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Related Concept Videos

Disorders of the Skeletal Muscle01:28

Disorders of the Skeletal Muscle

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The clinical conditions affecting the skeletal muscle tissue are broadly categorized as musculoskeletal and neuromuscular disorders.
Musculoskeletal disorders
Musculoskeletal disorders involve injuries and conditions affecting the skeletal muscles and associated connective tissues. These disorders can arise from acute biomechanical stresses or chronic overuse and can occur across different age groups. Common injuries include sprains, fractures, and muscular strains, often resulting from...
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Myasthenia Gravis: Overview and Treatment01:20

Myasthenia Gravis: Overview and Treatment

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Myasthenia gravis is a neuromuscular transmission disorder characterized by weakness and increased fatigability of skeletal muscles. It is an autoimmune disease affecting approximately one in 2000 people, where antibodies against the α1 subunit of nicotinic acetylcholine receptors are produced.
These antibodies interfere with the function of the nicotinic receptors in three ways: by binding to the receptor and disrupting acetylcholine binding; by causing cross-linking of receptors which...
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Parkinson's Disease: Overview01:15

Parkinson's Disease: Overview

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Neurodegenerative disorders are progressive diseases that cause irreversible damage and loss to neurons in specific brain areas. Examples of these disorders include Parkinson's disease, Alzheimer's disease, Multiple Sclerosis (MS), and Amyotrophic Lateral Sclerosis (ALS). These disorders share characteristics such as proteinopathies, selective neuronal vulnerability, and a complex interplay between genetic and environmental factors. The primary therapeutic goal for these conditions is...
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The Neuromuscular Junction01:19

The Neuromuscular Junction

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The nervous system consists of complex motor neuron circuits, including upper motor neurons originating from the cerebral cortex and lower motor neurons starting in the spinal cord, coordinating both voluntary and involuntary movements. Among these, somatic motor neurons activate skeletal muscles and are classified into alpha, beta, and gamma types. Alpha neurons are vital for voluntary movement coordination, while gamma neurons adjust muscle spindle sensitivity, and the function of beta...
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Myasthenia Gravis: Diagnostic Tests01:15

Myasthenia Gravis: Diagnostic Tests

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Myasthenia gravis is an autoimmune condition affecting neuromuscular transmission, causing generalized weakness in skeletal muscles. Initial diagnoses rely on patients' signs, symptoms, and medical history. The challenge lies in distinguishing myasthenia from other muscular dystrophies. An important diagnostic feature is the significant improvement of symptoms after administering anticholinesterase inhibitors.
The edrophonium test is a diagnostic tool for myasthenia gravis. It involves...
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Satellite Stem Cells and Muscular Dystrophy01:21

Satellite Stem Cells and Muscular Dystrophy

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Satellite stem cells or myosatellite cells are quiescent stem cells that Alexander Mauro first identified in 1961. These cells are located between the sarcolemma, the plasma membrane of muscle fibers, and the basal lamina, the connective tissue sheath covering it. These mononucleated cells are activated in response to muscle injury, can transform into myoblasts, and may form or repair muscle fibers. Myosatellite cells can provide additional myonuclei for muscle regeneration or return to a...
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Neuromuscular disease: 2021 update.

Marta Margeta1

  • 1Department of Pathology, University of California, San Francisco, CA, USA.

Free Neuropathology
|June 7, 2023
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Summary

This review summarizes key 2020 advances in neuromuscular diseases, covering biology, new conditions, pathogenesis, diagnostics, and therapeutics. It details progress in areas like COVID-19 complications and spinal muscular atrophy.

Keywords:
5q-SMAAmyloidosisCOVID-19CostameresGene therapyGuillain-Barré syndromeLarge-scale electron microscopyLobulated fibersPerilipin 4SMALEDSarcolemmal repairSarcomeresSatellite cell activationSupervillinTRIM72Vacuolar myopathyVasculitis

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Area of Science:

  • Neurology
  • Muscle Biology
  • Genetics

Background:

  • Neuromuscular diseases encompass a wide range of debilitating conditions affecting muscle and nerve function.
  • Understanding the underlying biology and pathogenesis is crucial for developing effective treatments.
  • Recent scientific discoveries continually expand our knowledge of these complex disorders.

Purpose of the Study:

  • To review significant advancements in the neuromuscular disease field reported in 2020.
  • To categorize these advances into fundamental biology, emerging diseases, etiology, diagnostics, and therapeutics.
  • To highlight specific conditions and research tools impacting the field.

Main Methods:

  • Literature review of scientific publications from 2020.
  • Synthesis of findings across diverse areas of neuromuscular research.
  • Categorization of advances based on overarching themes and specific disease entities.

Main Results:

  • Ten major advances in neuromuscular disease research from 2020 are presented.
  • Key areas include fundamental biology, new/emerging diseases, etiology, diagnostics, and therapeutics.
  • Specific conditions discussed include neuromuscular complications of COVID-19, supervillin-deficient myopathy, 19p13.3-linked distal myopathy, vasculitic neuropathy, spinal muscular atrophy, idiopathic inflammatory myopathies, and transthyretin neuropathy/myopathy.

Conclusions:

  • The year 2020 saw substantial progress in understanding and managing neuromuscular diseases.
  • Advances in basic science, such as myofibrillar architecture and muscle regeneration, are expected to drive future innovations.
  • New diagnostic and therapeutic strategies offer hope for improved patient outcomes.