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Related Concept Videos

Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

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Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
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Rheumatic heart disease or RHD is a chronic condition that results from rheumatic fever, causing permanent damage to the heart valves.Etiology and Risk FactorsIt primarily arises from rheumatic fever, an inflammatory disease that can develop after untreated or inadequately treated group A streptococcal (GAS) pharyngitis. Streptococcus spreads through direct contact with oral or respiratory secretions. While the bacteria are the causative agents, factors like malnutrition, overcrowding, poor...
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Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
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Cardiomyopathy, or CMP, is a group of diseases affecting the myocardial structure, impairing its ability to pump blood effectively. This condition can lead to arrhythmias, heart failure, or sudden cardiac death.Cardiomyopathies are classified into primary and secondary categories:Primary Cardiomyopathy refers to conditions involving only the heart muscle that are often idiopathic (of unknown cause) or genetic. They primarily affect the myocardium without the involvement of other systemic...
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The clinical conditions affecting the skeletal muscle tissue are broadly categorized as musculoskeletal and neuromuscular disorders.
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Related Experiment Video

Updated: Feb 17, 2026

Functional Characterization of Endogenously Expressed Human RYR1 Variants
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Hirayama disease.

Heli Sätilä, Janne Lähdesmäki, Eeva Mäkelä

    Duodecim; Laaketieteellinen Aikakauskirja
    |December 1, 2017
    PubMed
    Summary

    Hirayama disease, a cervical myelopathy, causes progressive muscle weakness in young men. Early use of a soft collar can effectively halt its progression.

    Area of Science:

    • Neurology
    • Neuroscience
    • Clinical Medicine

    Background:

    • Hirayama disease is a rare, self-limiting neurological disorder.
    • It primarily affects young males, presenting with motor neuron involvement.

    Observation:

    • Cardinal symptoms include progressive muscular weakness and atrophy.
    • Muscle deficits typically involve C7-Th1 innervated muscles.
    • Weakness can be symmetrical or asymmetrical.

    Findings:

    • The condition is characterized by progressive muscle wasting.
    • Motor neuron degeneration at the C7-Th1 level is a key feature.

    Implications:

    • Early diagnosis and intervention are crucial for managing Hirayama disease.

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  • The use of a soft daytime collar can prevent disease progression.
  • This intervention offers a conservative and effective treatment option.