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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 -
Genetics in Medicine : Official Journal... Sep 2020Several hundred genetic muscle diseases have been described, all of which are rare. Their clinical and genetic heterogeneity means that a genetic diagnosis is...
PURPOSE
Several hundred genetic muscle diseases have been described, all of which are rare. Their clinical and genetic heterogeneity means that a genetic diagnosis is challenging. We established an international consortium, MYO-SEQ, to aid the work-ups of muscle disease patients and to better understand disease etiology.
METHODS
Exome sequencing was applied to 1001 undiagnosed patients recruited from more than 40 neuromuscular disease referral centers; standardized phenotypic information was collected for each patient. Exomes were examined for variants in 429 genes associated with muscle conditions.
RESULTS
We identified suspected pathogenic variants in 52% of patients across 87 genes. We detected 401 novel variants, 116 of which were recurrent. Variants in CAPN3, DYSF, ANO5, DMD, RYR1, TTN, COL6A2, and SGCA collectively accounted for over half of the solved cases; while variants in newer disease genes, such as BVES and POGLUT1, were also found. The remaining well-characterized unsolved patients (48%) need further investigation.
CONCLUSION
Using our unique infrastructure, we developed a pathway to expedite muscle disease diagnoses. Our data suggest that exome sequencing should be used for pathogenic variant detection in patients with suspected genetic muscle diseases, focusing first on the most common disease genes described here, and subsequently in rarer and newly characterized disease genes.
Topics: Anoctamins; Exome; Glucosyltransferases; Humans; Muscular Dystrophies, Limb-Girdle; Exome Sequencing
PubMed: 32528171
DOI: 10.1038/s41436-020-0840-3 -
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 -
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 -
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 -
Human Genomics Jul 2018Limb girdle muscular dystrophies (LGMD) are a group of heterogeneous hereditary myopathies with similar clinical symptoms. Disease onset and progression are highly...
BACKGROUND
Limb girdle muscular dystrophies (LGMD) are a group of heterogeneous hereditary myopathies with similar clinical symptoms. Disease onset and progression are highly variable, with an elusive genetic background, and around 50% cases lacking molecular diagnosis.
METHODS
Whole exome sequencing (WES) was performed in 73 patients with clinically diagnosed LGMD. A filtering strategy aimed at identification of variants related to the disease included integrative analysis of WES data and human phenotype ontology (HPO) terms, analysis of genes expressed in muscle, analysis of the disease-associated interactome and copy number variants analysis.
RESULTS
Genetic diagnosis was possible in 68.5% of cases. On average, 36.3 rare variants in genes associated with various muscle diseases per patient were found that could relate to the clinical phenotype. The putative causative mutations were mostly in LGMD-associated genes, but also in genes not included in the current LGMD classification (DMD, COL6A2, and COL6A3). In three patients, mutations in two genes were suggested as the joint cause of the disease (CAPN3+MYH7, COL6A3+CACNA1S, DYSF+MYH7). Moreover, a variety of phenotype-influencing variants were postulated, including in patients with an identified already known primary pathogenic mutation.
CONCLUSIONS
We hypothesize that LGMD could be better described as oligogenic disorders in which dominant clinical presentation can result from the combined effect of mutations in a set of genes. In this view, the inter- and intrafamilial variability could reflect a specific genetic background and the presence of sets of phenotype-influencing or co-causative mutations in genes that either interact with the known LGMD-associated genes or are a part of the same pathways or structures.
Topics: Adolescent; Adult; Aged; Calcium Channels; Calcium Channels, L-Type; Calpain; Cardiac Myosins; Child; Child, Preschool; Collagen Type VI; Dysferlin; Exome; Female; Genetic Predisposition to Disease; Genetic Testing; Humans; Male; Middle Aged; Muscle Proteins; Muscular Dystrophies, Limb-Girdle; Mutation; Myosin Heavy Chains; Phenotype; Poland; Sequence Analysis, DNA; Exome Sequencing; Young Adult
PubMed: 29970176
DOI: 10.1186/s40246-018-0167-1 -
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 -
Journal of Clinical Medicine Jul 2023Limb-girdle muscular dystrophies (LGMDs) are caused by mutations in multiple genes. This review article presents 39 genes associated with LGMDs. Some forms are inherited... (Review)
Review
Limb-girdle muscular dystrophies (LGMDs) are caused by mutations in multiple genes. This review article presents 39 genes associated with LGMDs. Some forms are inherited in a dominant fashion, while for others this occurs recessively. The classification of LGMDs has evolved through time. Lately, to be considered an LGMD, the mutation has to cause a predominant proximal muscle weakness and must be found in two or more unrelated families. This article also presents therapies for LGMDs, examining both available treatments and those in development. For now, only symptomatic treatments are available for patients. The goal is now to solve the problem at the root of LGMDs instead of treating each symptom individually. In the last decade, multiple other potential treatments were developed and studied, such as stem-cell transplantation, exon skipping, gene delivery, RNAi, and gene editing.
PubMed: 37510884
DOI: 10.3390/jcm12144769