1. Any of various unrelated, noninfectious, often genetic disorders characterized by progressive deterioration or structural alteration of a body part.
2. A degenerative disorder caused by inadequate or defective nutrition. No longer in scientific use.
any of various diseases characterized by weakening or defective function of the process of nutrition, resulting in degeneration of the muscles. See also food and nutrition. — dystrophic, adj.
A 12-year-old boy with a previous diagnosis of congenital MD type 1 (cytosine-thymine-guanine triplet expansion in the 3'-nontranslated region of the dystrophia myotonica protein kinase gene) was admitted in November 2016 because of symptoms of bowel obstruction after complaining of abdominal pain, vomiting, and diarrhea for 2 days.
The predominant mutation responsible for DM1 is an expansion of a CTG trinucleotide repeat in the 3' untranslated region of the dystrophia myotonica protein kinase (DMPK) gene located on chromosome 19q13.3 (3-5).
DM1 is an autosomal dominant genetic disorder associated with the cytosine-thymine-guanine (CTG) repeat expansion in 3'untranslated region in dystrophia myotonica-protein kinase ( DMPK ) gene on chromosome 19q13.3.
Isis Pharmaceuticals stated that ISIS-DMPK-2.5Rx is designed to reduce the production of the toxic dystrophia myotonica-protein kinase (DMPK) RNA in cells, including muscle cells, for the potential treatment of DM1.
FED was first described in 1910 by the Viennese ophthalmologist, Ernst Fuchs, who reported epithelial and stromal oedema in a group of 13 patients, which he described as 'dystrophia epithelialis corneae.' (4) These are now known to represent advanced stages of FED.
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