Manifestation of myotonic dystrophy

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  • Опубліковано 27 лис 2023
  • Pathophys: Delayed skeletal muscle relaxation after voluntary contraction
    Signs and symptoms:
    Muscle degeneration
    Cataracts
    Premature balding
    Diabetes mellitus
    Thyroid dysfunction
    Adrenal insufficiency
    Gonadal atrophy
    Cardiac abnormalities (conduction dysfunction, cardiomyopathy, and mitral valve prolapse)
    Respiratory muscle weakness → restrictive respiratory pattern →
    Mild arterial hypoxemia
    Reduced vent response to hypoxemia and hypercapnia
    Ineffective cough
    GI muscle weakness →
    Gastric atony → delayed gastric emptying
    Intestinal hypomobility
    Pharyngeal muscle weakness
    → Risk for pulmonary aspiration

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