Abstract
A family in which both Werdnig-Hoffmann disease and chronic distal spinal muscular atrophy occurred, with apparent autosomal dominant inheritance, is reported from the Department of Neurology, Mayo Clinic Jacksonville, FL and Johns Hopkins University School of Medicine, Baltimore, MD.
Highlights
A family in which both Werdnig-Hoffmann disease and chronic distal spinal muscular atrophy occurred, with apparent autosomal dominant inheritance, is reported from the Department of Neurology, Mayo Clinic Jacksonville, FL and Johns Hopkins University School of Medicine, Baltimore, MD
The results of CT and MRI of the brain were analyzed and neurological development was assessed from the neonatal period in 7 children with congenital myotonic dystrophy aged 2-8 years at the Division of Neurology, Chiba Children's Hospital and Department of Pediatrics, Chiba University School of Medicine, Chiba, Japan
The mental retardation commonly found in children with congenital myotonic dystrophy was not attributable to brain damage due to perinatal asphyxia
Summary
The results of CT and MRI of the brain were analyzed and neurological development was assessed from the neonatal period in 7 children with congenital myotonic dystrophy aged 2-8 years at the Division of Neurology, Chiba Children's Hospital and Department of Pediatrics, Chiba University School of Medicine, Chiba, Japan. Ventricular dilatation seen on the first day of life in 2 of 3 infants had not progressed on follow-up CTs at intervals of 1-6 years. Low developmental quotients ranging from 12 to 72 were not correlated with the extent of the periventricular hyperintensity or the ventriculomegaly
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