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Congenital Myotonic Dystrophy

Congenital myotonic dystrophy is a relatively rare condition in which myotonia (defined electrically) is mostly absent in the affected newborn infant, but becomes apparent in the older infant. Histopathology shows a consistent feature of arrested development and maturation of muscle fibers, but there is, currently, no adequate explanation for this phenomenon. Patients with congenital myotonic dystrophy rarely survive without aggressive ventilatory support, and survivors, without exception, are severely multiply handicapped. [Pg.316]

Harper, P. S. (1975). Congenital myotonic dystrophy in Britain. II. Genetic aspects. Arch. Dis. Child., 50,514... [Pg.136]

At 27 national hospitals, 1092 (51%) of the 2147 inpatients with muscular dystrophy (MD) were receiving LTV and 61% of the patients receiving LTV were undergoing NIPPV in 2005 (Table 1) (10). NIPPV was used for 71% in Duchenne muscular dystrophy, 66% in limb-girdle dystrophy, 61% in myotonic dystrophy, 53% in Becker s MD, and 50% in Fukuyama congenital progressive MD (10). Sixty percent of the patients, on either NIPPV or TIPPV, required 24-hour ventilation. [Pg.551]


See other pages where Congenital Myotonic Dystrophy is mentioned: [Pg.315]    [Pg.316]    [Pg.223]    [Pg.315]    [Pg.316]    [Pg.223]    [Pg.315]    [Pg.722]    [Pg.75]    [Pg.399]    [Pg.399]    [Pg.137]    [Pg.133]   
See also in sourсe #XX -- [ Pg.316 ]




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Congenital

Dystrophy

Myotonic

Myotonic Dystrophy

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