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Dystrophia Musculorum Progressiva: Clinical and Diagnostic Criteria, Inheritance.

AMA Arch Intern Med. 1953;91(6):819. doi:10.1001/archinte.1953.00240180128022.
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This is a most thorough study of Dystrophia Musculorum Progressiva from a clinical point of view. The author, after reviewing the copious literature, discusses the clinical criteria (findings, features of the disease, course, and prognosis), the diagnosis (with particular reference to muscle biopsy, electromyography, acetylcholine-test, creatine-urea-metabolism), the differential diagnosis, in all its many aspects, of muscular as well as neurological disorders, the heredity (including 110 cases investigated by the author himself), and the etiology of the disease.

The conclusion from this impressive work is that dystrophia musculorum progressiva is hereditary, with overwhelming dominance for the facioscapulohumeral type. The scapulohumeral type seems to be predominantly sporadic, and its inheritance cannot be definitely established. The lower-extremity types show an incidence of less than the expected 25% of recessive inheritance, which may be explained by decreased manifestation or intermingling of acquired cases. The diagnostic criteria mentioned above show no difference between the different


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