• The Journal of Korean society of community based occupational therapy
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• v.3 no.1
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• pp.43-53
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• 2013

Objective : The aim of this study was to identify the effect of visual feedback on balance and ADL in patient with cerebellar ataxia. Method : Between May of 2013, visual feedback applied to cerebellar ataxia patient. The visual feedback applied five times a week for two weeks to patient who are inpatients of Dae-jeon. To assess changes in balance, we performed the LOS, Romberg, BBS, We also assessed ADL using Canadian occupational performance measure(COPM). Result : For the patient of cerebellum ataxia, we can confirm the limitation of stability, and after the intervention, we can check out the changes which are maintained at Romberg test and Berg Balance Scale. In terms of daily activities, such as taking bath, moving to somewhere, using transportation, doing the laundry, and meeting activity, the level of performance and satisfaction has increased in all five fields. Conclusion : After the visual biofeedback training, patients with cerebellar Ataxia showed more increase in balance and ADL.

• 건강소식
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• v.3 no.5 s.20
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• pp.15-16
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• 1975

• Journal of Yeungnam Medical Science
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• v.15 no.2
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• pp.381-390
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• 1998

Incontinentia pigmenti is characterized by irregular linear blisters with erythematous lesions which are developed from birth or later, verrucous papules on the extremities which are noted after a few weeks or months, and the appearance of streaks, spots and swirls of hyperpigmentation. This disorder is known as a systemic disorder caused by a defect at the developmental stage of organs originated from ectoderm or mesoderm. We experienced an incontinentia pigmenti in a male newborn infant who did not have any family history and had cutaneous lesions, which were in bullous and verucous stages, ophthalmic problems, and neurologic abnormalities.

• Journal of the korean academy of Pediatric Dentistry
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• v.36 no.4
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• pp.563-567
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• 2009

Incontinentia pigmenti(Bloch-Sulzberger syndrome) is a sex-linked hereditary disorder so girls are almost exclusively affected. The frequency rate is approximately 1:40,000 among girls. It is associated with skin, ocular, dental, skeletal and central nervous deformities. We reported 2 cases of medically diagnosed IP patients who were 4 and 5 years old girls. They had thin and sparse hair, and represented congenital missing of multiple primary and permanent teeth, accessory cusps and cone-shaped crowns. Therefore we report the dental manifestations and treatment progress.

• Journal of the korean academy of Pediatric Dentistry
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• v.32 no.4
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• pp.682-686
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• 2005

Incontinentia pigmenti(IP), so called Block-Sulzberger syndrome is a rare genodermatosis that occurs almost in female infant; usually lethal in males, X-linked dominantly inherited disorder. IP is characterized by abnormalities of mesodermal and ectodermal tissues including eye, tooth, skin, nail, breast and hair as well as neurological deficiencies. Dental problems are congenital missing of teeth, delayed eruption, abnormal crown shape and so on. Here is a case of 6 year-old female with IP. She had congenital missing of primary and permanent teeth, delayed eruption, maxillary deficiency and extra cusps, resulting in unstable occlusion. Systemically, she had a history of operating eyes due to problem of retina and hyperpigmented macules on her trunk and extremities as typical character of IP.

• 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 Industrial Convergence
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• v.22 no.3
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• pp.51-65
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• 2024

This study aims to understand positive changes in balance and gait function and difficulties in the instructor's guidance process through repetitive basic motor skill-based physical activities targeting people with cerebellar ataxia. For this purpose, five adults with cerebellar ataxia were selected as research subjects, and their three instructors participated as research participants. To collect quantitative data, the average and standard deviation were examined through pre-and post-evaluation of the research participants' physical activity classes for 16 weeks. The mean and standard deviation of the collected data were calculated using the Shapiro-Wilk test in the SAS 9.1 statistical program (p<.05). As a qualitative data collection method, the cultural description method of developmental research(DSR) proposed by Spradley(1980) was adopted, and the collected data were analyzed inductively according to the analysis method of Mertens(1990). Through this, 31 concepts, 10 subcategories, and 4 categories were discovered. As a result, the difficulties experienced by the research participants included insufficient guidance environment, dissatisfaction of consumers, difficulty in guidance, and non-cooperation of colleagues. Based on these research results, it was found that institutional, legal, and policy support should be provided not only to public institutions but also to private physical activity institutions that can use vouchers in order to maintain the balance of adults with cerebellar ataxia as well as to guide their physical activities.

• Annals of Clinical Neurophysiology
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• v.3 no.2
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• pp.151-155
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• 2001

SCA 1 is an autosomal dominant disorder. The phenotypic manifestations of SCA 1 are not specific, and thus, the diagnosis of SCA 1 rests on molecular genetic testing. The number of CAG repeats ranges from 6-44 in normal alleles and from 39-81 repeats in disease-causing alleles(chromosomal locus 6p22-23). The main clinical features of SCA 1 are ataxia, dysarthria, ophthalmoparesis, extrapyramidal signs without retinal degeneration. A 24-year-old woman with suspected family history presented with progressive cerebellar ataxia, dysarthria, ptosis, titubation and general weakness. Brain MRI revealed a moderate cerebellar atrophy. A genomic polymerase chain reaction(PCR) analysis showed 66 repeats at the SCA 1 locus.

• Clinical and Experimental Pediatrics
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• v.53 no.4
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• pp.607-611
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• 2010

Bickerstaff's brainstem encephalitis (BBE) is a rare disease diagnosed by specific clinical features such as 'progressive, relatively symmetric external ophthalmoplegia and ataxia by 4 weeks' and 'disturbance of consciousness or hyperreflexia' after the exclusion of other diseases involving the brain stem. Anti-ganglioside antibodies (GM, GD and GQ) in the serum or cerebrospinal fluid (CSF) are sometimes informative for the diagnosis of BBE because of the rarity of positive findings in other diagnositic methods: brain magnetic resonance imaging (MRI), routine CSF examination, motor nerve conduction study, and needle electromyography. We report a rare case of childhood BBE with elevated anti-GM1 antibodies in the serum, who had specific clinical symptoms such as a cranial polyneuropathy presenting as ophthalmoplegia, dysarthria, dysphagia, and facial weakness; progressive motor weakness; altered mental status; and ataxia. However, the brain MRI, routine CSF examination, nerve conduction studies, electromyography, somatosensory evoked potentials, and brainstem auditory evoked potentials were normal. BBE was suspected and the patient was successfully treated with intravenous immunoglobulins.

• Journal of the korean academy of Pediatric Dentistry
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• v.42 no.2
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• pp.180-187
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• 2015

Incontinentia pigmenti, also called Bloch-Sulzberger syndrome, is a rare X-linked inherited dominant disorder that affects females, but causes spontaneous abortion of prenatal males. Incontinentia pigmenti is a systemic disease with clinical features similar to ectodermal dysplasia, including congenitally missing teeth. The pathogenesis is related to gene mutations in NF-kappa-B essential modulator on chromosome Xq28. Incontinentia pigmenti is caused by a defect in the developmental stage of organs originating from the ectoderm or mesoderm and involves the skin, eyes, hair, teeth and central nervous system. This report discusses the management of three cases of 3 to 5 years old females with incontinentia pigmenti and accompanying multiple missing teeth. The cases had sparse hair, and showed oligodontia and anomalous crowns with supplementary cusps in the posterior teeth and conical anterior teeth. Removable space maintainers were applied, achieving improved esthetics, recovery of mastication and increased self-esteem in the patients.