Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Myasthenia Gravis: Overview and Treatment01:20

Myasthenia Gravis: Overview and Treatment

1.6K
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...
1.6K
Disorders of the Skeletal Muscle01:28

Disorders of the Skeletal Muscle

1.0K
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...
1.0K
Myasthenia Gravis: Diagnostic Tests01:15

Myasthenia Gravis: Diagnostic Tests

1.1K
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...
1.1K
Satellite Stem Cells and Muscular Dystrophy01:21

Satellite Stem Cells and Muscular Dystrophy

2.0K
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...
2.0K
The Neuromuscular Junction01:19

The Neuromuscular Junction

9.9K
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...
9.9K
Neuromuscular Junction And Blockade01:29

Neuromuscular Junction And Blockade

3.2K
The site of chemical communication between a motor neuron and a muscle fiber is called the neuromuscular junction (NMJ). The end of the motor neuron at the NMJ divides into a cluster of synaptic end bulbs. The cytoplasm of these bulbs consists of synaptic vesicles enclosing acetylcholine molecules, the principal neurotransmitter released at the NMJ. The region opposite the synaptic bulb that ends in the muscle fiber is called the motor end plate, which has acetylcholine receptors. Within the...
3.2K

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Free Neuropathology: A bibliometric impact analysis.

Free neuropathology·2025
Same author

Establishment of normal myofiber size distribution in children and young adults.

Journal of neuropathology and experimental neurology·2025
Same author

Reduction of neuronal activity mediated by blood-vessel regression in the adult brain.

Nature communications·2025
Same author

Severe Adult-Onset Non-Dystrophic Myotonia With Apnea and Laryngospasm Due to Digenic Inheritance of <i>SCN4A</i> and <i>CLCN1</i> Variants: A Case Report.

Neurology. Genetics·2024
Same author

Effects of gene replacement therapy with resamirigene bilparvovec (AT132) on skeletal muscle pathology in X-linked myotubular myopathy: results from a substudy of the ASPIRO open-label clinical trial.

EBioMedicine·2023
Same author

Top ten discoveries of the year: Neuromuscular disease.

Free neuropathology·2023

Related Experiment Video

Updated: Jul 27, 2025

Systemic Delivery of MicroRNA Using Recombinant Adeno-associated Virus Serotype 9 to Treat Neuromuscular Diseases in Rodents
06:51

Systemic Delivery of MicroRNA Using Recombinant Adeno-associated Virus Serotype 9 to Treat Neuromuscular Diseases in Rodents

Published on: August 10, 2018

7.7K

Neuromuscular disease: 2023 update.

Marta Margeta1

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

Free Neuropathology
|June 7, 2023
PubMed
Summary

This review summarizes key 2022 advances in neuromuscular diseases, covering fundamental biology, new diseases, and diagnostic and therapeutic progress. It details specific conditions like COVID-19 complications and amyotrophic lateral sclerosis.

Keywords:
Amyotrophic lateral sclerosisChaperonopathyFacioscapulohumeral dystrophyGuillain-Barré syndromeInclusion body myositisLong COVIDMuscle regenerationMyotonic dystrophyNodes of RanvierTarget fiberWallerian degeneration

More Related Videos

Engineering and Characterization of an Optogenetic Model of the Human Neuromuscular Junction
11:07

Engineering and Characterization of an Optogenetic Model of the Human Neuromuscular Junction

Published on: April 14, 2022

2.4K
Direct Reprogramming of Human Fibroblasts into Myoblasts to Investigate Therapies for Neuromuscular Disorders
10:28

Direct Reprogramming of Human Fibroblasts into Myoblasts to Investigate Therapies for Neuromuscular Disorders

Published on: April 3, 2021

6.4K

Related Experiment Videos

Last Updated: Jul 27, 2025

Systemic Delivery of MicroRNA Using Recombinant Adeno-associated Virus Serotype 9 to Treat Neuromuscular Diseases in Rodents
06:51

Systemic Delivery of MicroRNA Using Recombinant Adeno-associated Virus Serotype 9 to Treat Neuromuscular Diseases in Rodents

Published on: August 10, 2018

7.7K
Engineering and Characterization of an Optogenetic Model of the Human Neuromuscular Junction
11:07

Engineering and Characterization of an Optogenetic Model of the Human Neuromuscular Junction

Published on: April 14, 2022

2.4K
Direct Reprogramming of Human Fibroblasts into Myoblasts to Investigate Therapies for Neuromuscular Disorders
10:28

Direct Reprogramming of Human Fibroblasts into Myoblasts to Investigate Therapies for Neuromuscular Disorders

Published on: April 3, 2021

6.4K

Area of Science:

  • Neurology
  • Muscle Biology
  • Genetics

Background:

  • Neuromuscular diseases encompass a range of debilitating conditions affecting nerve and muscle function.
  • Understanding disease mechanisms and developing effective treatments remain critical challenges in neurology.

Purpose of the Study:

  • To review significant advancements in the field of neuromuscular diseases reported in 2022.
  • To provide an overview of progress in fundamental biology, disease identification, etiology, diagnostics, and therapeutics.

Main Methods:

  • Literature review of key publications and research findings from 2022 in the neuromuscular disease field.
  • Synthesis of information across five overarching topics: fundamental biology, new diseases, etiology/pathogenesis, diagnostics, and therapeutics.

Main Results:

  • Highlights ten major advances, including insights into neuromuscular complications of COVID-19.
  • Discusses specific conditions such as DNAJB4-associated myopathy, NMNAT2-deficient hereditary axonal neuropathy, Guillain-Barré syndrome, sporadic inclusion body myositis, and amyotrophic lateral sclerosis.
  • Covers advances in muscle regeneration, genetic testing for muscular dystrophies, and SARM1 inhibitors for Wallerian degeneration.

Conclusions:

  • The year 2022 saw substantial progress across various facets of neuromuscular disease research.
  • These advances offer new avenues for understanding, diagnosing, and treating a spectrum of neuromuscular disorders.
  • Continued research is vital for translating these findings into clinical practice for improved patient outcomes.