Neuromuscular joint diseases

Temporomandibular disorders are multi-factorial conditions affected by psychological, biomechanical, and neuromuscular factors. Stress and anxiety experienced during the pandemic are capable of influencing and aggravating temporomandibular disorders and orofacial pain. The study aimed to analyze whether the coronavirus infection can directly affect these diseases. All participants were asked to complete the Pain Screener and Patients Health Questionnaire and were assigned to Group I: healthy participants and Group 2: participants with existing complaints...

BACKGROUND: The large number of articulating joints within the spinal column provides an abundance of options to control its movement. However, the ability of individuals to consciously manipulate these movement options is poorly understood. OBJECTIVES: To determine if short-term training can improve the ability to consciously dissociate motion between the pelvis and thorax during repetitive pelvic tilting movements. DESIGN: Cross-over design with young healthy individuals...

BACKGROUND: Cervical sagittal alignment is crucial for distributing the head load to lower cervical segments and maintaining normal cervical spine function, but its biomechanical effect on the cervical spine was not fully elucidated. OBJECTIVE: To investigate the effect of cervical sagittal alignment on dynamic intervertebral kinematics. DESIGN: Cross-sectional study. METHODS: Healthy participants without neck pain were recruited and divided into lordosis, straight and kyphosis groups according to the C2-C7 Cobb angle at the neutral position...

BACKGROUND: In patients with diabetic polyneuropathy (DPN), differences in postural control due to losing the lower limb somatosensory information were reported. However, it is still unclear by which mechanisms the dynamic postural instability is caused. OBJECTIVES: This study aimed to investigate postural control differences and neuromuscular adaptations resulting from foot somatosensory loss due to DPN. METHODS: In this controlled cross-sectional study, fourteen DPN patients and fourteen healthy controls performed the Functional Reach Test (FRT) as a dynamic task...

PURPOSE: Literature regarding total hip arthroplasty for pediatric hip diseases is scarce. This review aims to portray the various orthopedic conditions of childhood that can lead to significant impairment of the hip joint and, ultimately, to total hip arthroplasty in adolescence and adulthood. METHODS: In total, 61 out of 3666 articles were selected according to (1) the diagnosis of one of the 12 pediatric hip pathologies (Legg-Perthes-Calvé disease, developmental dysplasia of the hip, slipped capital femoral epiphysis, neuromuscular hip dysplasia, post-traumatic avascular necrosis of the proximal femur, juvenile rheumatoid arthritis, achondroplasia, spondyloepiphyseal dysplasia, mucopolysaccharidosis, mucolipidosis, hip infections, and tumors) that required total hip arthroplasty; (2) minimum follow-up of 16 months; (3) assessed outcome with a clinical or radiologic score; (4) Methodological Items for Non-Randomized Studies quality score of 9 or higher...

Piriformis syndrome is a neuromuscular disorder characterized by hip, buttock, and leg pain. Axial spondyloarthritis is a rheumatic disease primarily affecting the sacroiliac joint and the spine. Due to their anatomical proximity, the potential relationship between piriformis syndrome and sacroiliitis has been discussed for some time. However, literature review revealed that there is no study on piriformis syndrome in individuals with axial spondyloarthritis. Here, we present the case of a 30-year-old female with axial spondyloarthritis who developed severe low back, hip, and buttock pain that persisted despite initial treatment for axial spondyloarthritis...

PYROXD1 -associated myopathy is a rare genetic form of limb-girdle muscular dystrophy (LGMD) with only 23 previous cases having been reported in the literature. The exact role of PYROXD1 in the pathophysiology of LGMD remains unclear. We describe two brothers who presented to the neuromuscular clinic with progressive weakness of their upper and lower limbs over the preceding decades. Our case highlights how recent advancements in genetic sequencing have revolutionised the diagnostic classification process for LGMD and provided opportunities to establish diagnoses for previously unclassified myopathies...

INTRODUCTION: In peripheral artery disease (PAD) patients, the joint profile of low strength and cardiorespiratory fitness on movement behaviors, specifically physical activity levels and sedentary time, remains unclear. PURPOSE: To investigate the joint profiles between cardiorespiratory and neuromuscular fitness and daily physical activity among PAD patients. METHODS: Cross-sectional study in a sample of 155 PAD patients. We measured their physical activity level per week using accelerometers, assessed their muscle strength through a sit-to-stand test and cardiorespiratory fitness through a six-minute walk test...

BACKGROUND: Myasthenia gravis is a rare chronic autoimmune neuromuscular disorder mainly caused by autoantibodies to the nicotinic acetylcholine receptor. Cholesterol is an essential molecule that affects the distribution and proper functioning of this receptor. Several reports have described the potential worsening of myasthenia gravis in patients treated with statins. CASE PRESENTATION: The patient was an obese 72 years old man, past smoker, diagnosed with ischaemic heart disease, type 2 diabetes mellitus and lipid metabolism disorder...

Congenital myasthenic syndrome-25 (CMS-25) is an autosomal recessive neuromuscular disorder caused by a homozygous mutation in VAMP1 gene. To date, only eight types of allelic variants in VAMP1 gene have been reported in 12 cases of CMS-25. Here, we report on an 8-year-old boy with motor developmental delay, axial hypotonia, myopathic face, muscle weakness, strabismus, ptosis, pectus carinatum, kyphoscoliosis, joint contractures, joint laxity, seizures, and recurrent nephrolithiasis. He also had feeding difficulties and recurrent aspiration pneumonia...

As persistent elevation of transforming growth factor-β (TGF-β) promotes fibrosis of muscles and joints and accelerates disease progression in amyotrophic lateral sclerosis (ALS), we investigated whether inhibition of TGF-β would be effective against both exacerbations. The effects of TGF-β and its inhibitor on myoblasts and fibroblasts were tested in vitro and confirmed in vivo, and the dual action of a TGF-β inhibitor in ameliorating the pathogenic role of TGF-β in ALS mice was identified...

Bradykinesia, or slow movement, is a defining symptom of Parkinson's disease (PD), but the underlying neuromechanical deficits that lead to this slowness remain unclear. People with PD often have impaired rates of motor output accompanied by disruptions in neuromuscular excitation, causing abnormal, segmented, force-time curves. Previous investigations using single-joint models indicate that agonist electromyogram (EMG) silent periods cause motor segmentation. It is unknown whether motor segmentation is evident in more anatomically complex and ecologically important tasks, such as handgrip tasks...

Patients with Parkinson's disease (PD) exhibit both a severe neuromuscular disorder and low bone quality at presentation. These issues are made worse by inactivity and a chairbound state. Each and every pathologic and degenerative process that affects the naturally aging spine also affects these individuals. Stooped posture is a symptom of a disease and can easily cause spinal degeneration. PD is associated with many physical abnormalities that cause a unique and specific need for rehabilitation. Patients' experiences highlight the challenges doctors face in diagnosis, treatment, and rehabilitation...


The advent of surgical reconstruction techniques has enabled the recreation of myoelectric controls sites that were previously lost due to amputation. This advancement is particularly beneficial for individuals with higher-level arm amputations, who were previously constrained to using a single degree of freedom (DoF) myoelectric prostheses due to the limited number of available muscles from which control signals could be extracted. In this study, we explore the use of surgically created electro-neuromuscular constructs to intuitively control multiple bionic joints during daily life with a participant who was implanted with a neuromusculoskeletal prosthetic interface...

BACKGROUND: Approximately 30% of post-operative breast cancer patients develop shoulder joint movement disorders affecting routine upper limb movement. This study discusses the impact of a neuromuscular joint facilitation (NJF) method on the physical function of breast cancer patients experiencing shoulder dysfunction during chemotherapy after radical surgery. METHODS: This study included 162 female patients who have unilateral breast cancer in a cancer hospital in China...

Knee osteoarthritis (OA) is a degenerative joint disease caused tearing and progressive wear of articular cartilage, and total knee arthroplasty (TKA) is recommended to patients with OA. The purpose of this study was to investigate the effect of proprioceptive neuromuscular facilitation (PNF) and both sides up ball (BOSU) exercises on pain, range of motion (ROM), and muscle function in patients following TKA. Ten participants who have limitation of the knee joint from TKA were divided into two groups: the continuous passive motion (CPM)+PNF exercise group (n=5) and the CPM+BOUS exercise group (n=5)...

BACKGROUND: Evidence supporting type and dosage of joint mobilizations and rationale for selecting joint mobilization dosage for patients with rotator cuff-related shoulder pain are limited. OBJECTIVES: This scoping review aimed to systematically map the type and dosage of joint mobilizations used in previous trials for managing patients with rotator cuff-related shoulder pain; and summarize the rationale for adopting a specific joint mobilization dosage. METHODS: We searched six databases...

Hypophosphatasia (HPP), also called Rathbun disease, is a rare genetic disorder that is caused by the loss-of-function mutation in the ALPL gene encoding tissue non-specific alkaline phosphatase. Doctor Rathbun first described the case of a 3-week-old infant who presented with severe osteopenia, rickets, and multiple radiographic fractures, and died shortly after of epileptic seizure and respiratory distress. The term "hypophosphatasia" was coined as the patients' alkaline phosphatase levels were significantly low...

The cable-driven exoskeleton can avoid joint misalignment, and is substantial alterations in the pattern of muscle synergy coordination, which arouse more attention in recent years to facilitate exercise for older adults and improve their overall quality of life. This study leverages principles from neuroscience and biomechanical analysis to select attachment points for cable-driven soft exoskeletons. By extracting key features of human movement, the objective is to develop a subject-specific design methodology that provides precise and personalized support in the attachment points optimization of cable-driven exoskeleton to achieve natural gait, energy efficiency, and muscle coordination controllable in the domain of human mobility and rehabilitation...

The European Joint Programme on Rare Diseases (EJPRD) funded the workshop "LAMA2-Muscular Dystrophy: Paving the road to therapy", bringing together 40 health-care professionals, researchers, patient-advocacy groups, Early-Career Scientists and other stakeholders from 14 countries. Progress in natural history, pathophysiology, trial readiness, and treatment strategies was discussed together with efforts to increase patient-awareness and strengthen collaborations. Key outcomes were (a) ongoing natural history studies in 7 countries already covered more than 350 patients...