Neuromuscular Disorders

Neuromuscular disorders are conditions that impair movement by affecting motor neurons, peripheral nerves, neuromuscular junctions, or skeletal muscles. They arise when nerve signals fail to reach muscle fibers, transmission across the neuromuscular junction is disrupted, or muscle cells cannot generate and sustain contraction, often because of genetic, autoimmune, or degenerative changes. Studying these disorders in biology reveals how neural communication and muscle physiology support coordinated movement. Research uses clinical assessments, molecular analyses, imaging, and cellular models to identify disease mechanisms, improve diagnosis, evaluate treatments, and guide the development of therapies that preserve strength and function.

Neuromuscular Disorders - Related Videos

Research

JoVE Journal - Neuroscience

Measuring Neuromuscular Junction Functionality

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Cited by 7 •

2017

A functional assessment of the neuromuscular junction (NMJ) can provide essential information on the communication between muscle and nerve. Here we describe a protocol to comprehensively evaluate both the NMJ and muscle functionality using two different muscle-nerve preparations, i.e. soleus-sciatic and diaphragm-phrenic.

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

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Cited by 3 •

2021

This protocol describes the conversion of skin fibroblasts into myoblasts and their differentiation into myotubes. The cell lines are derived from patients with neuromuscular disorders and can be used to investigate pathological mechanisms and to test therapeutic strategies.

Assessing Muscle Contraction with Neuromuscular Blocker Treatment

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2025

This video demonstrates assessing the muscle using cultured motor neurons, Schwann cells, and myotubes, followed by treatment with a neuromuscular blocker to inhibit contraction. Color-coded time-motion graphics show a color-coded time-motion graphic. Red indicates the fastest movement, and blue indicates the slowest.

Research

JoVE Journal - Neuroscience
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The Evoked Potential Operant Conditioning System (EPOCS): A Research Tool and an Emerging Therapy for Chronic Neuromuscular Disorders

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Cited by 9 •

2022

The Evoked Potential Operant Conditioning System aids scientific investigation of sensorimotor function and can administer targeted neurobehavioral training that can impact sensorimotor rehabilitation in neuromuscular disorders. This article describes its capabilities and illustrates its application in modifying a simple spinal reflex to achieve lasting improvement in motor function.

Generating Neuromuscular Junctions Using a Microfluidic Device

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2025

The video demonstrates the formation of neuromuscular junctions using a microfluidic device. Neural precursor cells and muscle progenitor cells are seeded into different wells within the device and left to mature into motor neurons and myotubes, respectively. The creation of a volume and chemical gradient leads to the development of active neuromuscular junctions.

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