muscular dystrophy type R12 (LGMDR12); (2). Miyoshi distal myopathy type 3 (MMD3); (3). metabolic myopathy-like (pseudometabolic) phenotype; (4). asymptomatic hyperCKemia. ANO5 muscle disorders are rare, but their prevalence is relatively high in northern European populations because of the founder mutation c.191dupA. Weakness is generally asymmetric and begins in proximal muscles in LGMDR12 and in distal muscles in MMD3. Patients with the pseudometabolic or asymptomatic hyperCKemia phenotype have no weakness, but conversion to the LGMDR12 or MMD3 phenotype may occur as the disease progresses. There is no clear genotype-phenotype correlation. Muscle biopsy displays a broad spectrum of pathology, ranging from normal to severe dystrophic changes. Intramuscular interstitial amyloid deposits are observed in approximately half of the patients. Symptomatic and supportive strategies remain the mainstay of treatment. The recent development of animal models of ANO5 muscle diseases could help achieve a better understanding of their underlying pathomechanisms and provide an invaluable resource for therapeutic discovery.
Topics: Animals; Muscular Dystrophies, Limb-Girdle; Anoctamins; Muscular Diseases; Muscle, Skeletal; Phospholipids; Amino Acids
PubMed: 36292621
DOI: 10.3390/genes13101736