Congenital myotonic dystrophy in Britain
نویسنده
چکیده
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 confirmed. Characteristic features include neonatal hypotonia, motor and mental retardation, and facial diplegia. A high incidence of talipes occurs at birth together with hydramnios and reduced fetal movements during pregnancy, factors suggesting prenatal onset of the disorder in many cases. Prolonged survival is the rule after infancy, but the occurrence of numerous neonatal deaths in the sibships suggests the existence of unrecognized cases dying in the neonatal period.
منابع مشابه
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 confirmed. Characteristic features included neonatal hypotonia, motor and mental retardation, and facial diplegia. A high incidence of t...
متن کاملCongenital myotonic dystrophy in Britain. II. Genetic basis.
Genetic analysis of 54 sibships containing 70 patients with congenital myotonic dystrophy has shown paternal transmission in only one case, the disorder being maternally transmitted in 51 sibships. No instance of new mutation was found. At least half the sibs were unaffected; 9 sibs were affected without definite congenital involvement. No evidence for genetic heterogeneity was found, most affe...
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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 is an autosomal dominant condition with estimated incidence of 13/100000(1). We describe here a case of congenital myotonic dystrophy suspected antenatally due to maternal poly- hydramnios on antenatal ultrasound scan. A twenty-seven-year-old primigravida
INDIAN PEDIATRICS 746 VOLUME 41__JULY 17, 2004 dystrophy as a significant cause of idiopathic polyhydramnios. They suggested that all women having polyhydramnios with either a family history of myotonic dystrophy or ultrasonographic evidence of fetal hypotonia, including positional abnormalities of extremities should be offered DNA testing. It appears that prenatal ventriculomegaly may also be ...
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Thomas and colleagues (pp. 1122-1133) demonstrate severe dysregulation of developmentally regulated alternative splicing and polyadenylation in congenital myotonic dystrophy (CDM). In doing so, they also highlight the importance of these post-transcriptional processes during normal fetal muscle development. Finally, they generate and characterize a mouse model of CDM that lacks all three Muscle...
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