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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. Neuromuscular disease can be caused by autoimmune disorders, genetic or hereditary disorders such as channelopathies, or neurodegenerative diseases. Because they frequently have no cure, the focus is managing the condition to provide improvements in the patients quality. Rehabilitation robotics is a new frontier for neurological rehabilitation treatments. Diagnostic tools The tools used to diagnose neuromuscular disorders include nerve and muscle biopsies, electromyography, nerve conduction studies, and molecular and genetic tests. See also * List of neuromuscular disorder ...
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Neurology
Neurology (from el, νεῦρον (neûron), "string, nerve" and the suffix -logia, "study of") is the branch of medicine dealing with the diagnosis and treatment of all categories of conditions and disease involving the brain, the spinal cord and the peripheral nerves. Neurological practice relies heavily on the field of neuroscience, the scientific study of the nervous system. A neurologist is a physician specializing in neurology and trained to investigate, diagnose and treat neurological disorders. Neurologists treat a myriad of neurologic conditions, including stroke, seizures, movement disorders such as Parkinson's disease, autoimmune neurologic disorders such as multiple sclerosis, headache disorders like migraine and dementias such as Alzheimer's disease. Neurologists may also be involved in clinical research, clinical trials, and basic or translational research. While neurology is a nonsurgical specialty, its corresponding surgical specialty is neurosurger ...
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Muscle Biopsy
In medicine, a muscle biopsy is a procedure in which a piece of muscle tissue is removed from an organism and examined microscopically. A muscle biopsy can lead to the discovery of problems with the nervous system, connective tissue, vascular system, or musculoskeletal system. Indications In humans with weakness and low muscle tone, a muscle biopsy can help distinguish between myopathies (where the pathology is in the muscle tissue itself) and neuropathies (where the pathology is at the nerves innervating those muscles). Muscle biopsies can also help to distinguish among various types of myopathies, by microscopic analysis for differing characteristics when exposed to a variety of chemical reactions and stains. However, in some cases the muscle biopsy alone is inadequate to distinguish between certain myopathies. For example, a muscle biopsy showing the nucleus pathologically located in the center of the muscle cell would indicate "centronuclear myopathy", but research has show ...
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Motor Neuron Diseases
Motor neuron diseases or motor neurone diseases (MNDs) are a group of rare neurodegenerative disorders that selectively affect motor neurons, the cells which control voluntary muscles of the body. They include amyotrophic lateral sclerosis (ALS), progressive bulbar palsy (PBP), pseudobulbar palsy, progressive muscular atrophy (PMA), primary lateral sclerosis (PLS), spinal muscular atrophy (SMA) and monomelic amyotrophy (MMA), as well as some rarer variants resembling ALS. Motor neuron diseases affect both children and adults. While each motor neuron disease affects patients differently, they all cause movement-related symptoms, mainly muscle weakness. Most of these diseases seem to occur randomly without known causes, but some forms are inherited. Studies into these inherited forms have led to discoveries of various genes (e.g. ''SOD1'') that are thought to be important in understanding how the disease occurs. Symptoms of motor neuron diseases can be first seen at birth or ...
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Muscle
Skeletal muscles (commonly referred to as muscles) are organs of the vertebrate muscular system and typically are attached by tendons to bones of a skeleton. The muscle cells of skeletal muscles are much longer than in the other types of muscle tissue, and are often known as muscle fibers. The muscle tissue of a skeletal muscle is striated – having a striped appearance due to the arrangement of the sarcomeres. Skeletal muscles are voluntary muscles under the control of the somatic nervous system. The other types of muscle are cardiac muscle which is also striated and smooth muscle which is non-striated; both of these types of muscle tissue are classified as involuntary, or, under the control of the autonomic nervous system. A skeletal muscle contains multiple fascicles – bundles of muscle fibers. Each individual fiber, and each muscle is surrounded by a type of connective tissue layer of fascia. Muscle fibers are formed from the fusion of developmental myoblasts ...
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List Of Neuromuscular Disorders
Below is a partial list of neuromuscular disorders. Affecting muscle Muscular dystrophies Dystrophinopathies * Duchenne muscular dystrophy * Becker muscular dystrophy * DMD-associated dilated cardiomyopathy Limb girdle muscular dystrophies Limb girdle muscular dystrophies (LGMD) as defined by the European Neuromuscular Centre in 2018. They are named by the following system: LGMD, recessive or dominant inheritance (R or D), order of discovery (number), affected protein. * LGMD D1 DNAJB6-related * LGMD D2 TNP03-related * LGMD D3 HNRNPDL-related * LGMD D4 calpain3-related * LGMD D5 collagen 6-related * LGMD R1 calpain3-related ( Calpainopathy) * LGMD R2 dysferlin-related * LGMD R3 α-sarcoglycan-related * LGMD R4 β-sarcoglycan-related * LGMD R5 γ-sarcoglycan-related * LGMD R6 δ-sarcoglycan-related * LGMD R7 telethonin-related * LGMD R8 TRIM 32-related * LGMD R9 FKRP-related * LGMD R10 titin-related * LGMD R11 POMT1-related * LGMD R12 anoctamin5-related * LGMD R13 Fukutin- ...
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Genetic Testing
Genetic testing, also known as DNA testing, is used to identify changes in DNA sequence or chromosome structure. Genetic testing can also include measuring the results of genetic changes, such as RNA analysis as an output of gene expression, or through biochemical analysis to measure specific protein output. In a medical setting, genetic testing can be used to diagnose or rule out suspected genetic disorders, predict risks for specific conditions, or gain information that can be used to customize medical treatments based on an individual's genetic makeup. Genetic testing can also be used to determine biological relatives, such as a child's biological parentage (genetic mother and father) through DNA paternity testing, or be used to broadly predict an individual's ancestry. Genetic testing of plants and animals can be used for similar reasons as in humans (e.g. to assess relatedness/ancestry or predict/diagnose genetic disorders), to gain information used for selective breedin ...
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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. 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. Nerve conduction velocity (NCV) is a common measurement made during this test. The term NCV often is used to mean the actu ...
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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 variety ...
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Nerve Biopsy
In medicine, a nerve biopsy is an invasive procedure in which a piece of nerve is removed from an organism and examined under a microscope. A nerve biopsy can lead to the discovery of various necrotizing vasculitis, amyloidosis, sarcoidosis, leprosy, metabolic neuropathies, inflammation of the nerve, loss of axon tissue, and demyelination. Biopsy literally means an examination of tissue removed from a living body to discover the presence, cause, or extent of a disease. A nerve biopsy may be necessary when a patient experiences numbness, pain, or weakness in places such as the fingers or toes. A nerve biopsy can help to determine the cause of such symptoms. The procedure is usually only performed when all other options have failed in determining the cause of a disease. It is an outpatient procedure that is performed under local anesthetic. Uses A nerve biopsy can potentially find the cause of the numbness and/or pain experienced in the limbs. It can reveal if these symptoms are c ...
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Physical Medicine And Rehabilitation
Physical medicine and rehabilitation, also known as physiatry, is a branch of medicine that aims to enhance and restore functional ability and quality of life to people with physical impairments or disabilities. This can include conditions such as spinal cord injuries, brain injuries, strokes, as well as pain or disability due to muscle, ligament or nerve damage. 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 of clinical settings and patient populations. In hospital settings, physiatrists commonly treat patients who have had an amputation, spinal cord injury, stroke, traumatic brain injury, and other debilitating injuries or conditions. In treating these patients, physiatrists lead an interdisciplinary team of physical, occupational, recreational and speech therapists, nurses, psychologists, and social workers. In outpatient settings, physiatrists tr ...
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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. 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 weakness, muscle atrophy, myalgia (muscle pain), and fasciculations (muscle twitches). Causes Neuromuscular disease can be caused by autoimmune disorders, genetic/hereditary disorders and some forms of the collagen disorder Ehlers–Danlo ...
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Rehabilitation Robotics
Rehabilitation robotics is a field of research dedicated to understanding and augmenting rehabilitation through the application of robotic devices. Rehabilitation robotics includes development of robotic devices tailored for assisting different sensorimotor functions(e.g. arm, hand, leg, ankle), development of different schemes of assisting therapeutic training, and assessment of sensorimotor performance (ability to move) of patient; here, robots are used mainly as therapy aids instead of assistive devices. Rehabilitation using robotics is generally well tolerated by patients, and has been found to be an effective adjunct to therapy in individuals with motor impairments, especially due to stroke. Overview Rehabilitation robotics can be considered a specific focus of biomedical engineering, and a part of human-robot interaction. In this field, clinicians, therapists, and engineers collaborate to help rehabilitate patients. Prominent goals in the field include: developing implemen ...
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