Physical function and mobility in children with congenital myotonic dystrophy
نویسندگان
چکیده
منابع مشابه
Congenital myotonic dystrophy: respiratory function
The clinical features of 14 neonates with congenital myotonic dystrophy were retrospectively reviewed. These babies represent all the new cases of congenital myotonic dystrophy seen in this department since 1982. Twelve babies were referred because of either difficulties in diagnosis or difficulties in the management of their respiratory problems. Of the 14 babies, 13 had birth asphyxia, 11 wer...
متن کاملCongenital myotonic dystrophy in Britain
Harper, P. S. (1975). Archives of Disease in Childhood, 50, 505. Congenital myotonic dystrophy in Britain. I. Clinical aspects. A clinical and genetic study of congenital myotonic dystrophy in Britain has been carried out in 70 patients from 54 sibships. The clinical aspects are analysed here, and the existence of a syndrome clinically distinct from myotonic dystrophy of later onset is confirme...
متن کاملLeft ventricular diastolic function in congenital myotonic dystrophy.
OBJECTIVE Examination of left ventricular function and conduction abnormalities in myotonic dystrophy. DESIGN Twelve patients (median age, 13.7 years) with myotonic dystrophy had detailed electrocardiography and echocardiography performed. Echocardiographic parameters were compared with body surface area (BSA) matched median normal values. RESULTS Fractional shortening was slightly reduced ...
متن کاملCongenital myotonic dystrophy with asymptomatic mother.
Myotonic dystrophy is an autosomal dominant neuromuscular disorder characterised by extreme pleiotropism and variability in disease expression. A congenital form is rare and is observed in infants born to symptomatic mothers with multisystem involvement. We report a case of a neonate with congenital myotonic dystrophy born to an asymptomatic mother.
متن کاملCongenital myotonic dystrophy in a national registry.
AIM To describe the neonatal symptoms, developmental problems and chronic multisystem medical morbidities of congenital myotonic dystrophy (CDM) patients registered in the United States National Registry of Myotonic Dystrophy - a disease-specific, self-report program maintained since 2002. Comparisons with the Canadian Paediatric Surveillance Program for CDM are highlighted. METHODS Genetical...
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ژورنال
عنوان ژورنال: Muscle & Nerve
سال: 2017
ISSN: 0148-639X
DOI: 10.1002/mus.25482