Pathology - Myotonic Dystrophy
A condition that is autosomal dominant and causes an increase in CTG repeats in the myotonin protein kinase gene on chromosome 19. appears most frequently in the 20s and 30s, though it can also appear throughout early childhood. Pathology Internal nuclei in muscle are increased, along with ring fibers (cytoplasmic bands inside the fiber's center), fiber splitting, and necrosis of the intrafusal fibers in muscle spindles. Clinical Signs and Symptoms Myotonia, or the inability to relax tensed muscles, frequently manifests as muscle stiffness, as well as weakening and atrophy in the muscles of the distal limbs and face. connected to reduced glucose tolerance, baldness, cataracts, and shrinkage of the testicles. Phenytoin treatments for myotonia. Huntington's disease, fragile X syndrome, and myotonic dystrophy all exhibit anticipation, a condition in which the frequency of repetitions rises with each generation and causes increasingly severe disease symptoms.
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