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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 ...
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Neurology
Neurology (from , "string, nerve" and the suffix wikt:-logia, -logia, "study of") is the branch of specialty (medicine) , medicine dealing with the diagnosis and treatment of all categories of conditions and disease involving the nervous system, which comprises the Human brain, brain, the spinal cord and the peripheral nervous system , peripheral nerves. Neurological practice relies heavily on the field of neuroscience, the scientific study of the nervous system, using various techniques of neurotherapy. IEEE Brain (2019). "Neurotherapy: Treating Disorders by Retraining the Brain". ''The Future Neural Therapeutics White Paper''. Retrieved 23.01.2025 from: https://brain.ieee.org/topics/neurotherapy-treating-disorders-by-retraining-the-brain/#:~:text=Neurotherapy%20trains%20a%20patient's%20brain,wave%20activity%20through%20positive%20reinforcement International Neuromodulation Society, Retrieved 23 January 2025 from: https://www.neuromodulation.com/ Val Danilov I (2023). "The O ...
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Physical Medicine And Rehabilitation
Physical medicine and rehabilitation (PM&R), also known as physiatry, and outside the United States as physical and rehabilitation medicine (PRM), is a branch of medicine that aims to enhance and restore functional ability and quality of life to people with physical impairments or disabilities. Officially established in the United States in the mid-1900s, PM&R has played a major role in patient recovery following several major epidemics and both world wars. Common medical conditions treated by PM&R physicians include spinal cord injury, brain injury, musculoskeletal injury, stroke, pain, and spasticity from muscle, ligament, or nerve damage. PM&R physicians lead rehabilitation teams in inpatient and outpatient settings and are trained in medication management, electrodiagnosis, and targeted injections. A physician having completed training in this field may be referred to as a physiatrist. Scope of the field Physical medicine and rehabilitation encompasses a variety o ...
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Neuromuscular Disease
A neuromuscular disease is any disease affecting the peripheral nervous system (PNS), the neuromuscular junctions, or skeletal muscles, 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 650 genes have shown to be causes of neuromuscular diseases. Other causes include nerve or muscle degeneration, autoimmunity, toxins, medications, malnutrition, metabolic derangements, hormone imbalances, infection, nerve compression/entrapment, comprised blood supply, and trauma. Signs and symptoms Symptoms of neuromuscular disease may include numbness, paresthesia, muscle atrophy, a pseudoathletic appearance, exercise intolerance, myalgia (muscle pain), fasciculations (muscle twitches), myotonia (delayed muscle relaxation), hypotonia (lack of resistance to passive movement), fixed muscle weakness (a static s ...
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Autoimmune Disease
An autoimmune disease is a condition that results from an anomalous response of the adaptive immune system, wherein it mistakenly targets and attacks healthy, functioning parts of the body as if they were foreign organisms. It is estimated that there are more than 80 recognized autoimmune diseases, with recent scientific evidence suggesting the existence of potentially more than 100 distinct conditions. Nearly any body part can be involved. Autoimmune diseases are a separate class from autoinflammatory diseases. Both are characterized by an immune system malfunction which may cause similar symptoms, such as rash, swelling, or fatigue, but the cardinal cause or mechanism of the diseases is different. A key difference is a malfunction of the innate immune system in autoinflammatory diseases, whereas in autoimmune diseases there is a malfunction of the adaptive immune system. Symptoms of autoimmune diseases can significantly vary, primarily based on the specific type of the d ...
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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. Needle EMG is an electrodiagnostic medicine technique commonly used by neurologists. Surface EMG is a non-medical procedure used to assess muscle activation by several professionals, including physiotherapists, kinesiologists and biomedical engineers. In computer science, EMG is also used as middleware in gesture recognition towards allowing the input of physical action to a computer as a form of human-computer interaction. Clinical uses EMG testing has a varie ...
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Nerve Conduction Study
A nerve conduction study (NCS) is a medical test, medical diagnostic test commonly used to evaluate the function, especially the ability of action potential, electrical conduction, of the motor nerve, motor and sensory nerves of the human body. These tests may be performed by Specialty (medicine), medical specialists such as clinical neurophysiology, clinical neurophysiologists, physical therapy, physical therapists, physiatry, physiatrists (physical medicine and rehabilitation physicians), and neurology, neurologists who subspecialize in electrodiagnostic medicine. In the United States, neurologists and physiatrists receive training in electrodiagnostic medicine (performing needle electromyography (EMG and NCSs) as part of residency training and, in some cases, acquire additional expertise during a fellowship in clinical neurophysiology, electrodiagnostic medicine, or neuromuscular medicine. Outside the US, clinical neurophysiologists learn needle EMG and NCS testing. Purpose and ...
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Neurotransmitter
A neurotransmitter is a signaling molecule secreted by a neuron to affect another cell across a Chemical synapse, synapse. The cell receiving the signal, or target cell, may be another neuron, but could also be a gland or muscle cell. Neurotransmitters are released from synaptic vesicles into the synaptic cleft where they are able to interact with neurotransmitter receptors on the target cell. Some neurotransmitters are also stored in large dense core vesicles. The neurotransmitter's effect on the target cell is determined by the receptor it binds to. Many neurotransmitters are synthesized from simple and plentiful precursors such as amino acids, which are readily available and often require a small number of biosynthetic steps for conversion. Neurotransmitters are essential to the function of complex neural systems. The exact number of unique neurotransmitters in humans is unknown, but more than 100 have been identified. Common neurotransmitters include Glutamate (neurotransmi ...
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Neuromuscular Junction
A neuromuscular junction (or myoneural junction) is a chemical synapse between a motor neuron and a muscle fiber. It allows the motor neuron to transmit a signal to the muscle fiber, causing muscle contraction. Muscles require innervation to function—and even just to maintain muscle tone, avoiding atrophy. In the neuromuscular system, nerves from the central nervous system and the peripheral nervous system are linked and work together with muscles. Synaptic transmission at the neuromuscular junction begins when an action potential reaches the presynaptic terminal of a motor neuron, which activates voltage-gated calcium channels to allow calcium ions to enter the neuron. Calcium ions bind to sensor proteins (synaptotagmins) on synaptic vesicles, triggering vesicle fusion with the cell membrane and subsequent neurotransmitter release from the motor neuron into the synaptic cleft. In vertebrates, motor neurons release acetylcholine (ACh), a small molecule neurotransmitter, which ...
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Spinal Muscular Atrophy
Spinal muscular atrophy (SMA) is a rare neuromuscular disorder that results in the loss of motor neurons and progressive muscle wasting. It is usually diagnosed in infancy or early childhood and if left untreated it is the most common genetic cause of infant death. It may also appear later in life and then have a milder course of the disease. The common feature is the progressive weakness of voluntary muscles, with the arm, leg, and respiratory muscles being affected first. Associated problems may include poor head control, difficulties swallowing, scoliosis, and joint contractures. The age of onset and the severity of symptoms form the basis of the traditional classification of spinal muscular atrophy into a number of types. Spinal muscular atrophy is due to an abnormality (mutation) in the ''SMN1'' gene which encodes SMN, a protein necessary for the survival of motor neurons. Loss of these neurons in the spinal cord prevents signalling between the brain and skeletal mus ...
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Duchenne Muscular Dystrophy
Duchenne muscular dystrophy (DMD) is a severe type of muscular dystrophy predominantly affecting boys. The onset of muscle weakness typically begins around age four, with rapid progression. Initially, muscle loss occurs in the thighs and pelvis, extending to the arms, which can lead to difficulties in standing up. By the age of 12, most individuals with Duchenne muscular dystrophy are unable to walk. Affected muscles may appear larger due to an increase in fat content, and scoliosis is common. Some individuals may experience intellectual disability, and females carrying a single copy of the mutated gene may show mild symptoms. Duchenne muscular dystrophy is caused by mutations or deletions in any of the 79 exons encoding the large dystrophin protein, which is essential for maintaining the muscle fibers' cell membrane integrity. The disorder follows an X-linked recessive inheritance pattern, with approximately two-thirds of cases inherited from the mother and one-third res ...
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List Of Neuromuscular Disorders
A list is a set of discrete items of information collected and set forth in some format for utility, entertainment, or other purposes. A list may be memorialized in any number of ways, including existing only in the mind of the list-maker, but lists are frequently written down on paper, or maintained electronically. Lists are "most frequently a tool", and "one does not ''read'' but only ''uses'' a list: one looks up the relevant information in it, but usually does not need to deal with it as a whole".Lucie Doležalová,The Potential and Limitations of Studying Lists, in Lucie Doležalová, ed., ''The Charm of a List: From the Sumerians to Computerised Data Processing'' (2009). Purpose It has been observed that, with a few exceptions, "the scholarship on lists remains fragmented". David Wallechinsky, a co-author of ''The Book of Lists'', described the attraction of lists as being "because we live in an era of overstimulation, especially in terms of information, and lists help us ...
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Muscle
Muscle is a soft tissue, one of the four basic types of animal tissue. There are three types of muscle tissue in vertebrates: skeletal muscle, cardiac muscle, and smooth muscle. Muscle tissue gives skeletal muscles the ability to muscle contraction, contract. Muscle tissue contains special Muscle contraction, contractile proteins called actin and myosin which interact to cause movement. Among many other muscle proteins, present are two regulatory proteins, troponin and tropomyosin. Muscle is formed during embryonic development, in a process known as myogenesis. Skeletal muscle tissue is striated consisting of elongated, multinucleate muscle cells called muscle fibers, and is responsible for movements of the body. Other tissues in skeletal muscle include tendons and perimysium. Smooth and cardiac muscle contract involuntarily, without conscious intervention. These muscle types may be activated both through the interaction of the central nervous system as well as by innervation ...
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