Concept

Neuromuscular medicine

Neuromuscular medicine is a subspecialty of neurology and physiatry that focuses the diagnosis and management of neuromuscular diseases. The field encompasses issues related to both diagnosis and management of these conditions, including rehabilitation interventions to optimize the quality of life of individuals with these conditions. This field encompasses disorders that impact both adults and children and which can be inherited or acquired, typically from an autoimmune disease. A neurologist or physiatrist can diagnose these diseases through a clinical history, examination, and electromyography including nerve conduction studies. Many recent drug therapies have been developed to address the acquired neuromuscular diseases including but not limited to immune suppression and drugs that increase the neurotransmitters at the neuromuscular junction. Gene modifying therapies are also a recent treatment branch of neuromuscular medicine with advancements made in disorders such as spinal muscular atrophy and Duchenne muscular dystrophy.

Official source

https://en.wikipedia.org/wiki/Neuromuscular_medicine

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Rehabilitation Robotics: Spinal Cord Functions and Exoskeletons

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Pre- and postsynaptic upregulation of FasII synergistically underlies neuropathological and behavioral phenotypes in a Drosophila model of myotonic dystrophy

Myotonic dystrophy type 1 is a multisystemic disorder that has been extensively studied for decades, yet our understanding of its neuropathological aspect remains rudimentary. Building on an established Drosophila model, we study the neuropathological features of the disease by expressing untranslated expanded CUG repeats at the Drosophila larval neuromuscular junction. In this model, we show that both pre- and postsynaptic expressions of CUG repeats participate in inducing phenotypes in synaptic boutons, a

Springer Science and Business Media LLC2025

Dysfunctional motor synapse refinement in ALS

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder characterised by progressive motor impairment and motor neuron (MN) degeneration. However, the early cellular and molecular events underlying its pathogenesis are not fully understood. There is mounting evidence that points to synaptic loss as an early hallmark of ALS, but the mechanisms that trigger and sustain this process are still unclear. Given the near-universal presence of TDP-43 pathology in ALS, here we used genetically tract

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Continuous monitoring and quantification of multiple parameters of daily physical activity in ambulatory Duchenne muscular dystrophy patients

Kamiar Aminian, Anisoara Ionescu, Bijan Najafi

Multiple motor function and strength assessment tools exist for the evaluation of neuromuscular diseases, but most do not directly assess functional ability in the patients' daily physical activity in their home environment. In this study our aim was to assess: 1) the feasibility and accuracy of physical activity monitoring during two days in a home environment of five DMD patients using a non-commercialized monitor containing a 3D accelerometer and a gyroscope, 2) if a difference in the physical activity p

Elsevier2011

Related concepts (3)

Neuromuscular disease

A neuromuscular disease is any disease affecting the peripheral nervous system (PNS), the neuromuscular junction, or skeletal muscle, all of which are components of the motor unit. Damage to any of these structures can cause muscle atrophy and weakness. Issues with sensation can also occur. Neuromuscular diseases can be acquired or genetic. Mutations of more than 500 genes have shown to be causes of neuromuscular diseases.

Electromyography

Electromyography (EMG) is a technique for evaluating and recording the electrical activity produced by skeletal muscles. EMG is performed using an instrument called an electromyograph to produce a record called an electromyogram. An electromyograph detects the electric potential generated by muscle cells when these cells are electrically or neurologically activated. The signals can be analyzed to detect abnormalities, activation level, or recruitment order, or to analyze the biomechanics of human or animal movement.

Nerve conduction study

A nerve conduction study (NCS) is a medical diagnostic test commonly used to evaluate the function, especially the ability of electrical conduction, of the motor and sensory nerves of the human body. These tests may be performed by medical specialists such as clinical neurophysiologists, physical therapists, chiropractors, physiatrists (physical medicine and rehabilitation physicians), and neurologists who subspecialize in electrodiagnostic medicine.

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Official source

https://en.wikipedia.org/wiki/Neuromuscular_medicine

About this result

Related lectures (6)

Rehabilitation Robotics: Spinal Cord Functions and Exoskeletons

Explores spinal cord functions, muscle electrostimulation, clinical trials, and gait rehabilitation challenges.

Neuromuscular Junction

Covers the nervous system's control of muscle contraction through motor units at the neuromuscular junction.

Motor Neuron Diseases: Pathophysiology & Therapies

Explores the motor system, motor neuron diseases, control of movements, and spinal cord organization.

Related publications (3)

Pre- and postsynaptic upregulation of FasII synergistically underlies neuropathological and behavioral phenotypes in a Drosophila model of myotonic dystrophy

Springer Science and Business Media LLC2025

Dysfunctional motor synapse refinement in ALS

EPFL2025

Continuous monitoring and quantification of multiple parameters of daily physical activity in ambulatory Duchenne muscular dystrophy patients

Kamiar Aminian, Anisoara Ionescu, Bijan Najafi

Elsevier2011

Related people (4)

Kamiar Aminian

Kamiar Aminian received the M.S. degree in electrical engineering in 1982, the Ph.D degree in biomedical engineering in 1989 and the Postgraduate degree on technical computing in 1993 from Ecole Polytechnique Fédérale de Lausanne (EPFL). He was assistant professor (1994-1996) with Sharif University of Technology (Tehran). He joint EPFL in 1996 where he is currently Professor of medical instrumentation and the director of the Laboratory of Movement Analysis and Measurement in the Institute of Bioengineering of EPFL. His research interests include methodologies for human movement monitoring and analysis in real world conditions mainly based on wearable technologies and inertial sensors with emphasis on gait, physical activity and sport. His research aims to perform outcome evaluation in orthopaedics, to improve motor function and intervention programs in aging and patients with movement disorders and pain, and to identify metrics of performance in sport science. Kamiar Aminian is a member of the International Society of Posture and Gait Research, the Institute of Electrical and Electronics Engineers, the European Society of Movement Analysis in Adults and Children, the Prevention of fall Network Europe, the Intentional Society of Biomechanics and the President of the 3D analysis of the human movement group. He is author or co-author of more than 450 scientific papers published in reviewed journals and presented at international conferences and holds 10 patents related to medical devices. Full CV ORCID

Johan Auwerx

Johan Auwerx is Professor at the École Polytechnique Fédérale in Lausanne, Switzerland, where he occupies the Nestle Chair in Energy Metabolism. Dr. Auwerx has been using molecular physiology and systems genetics to understand metabolism in health, aging and disease. Much of his work focused on understanding how diet, exercise and hormones control metabolism through changing the expression of genes by altering the activity of transcription factors and their associated cofactors. His work was instrumental for the development of agonists of nuclear receptors - a particular class of transcription factors - into drugs, which now are used to treat high blood lipid levels, fatty liver, and type 2 diabetes. Dr. Auwerx was amongst the first to recognize that transcriptional cofactors, which fine-tune the activity of transcription factors, act as energy sensors/effectors that influence metabolic homeostasis. His research validated these cofactors as novel targets to treat metabolic diseases, and spurred the clinical use of natural compounds, such as resveratrol, as modulators of these cofactor pathways. Johan Auwerx was elected as a member of EMBO in 2003 and is the recipient of a dozen of international scientific prizes, including the Danone International Nutrition Award, the Oskar Minkowski Prize, and the Morgagni Gold Medal. His work is highly cited by his peers with a h-factor of over 100. He is an editorial board member of several journals, including Cell Metabolism, Molecular Systems Biology, The EMBO Journal, Journal of Cell Biology, Cell, and Science. Dr. Auwerx co-founded a handful of biotech companies, including Carex, PhytoDia, and most recently Mitobridge, and has served on several scientific advisory boards. Dr. Auwerx received both his MD and PhD in Molecular Endocrinology at the Katholieke Universiteit in Leuven, Belgium. He was a post-doctoral research fellow in the Departments of Medicine and Genetics of the University of Washington in Seattle.

Dominique Pioletti

Dominique Pioletti received his Master in Physics from the Swiss Federal Institute of Technology Lausanne (EPFL) in 1992. He pursued his education in the same Institution and obtained his PhD in biomechanics in 1997. He developed original constitutive laws taking into account viscoelasticity in large deformations. Then he spent two years at UCSD as post-doc fellow acquiring know-how in cell and molecular biology. He was interested in particular to gene expression of bone cells in contact to orthopedic implant. In April 2006, Dominique Pioletti was appointed Assistant Professor tenure-track at the EPFL and is director of the Laboratory of Biomechanical Orthopedics. His research topics include biomechanics and tissue engineering of musculo-skeletal tissues; mechano-transduction in bone; development of orthopedic implant as drug delivery system. Since 2013, he has been promoted to the rank of Associate Professor.

Alexandre Terrier

Expertise BiomechanicsJoint biomechanicsMecano-biologyOrthopaedic researchPatient-specific modellingContinuum mechanicsFinite Element AnalysisExperimental testingStatistical analyses Expertise BiomechanicsJoint biomechanicsMecano-biologyOrthopaedic researchPatient-specific modellingContinuum mechanicsFinite Element AnalysisExperimental testingStatistical analyses Mission Develop patient-specific models of human joints and their replacement, in parallel with a database of patients, in order to test statistic

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Neuromuscular disease

Electromyography

Nerve conduction study

Related people (4)