Neuromuscular joint diseases

Limb-girdle muscular dystrophy (LGMD) is a collection of neuromuscular diseases that develop gradually and are rare, genetically, and clinically diverse. The weakness in muscles affecting the shoulder and pelvic girdles is a defining feature of LGMD. Calpainopathy is another name for limb-girdle muscular dystrophy type 2A (LGMD2A). Limb-girdle muscular dystrophy type 2A results from alterations in the calpain-3 (CAPN3) gene, which results in a CAPN3 protein shortage. Gower's sign is most commonly found in LGMD2A...

BACKGROUND: Emerging evidence suggests that extracellular vesicles (EVs) can play roles in inflammatory processes and joint degradation in primary osteoarthritis (OA), a common age-associated joint disease. EV subpopulations express tetraspanins and platelet markers that may reflect OA pathogenesis. The present study investigated the associations between these EV surface markers and articular cartilage degradation, subjectively and objectively assessed pain, and functional limitations in primary knee OA (KOA)...

BACKGROUND: Poliomyelitis is a global disabling disease affecting 12-20 million of people. Post poliomyelitis syndrome (PPS) may affect up to 80% of polio survivors: increased muscle weakness, pain, fatigue, functional decline. It relies on aging of an impaired neuro-muscular system with ongoing denervation processes. A late involvement of humoral or cellular pro-inflammatory phenomena is also suspected. AIM: To assess the dysimmune hypothesis of PPS by comparing lymphocyte subpopulations and humoral immune factors between PPS patients and controls...

BACKGROUND: Rowing-related low back disorders may occur from inconsistent technique, high trunk flexion and training volumes, overactivation of paraspinal muscles, and fatigue. OBJECTIVE: To examine if kinesiology tape (KT) affixed to the trunk dorsum affects muscular co-activation and neuromuscular control to limit dangerous rowing movements and associated injuries. METHODS: Participants (n= 18) completed two 2000 m rowing trials under BASELINE and KT conditions...

BACKGROUND: The cervical vertebrae and the temporomandibular joint (TMJ) may be linked through their common muscles. OBJECTIVES: The aim of the present study was to compare the linear intra-articular motions of the TMJ between individuals with the normal craniocervical posture (CCP) and severe forward head posture (FHP). DESIGN: Cross-sectional study. METHODS: Volunteers (N = 38) were equally assigned to either the severe FHP group or the normal CCP group according to their craniovertebral angle (CVA)...

BACKGROUND: Endurance capability in the muscles controlling the knee is poorly understood post anterior cruciate ligament (ACL) reconstruction, despite many sporting activities requiring notable muscle endurance. The hamstring muscles, when active, provide important anatomical support to protect the reconstructed graft. In the absence of good hamstring endurance, fatigue may predispose individuals to re-injury. OBJECTIVE: To assess whether ACL reconstruction (ACLR) with a hamstring graft leads to reduced hamstring endurance 9-13 months post-surgery...

Patients with myopathies caused by pathogenic variants in tropomyosin genes TPM2 and TPM3 usually have muscle hypotonia and weakness, their muscle biopsies often showing fibre size disproportion and nemaline bodies. Here, we describe a series of patients with hypercontractile molecular phenotypes, high muscle tone, and mostly non-specific myopathic biopsy findings without nemaline bodies. Three of the patients had trismus, whilst in one patient, the distal joints of her fingers flexed on extension of the wrists...

BACKGROUND: Neurodynamic approach employs neural mobilization and mechanical nerve interface techniques. While published studies investigated the efficacy of neural mobilization, it is currently unknown whether manual treatment of the nerve mechanical interface is effective in the treatment of people with entrapment neuropathies. OBJECTIVES: Assess the effectiveness of mechanical interface treatment, including joint and soft tissue techniques, on pain and function in people with peripheral entrapment neuropathies...

BACKGROUND: Ultrasonography (US) is a widely used diagnostic tool in physical therapy. One of the US variables often utilized to quantify the dimensions of the subacromial space and its association with shoulder pathology is the coracohumeral distance (CHD), however, this measurement presents diverse evidence in terms of reliability. OBJECTIVES: To assess the intra- and inter-rater reliability of both expert and non-expert raters when measuring CHD through US in asymptomatic subjects...

BACKGROUND: There remain arguments regarding whether fatty degeneration of the rotator cuff muscles improves following rotator cuff repair. The purpose of this study was to prospectively investigate changes in fatty degeneration of the rotator cuff muscles, quantitatively measured on magnetic resonance imaging (MRI) with use of transverse relaxation time (T2) mapping techniques, and to assess the relationship between these changes and clinical outcomes. METHODS: Patients were included if they were scheduled for arthroscopic rotator cuff repair using the suture-bridge technique between June 2014 and December 2015, underwent preoperative MRI including the T2 mapping sequence, and consented to participate in the study...

Schwartz-Jampel Syndrome (SJS) type-1 (OMIM; #255800), a rare cause of skeletal dysplasia, is characterized by myotonic myopathy, chondrodystrophy, short stature, facial and eye abnormalities. SJS Type-1 develops due to variations in the HSPG2 gene which produces the "perlecan" molecule, one of the main proteoglycans of the basement membrane. A 6-year-old girl presented with short stature, a mask face, shrunken lips, narrow palpebral opening due to blepharospasm, stiffness of facial muscles, micrognathia, overlapping teeth, a short neck, and a bell-shaped thorax due to myotonic myopathy...

BACKGROUND: Individuals with wrist osteoarthritis (OA) can suffer from pain, muscular weakness, and impaired motion of the wrist, which can reduce the quality of life. While there is strong evidence that all patients with OA should receive first-line treatment with education and exercises, this approach has not yet been proposed for individuals with wrist OA. Therefore, this trial aimed to evaluate the effectiveness of a first line neuromuscular joint-protective exercise therapy program compared to a training program with range of motion (ROM) exercises in patients with wrist OA...

BACKGROUND: Proprioception is an important component of normal jaw function, although to date it is unknown if and how proprioception is affected in those with intra-articular temporomandibular disorders (IA-TMDs). This challenges effective management of this subgroup. OBJECTIVES: Determine whether differences in local joint position sense and force sense exist between individuals with IA-TMD and those without a jaw problem. DESIGN: Cross-sectional study...

OBJECTIVE: Protein-energy malnutrition and the subsequent muscle wasting (sarcopenia) are common ageing complications. It is knowing to be also associated with dementia. Our programme will test the cytoprotective functions of vitamin E combined with the cortisol-lowering effect of chocolate polyphenols (PP), in combination with muscle anabolic effect of adequate dietary protein intake and physical exercise to prevent the age-dependent decline of muscle mass and its key underpinning mechanisms including mitochondrial function, and nutrient metabolism in muscle in the elderly...

BACKGROUND: There is currently no objective and accurate clinical assessment of reticular neuromuscular control in healthy subjects or patients with upper motor neuron injury. As a result, clinical dysfunctions of neuromuscular control could just be semi-quantified, efficacies and mechanisms of various therapies for neuromuscular control improving are difficult to verify. METHODS: Fourteen healthy participants were required to maintain standing balance in the kinetostatics model of Gusu Constraint Standing Training (GCST)...

BACKGROUND: The upper limb neurodynamic test 1 is used in the diagnosis of median nerve neuropathies such as carpal tunnel syndrome but its diagnostic validity remains limited. Neurodynamic sequencing has been suggested to increase the specificity of the neurodynamic tests, however, to date, information on the diagnostic accuracy of this variation in neurodynamic testing is required. OBJECTIVES: The aim of this study was to analyze the diagnostic validity of the local sequence of ULNT1 (LS-ULNT1) (i...

BACKGROUND: Knee osteoarthritis is a complex condition with established risk factors such as female sex, increasing age and body mass index, reduced quadriceps muscle strength and knee injury. Despite known associated risks, the role and behaviour of knee tendons in knee osteoarthritis remains unclear. This study explores the association between quadriceps tendon elasticity, muscle strength, neuromuscular control, proprioception and patient reported outcome measures in individuals with knee osteoarthritis...

INTRODUCTION: Osteoarthritis (OA) is a common disease with high socioeconomical costs. In Denmark, standard rehabilitation (SR) consists of a combination of patient education and supervised physical exercise involving a standardized neuromuscular training program. As an evidence-based alternative, high-load (>70% 1RM) resistance training (HIRT) has shown positive rehabilitation effects in knee-OA but may not be tolerated in all patients (~25%) due to knee joint pain. However, low-load resistance training (20-40% 1RM) with concurrent partial blood-flow restriction (BFR) appears to produce effects similar to HIRT yet involving reduced joint pain during and after exercise...

BACKGROUND: Physiotherapists in the United Kingdom (UK), who have received additional training can adopt injection therapy for the treatment of musculoskeletal (MSK) disorders. OBJECTIVES: The objective of this practice survey was to explore (i) the frequency of use of injection therapy by UK physiotherapists for MSK disorders; and (ii) the clinical reasoning for selection of injectate, dose and pre/post injection practice. DESIGN: Cross-sectional online survey...

BACKGROUND: Pathogenic variants in TTN cause a spectrum of autosomal dominant and recessive cardiovascular, skeletal muscle and cardioskeletal disease with symptom onset across the lifespan. The aim of this study was to characterise the genotypes and phenotypes in a cohort of TTN +paediatric patients. METHODS: Retrospective chart review was performed at four academic medical centres. Patients with pathogenic or truncating variant(s) in TTN and paediatric-onset cardiovascular and/or neuromuscular disease were eligible...