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Related Concept Videos

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...
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...
Sex-linked Disorders01:43

Sex-linked Disorders

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
Satellite Stem Cells and Muscular Dystrophy01:21

Satellite Stem Cells and Muscular Dystrophy

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...
Lethal Alleles02:41

Lethal Alleles

Agouti: A Lethal Allele
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
Animal Mitochondrial Genetics02:59

Animal Mitochondrial Genetics

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In Vivo Electrophysiological Measurement of Compound Muscle Action Potential from the Forelimbs in Mouse Models of Motor Neuron Degeneration
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Published on: June 15, 2018

Hereditary myelopathies.

Peter Hedera

    Continuum (Minneapolis, Minn.)
    |July 20, 2012
    PubMed
    Summary
    This summary is machine-generated.

    Hereditary myelopathies are diverse spinal cord disorders causing spasticity and weakness. Understanding these conditions aids in differentiating them from treatable myelopathies.

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    Area of Science:

    • Neurology
    • Genetics
    • Neuroscience

    Background:

    • Hereditary myelopathies present with progressive spasticity, ataxia, sensory loss, and weakness, indicating spinal cord dysfunction.
    • Recent research shows many hereditary myelopathies involve systemic processes and widespread axonal degeneration.
    • The classification of hereditary myelopathies is crucial for distinguishing them from other treatable myelopathies.

    Purpose of the Study:

    • To categorize hereditary myelopathies for better clinical understanding and differentiation.
    • To provide a framework for diagnosing and managing these complex neurological disorders.

    Main Methods:

    • Literature review and synthesis of current research on hereditary myelopathies.
    • Classification of hereditary myelopathies into distinct etiological and clinical categories.

    Main Results:

    • Hereditary myelopathies are categorized into four main groups: hereditary spastic paraplegias, motor neuron disorders, spinocerebellar and spastic ataxias, and metabolic disorders (including leukodystrophies).

    Conclusions:

    • The classification provides a structured approach to understanding the diverse spectrum of hereditary myelopathies.
    • This categorization aids clinicians in differentiating hereditary conditions from other myelopathies, facilitating appropriate diagnosis and management.