Neuroimaging study of myotonic dystrophy. I. Magnetic resonance imaging of the brain

Hashimoto, Toshiaki; Tayama, Masanobu; Miyazaki, Masahito; Murakawa, K; Kawai, Hisaomi; Nishitani, Hiromu; Kuroda, Yasuhiro

doi:10.1016/0387-7604(94)00096-g

Cited by 41 publications

(30 citation statements)

References 14 publications

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“…In children with congenital DM1, white-matter hyperintensity, ventriculomegaly, mild atrophy of the frontal cerebral cortex, hypoplasia of the corpus callosum, brainstem hypoplasia, and cerebellar abnormalities are described. 25 Neuroimaging studies of childhood DM1 are lacking. No neuroimaging was performed in our study, but it would be of great interest to include magnetic resonance imaging, positron emission tomography, and single photon emission computed tomography in future studies.…”

Section: Discussionmentioning

confidence: 99%

Cognition and adaptive skills in myotonic dystrophy type 1: a study of 55 individuals with congenital and childhood forms

Ekström

Hakenäs-Plate

Tulinius

et al. 2009

Develop Med Child Neuro

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Aims To investigate cognitive abilities and adaptive skills in children and adolescents with myotonic dystrophy type 1 (DM1) and correlate the findings to the cytosine‐thymine‐guanine (CTG) repeat expansion size. Method Cognitive level was assessed in 55 children and adolescents with DM1 (31 males, 24 females; mean age 12y 1mo, SD 5y 1mo; range 2y 7mo–21y 5mo) divided into the following categories: severe congenital DM1 (n=19), mild congenital DM1 (n=18), and childhood DM1 (n=18). The Griffiths Mental Developmental Scale, the Wechsler Scales, and the Vineland Adaptive Behavior Scales (VABS) for adaptive skills were used for this purpose. Results Learning disability was found in 95% of the severe congenital group, 83% of the mild congenital group, and 89% of the childhood DM1 group. The more severe the form of DM1, the lower the full‐scale IQ (FSIQ; rs=0.28, p=0.044). The individuals with severe congenital and childhood DM1 had a significantly higher verbal IQ than performance IQ (severe congenital: mean difference 5.7, SD 5.7, p=0.008; childhood DM1: mean difference 9.8, SD 18.0, p=0.038). CTG repeat expansion correlated negatively with FSIQ (rs=−0.63, p<0.006). Almost all participants showed poor results on the VABS. There was a positive relationship between cognitive level and adaptive skills in the mild congenital (rs=0.95, p<0.01) and childhood DM1 groups (rs=0.92, p<0.01). Interpretation Children and adolescents with DM1 exhibit significant cognitive and adaptive problems.

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Section: Discussionmentioning

confidence: 99%

Cognition and adaptive skills in myotonic dystrophy type 1: a study of 55 individuals with congenital and childhood forms

Ekström

Hakenäs-Plate

Tulinius

et al. 2009

Develop Med Child Neuro

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“…DM is a signifi cant cause of idiopathic polyhydramnios and should be considered as part of the differential diagnosis in these cases [8]. Prenatal ventricular dilatation is reported to be present in up to 80% cases of CDM [15][16][17][18]. The presence of polyhydramnios, altered fetal movements and ventriculomegaly on ultrasound heralds CDM and should instigate defi nitive genetic testing of the mother and the fetus.…”

Section: Discussionmentioning

confidence: 99%

Congenital Myotonic Dystrophy

Upadhyay¹,

Thomson

Luckas³

2005

Fetal Diagn Ther

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We describe a case of severe congenital myotonic dystrophy (CDM). A 38-year-old primigravida, who was known to suffer from mild myotonic dystrophy (DM), conceived spontaneously and booked for confinement at 11 weeks in our unit. The couple had been fully counseled about the risks of transmission of this condition to their offspring before embarking on this pregnancy. Despite being fully aware of the risks, they declined prenatal diagnosis. The pregnancy was monitored by serial ultrasound scans. The diagnosis of CDM was suspected by ultrasound markers of borderline ventriculomegaly, polyhydramnios, and reduced fetal movements. The pregnancy ended prematurely at 33 weeks in an emergency caesarean section because of severe fetal compromise. The neonate died almost immediately after birth. The genetic analysis of cord blood confirmed severe DM. This case highlights the importance of ultrasound markers for the diagnosis of CDM in the absence of definitive prenatal diagnosis.

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“…Most changes were periventricular area and the white matter signal change was associated with mild or moderate loss of white matter and corresponding ventriculomegaly. Hashimoto et al [84] also showed ventriculomegaly and/or periventricular white matter changes in all seven of their patients, but also observed brainstem atrophy, thin corpus callosum and cerebellar white matter high signal change in some children. Similar findings are reported in adults with less frequency [84].…”

Section: Neuroimaging and Central Nervous System Pathologymentioning

confidence: 99%

“…Hashimoto et al [84] also showed ventriculomegaly and/or periventricular white matter changes in all seven of their patients, but also observed brainstem atrophy, thin corpus callosum and cerebellar white matter high signal change in some children. Similar findings are reported in adults with less frequency [84]. MR spectroscopy shows lower N-acetyl aspartate/ choline and creatine ratios compared to normal controls [85].…”

Section: Neuroimaging and Central Nervous System Pathologymentioning

confidence: 99%

Congenital Myotonic Dystrophy

Campbell¹

2012

J Neurol Neurophysiol

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Neuroimaging study of myotonic dystrophy. I. Magnetic resonance imaging of the brain

Cited by 41 publications

References 14 publications

Cognition and adaptive skills in myotonic dystrophy type 1: a study of 55 individuals with congenital and childhood forms

Cognition and adaptive skills in myotonic dystrophy type 1: a study of 55 individuals with congenital and childhood forms

Congenital Myotonic Dystrophy

Congenital Myotonic Dystrophy

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