Disorders of the Neuromuscular Junctions

Disorders of the Neuromuscular Junctions

by Roy Strowd, MD

The neuromuscular junction (NMJ) is a specialized synapse between a neuron and the muscle it innervates. It allows efferent signals from the nervous system to contract muscle fibers. This contraction is often regulated by acetylcholine, a neurotransmitter, via calcium-dependent mechanisms.

Disorders of the NMJ result from the dysregulation of the pathway of neuromuscular transmission, usually because of an alteration of one or more key proteins. The most common pathology is antibody-mediated damage or downregulation of ion channels or receptors, which can lead to diseases such as acquired neuromyotonia (Isaacs syndrome), Lambert-Eaton myasthenic syndrome (LEMS), and—probably most well-known—myasthenia gravis (MG). These three conditions have many commonalities.

Other important groups of disorders include exogenous toxins (organophosphates, botulinum toxin) and the subset of congenital myasthenic syndromes, a result of NMJ protein mutations.

It is important to recognize the classic clinical findings in these disorders so as not to miss them in clinical practice. It is important also to understand the clinical associations with these syndromes (e.g., MG with thymoma or LEMS with small-cell lung cancers). Finally, there are various diagnostic modalities used to test for these disorders (e.g., antibody testing and repetitive stimulation testing), and management often involves pharmacologically counteracting the pathologic dysfunction at the motor end plate.

Course Details

  • Videos 21
  • Duration 1:19 h
  • Quiz questions 43
  • Concept Pages 8


Your Educators of course Disorders of the Neuromuscular Junctions

 Roy Strowd, MD

Roy Strowd, MD

Dr. Roy Strowd is the Assistant Dean of Undergraduate Medical Education at the Wake Forest Baptist Medical Center, in North Carolina, USA.
He obtained his MD from Wake Forest School of Medicine in 2009, and his MEd from Johns Hopkins University in 2021. Currently, he co-directs the Neurofibromatosis and Tuberous Sclerosis Clinics at Wake Forest Baptist Medical Center, and is a researcher for the Adult Brain Tumor Consortium (ABTC) and Alliance for Clinical Trials in Neuro-Oncology.
Due to his achievements, he earned the M. Brownell Anderson Award from the Association of American Medical Colleges.
Within Lecturio, Dr. Strowd teaches courses on Clinical Neurology.

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By Paloma V. on 09. September 2022 for Myasthenia Gravis: Clinical and Serological Tests – Diagnosis

Muy completa. Buen repaso sobre la Miastenia (presentación clínica, test..)

Really interesting approach to neuromuscular diseases
By Quang Linh V. on 12. July 2022 for Disorders of the Neuromuscular Junctions

I really appreciate for Roy Strowd’s lecture. He stressed always on approach to a neuromuscular presentation. So it’s clear to take steps to investigate where is the problem. Is it neurological or muscular or neuromuscular junctions causes and so on.

By Kimberli B. on 12. April 2022 for Lambert Eaton Myasthenic Syndrome (LEMS): Overview

This is a very clear and helpful review of LEMS

Awesome explanations
By maryit b. on 24. January 2022 for Disorders of the Neuromuscular Junctions

Awesome explanations and powerful visual aids. Clear language and excellent communication