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Related Concept Videos

Huntington Disease l: Introduction01:21

Huntington Disease l: Introduction

Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...
Disorders of the Skeletal Muscle01:28

Disorders of the Skeletal Muscle

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...
Alterations in Muscle Tone lll01:11

Alterations in Muscle Tone lll

Rigidity and myotonia are distinct abnormalities of muscle tone that affect resistance and relaxation during movement. Although both involve altered muscle contraction, they arise from different neurological and muscular mechanisms.CharacteristicsRigidity is characterized by uniform resistance to passive movement across the entire range, independent of speed, affecting flexors and extensors equally. It may appear as lead-pipe rigidity (smooth, constant resistance) or cogwheel rigidity...
Multiple Sclerosis l: Introduction01:19

Multiple Sclerosis l: Introduction

Multiple sclerosis is a chronic autoimmune disease of the central nervous system (CNS) that affects the brain, spinal cord, and optic nerves. It is an inflammatory demyelinating disorder and a leading cause of neurological disability in young adults.EpidemiologyMS commonly begins between 20 and 40 years of age and is twice as common in women. Its exact cause remains unclear, but genetic susceptibility contributes, with higher risk in first-degree relatives and identical twins. A greater...
Pedigree Analysis01:35

Pedigree Analysis

Overview
Myasthenia Gravis ll: Pathophysiology01:22

Myasthenia Gravis ll: Pathophysiology

The disease process of myasthenia gravis begins at the neuromuscular junction, where antibodies attack key proteins needed for muscle activation. This immune reaction weakens signal transmission, leading to the characteristic muscle fatigue and weakness that define the condition.Immune-Mediated DamageIn most individuals, antibodies target acetylcholine receptors (AChRs) on the postsynaptic membrane of muscle cells. By blocking acetylcholine binding, these antibodies prevent the nerve signal...

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Related Experiment Video

Updated: Jun 21, 2026

In Vivo Electrophysiological Measurement of Compound Muscle Action Potential from the Forelimbs in Mouse Models of Motor Neuron Degeneration
06:35

In Vivo Electrophysiological Measurement of Compound Muscle Action Potential from the Forelimbs in Mouse Models of Motor Neuron Degeneration

Published on: June 15, 2018

Hereditary predominantly motor neuropathies.

Davide Pareyson1, Chiara Marchesi, Ettore Salsano

  • 1Unit of Neurology VIII, Clinics of Central and Peripheral Degenerative Neuropathies, Department of Clinical Neurosciences, IRCCS Foundation, C. Besta Neurological Institute, Milan, Italy. dpareys@istituto-besta.it

Current Opinion in Neurology
|August 15, 2009
PubMed
Summary
This summary is machine-generated.

Recent advances in Charcot-Marie-Tooth disease (CMT) include identifying new gene mutations and understanding disease mechanisms. This progress improves diagnosis, prognosis, and therapeutic strategies for this inherited neuromuscular disorder.

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Last Updated: Jun 21, 2026

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Published on: June 15, 2018

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Area of Science:

  • Neurology
  • Genetics
  • Molecular Biology

Background:

  • Charcot-Marie-Tooth disease (CMT) is the most common inherited neuromuscular disorder.
  • Understanding CMT's genetic basis and pathophysiology is crucial for developing effective treatments.

Purpose of the Study:

  • To review recent advancements in Charcot-Marie-Tooth disease (CMT) research.
  • To highlight progress in genetic identification, disease mechanisms, natural history studies, and therapeutic strategies.

Main Methods:

  • Literature review of recent studies on CMT.
  • Analysis of findings from genetic research, cellular and animal models, and clinical trials.

Main Results:

  • Identification of novel mutations in newly discovered genes, refining phenotype-genotype correlations.
  • Enhanced understanding of pathophysiological mechanisms across different CMT types.
  • Progress in natural history studies, outcome measure development, and therapeutic trials, including ascorbic acid for CMT type 1A.

Conclusions:

  • Recent advances are transforming clinical management of CMT, improving diagnostics and prognosis.
  • Research is illuminating fundamental pathways in axonal transport and intracellular organelle function.
  • Increased hope for effective future treatments for Charcot-Marie-Tooth disease.