• Childhood Kidney Diseases
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• v.6 no.2
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• pp.266-271
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• 2002

There are several diseases characterized by neurologic abnormalities and renal disease. Joubert syndrome is one of them. Joubert syndrome Is a relatively rare autosomal recessive syndrome. The most significant and constant neurologic finding is hypoplasia of the cerebellar vermis. Joubert syndrome is associated with hypotonia, retinal dystrophy, abnormal eye movement, delayed development, abnormal respiratory pattern (neonatal episodic tachypnea or apnea) and nephronophthisis. We report a boy with Joubert syndrome associated with nephrocalcinosis and agenesis of the cerebellar vermis. This patient had also abnormal eye movement, hypotonia, abnormal respiratory pattern, delayed development and chronic renal failure.

• The Journal of the Korea Contents Association
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• v.18 no.11
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• pp.634-642
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• 2018

People with spinocerebellar ataxia, a hereditary and progressive neurogenic disorder, suffer from ataxic dysarthria due to cerebellar dystrophy. This study was designed to examine if intensive motor speech treatment yields improvement in progressive ataxic dysarthria and if then, to investigate magnitude of therapeutic effect. SPEAK $OUT!^{(R)}$ was provided to a 55-year old female diagnosed with SCA for improving motor speech functions. Magnitude of therapeutic effect was large in changes of MPT and vocal intensity across speech tasks. Small effect size was found in changes of fundamental frequency, however, large therapeutic effect was observed in changes of frequency range. In addition, improvement of vocal quality based on jitter, shimmer, and HNR was observed with large therapeutic effect size and vowel space was expanded, particularly, due to F1. Lastly, VHI scores were decreased. Intensive motor speech treatment, called as SPEAK $OUT!^{(R)}$ was effective enough to observe improvement in vocal intensity, frequency range, and vocal quality, expanding vowel space and lowering VHI scores. Based on the results of this case study, further efficacy evaluation of SPEAK $OUT!^{(R)}$ for improving progressive ataxic dysarthria in people with SCA is required.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.17 no.2
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• pp.48-54
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• 2017

Purpose: Fukuyama congenital muscular dystrophy (FCMD) is a rare, autosomal-recessive disorder characterized by early-onset hypotonia associated with brain malformations in dystroglycanopathy. Although the wide spectrum of congenital muscular dystrophies causes difficulty in diagnosis, correlating the genotype with the clinical phenotype can help diagnose FCMD. Here, we evaluated the correlation of targeted molecular genetic analysis of FKTN gene mutation with the FCMD phenotype. Methods: This study was conducted retrospectively with 9 subjects. Inclusion criteria included clinical symptoms characterized by early-onset hypotonia with magnetic resonance imaging (MRI) featuring brain malformations. FKTN gene-alteration analysis was performed using various FKTN gene-analysis methods, including sequencing. Results: Among the 9 subjects studied, 4 (44.4%) were male and 5 (55.6%) were female. The median age of onset of the first symptom was 3.1 months. The first symptom was a delayed milestone in 6 cases (66.7%). All 9 subjects (100%) presented with early-onset hypotonia and global delayed development. All subjects presented with cortical malformation in their brain MRIs. Of the 9 subjects, 6 subjects had previously undergone muscle biopsy and 4 cases (4/6; 66.7%) showed dystrophic or myopathic features. Pathogenic mutations causing FCMD were identified in 3 cases. Conclusions: In this study, all 3 subjects with FKTN mutations showed important MRI findings (pachygyria and cerebellar dysplasia). These data suggest that patients with characteristic phenotypes who show pachygyria and cerebellar abnormalities in brain MRIs may have a high probability of being diagnosed with FCMD.