• Journal of Genetic Medicine
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• v.13 no.2
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• pp.105-110
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• 2016

Congenital myotonic dystrophy (CMD) which is transmitted in an autosomal-dominant manner, can also be observed in newborns born to asymptomatic parents who have a myotonic dystrophy type 1 or premutation allele, especially from the mother. A mother with myotonic dystrophy could be subfertile and the pregnancy could be complicated with the risk of a preterm birth. Newborns with CMD may demonstrate symptoms such as hypotonia and poor motor activity, as well as respiratory and feeding difficulties. Additionally, CMD has a high mortality rate at birth. Detection of the signs and symptoms during pregnancy is helpful for a prenatal diagnosis of CMD in cases where the family history is not known.

• Annals of Clinical Neurophysiology
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• v.13 no.1
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• pp.48-50
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• 2011

Myotonic dystrophy type 1 (DM1) is an autosomal dominant multisystem disorder caused by the expansion of cytosine-thymine-guanine (CTG) repeats in the myotonic dystrophy protein kinase (DMPK) gene. Some literatures indicated that DM1 had incidental CNS lesions such as white matter lesions and diffuse gray matter atrophy. We report a patient with DM1 whose brain magnetic resonance image (MRI) showed multifocal hyperintense lesions and cystic lesion on both frontotemporoparietal lobes.

• Annals of Clinical Neurophysiology
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• v.6 no.1
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• pp.61-63
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• 2004

The copy numbers of the CTG repeats are known to relate to the severity of clinical symptoms for myotonic dystrophy. The positive correlation between clinical manifestations and CTG repeat size has been demonstrated previously. A genetically confirmed myotonic dystrophy patient with 90 CTG repeat number had more severe clinical manifestation than brother with 120 CTG repeats, in adulthood.

• Annals of Clinical Neurophysiology
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• v.3 no.1
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• pp.1-8
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• 2001

The distal myopathies(DM) are clinically defined as inherited or sporadic primary muscle disorders characterized by progressive muscular weakness and atrophy beginning in the hands or feet and pathologically by myopathic changes in skeletal muscles. The pathologic changes are somewhat similar to those seen in chronic muscular dystrophy, but necrotic and regenerative processes are less prominent and creatine kinase levels are either normal or only mildly elevated. The most representative diseases are dominantly inherited Welander distal myopathy and tibial muscular dystrophy, and the recessively inherited distal myopathy with rimmed vacuoles and distal muscular dystrophy(Miyoshi myopathy). At present, further study is necessary to determine why rimmed vacuoles are so common in the DM, and what role they play in the pathogenesis of muscle fiber atrophy and loss, predominantly in the distal portions of the extremities.

• The Journal of Pediatrics of Korean Medicine
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• v.28 no.3
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• pp.74-84
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• 2014

Objectives The purpose of this study is to report the measurement results of Duchenne Muscular Dystrophy (DMD) in Patient Using Sensitiv $Imago^{TM}$ (SI) and Ryodoraku. Methods We conducted SI test and Ryodoraku test to a 7-year-old DMD patient who visited to Oriental pediatrics, Kyung Hee Medical Center. Results We obtained SI and Ryodoraku test results from a DMD patient. Conclusions Further study with more samples is necessary to establish accuracy of SI in clinical use.

• The Journal of Korea CHUNA Manual Medicine
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• v.6 no.1
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• pp.177-187
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• 2005

Objective : We want to investigate the patient who has a muscular dystrophy how much muscular strength is improved and general conditions are changed after applying Sa-am acupuncture. Method : The patient who has a muscular dystrophy was evaluated by AchR-ab, VAS, pulling power test after applying Sa-am acupuncture.

• Annals of Clinical Neurophysiology
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• v.14 no.2
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• pp.53-58
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• 2012

For the last decades, molecular genetics has achieved great advances that the genes on the list of inherited muscle diseases are piling up. Those diseases of overlapping clinico-pathologic findings are now understood with discrete molecular pathogeneses. We are facing an exciting era that the long-waited gene therapy may eventually come true. Skipping of dystrophin exon 51 is on successful clinical trials, which will benefit about 13% of the children suffering from Duchenne muscular dystrophy. Exon skipping is under active investigation to expand the candidates. Hopefully it may cover majority of Duchenne muscular dystrophy mutations and some of other diseases. Adeno-associated virus is one of the most versatile tools for gene transfer. It may overcome the limitation of exon skipping. Here we review exon skipping technique of Duchenne muscular dystrophy and briefly discuss the other strategies being studied to cure inherited muscle diseases.

• Annals of Clinical Neurophysiology
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• v.6 no.2
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• pp.65-74
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• 2004

Limb-girdle muscular dystrophy (LGMD) is a heterogeneous group of inherited muscle disorders caused by the mutations of different genes encoding muscle proteins. In the past, when the molecular diagnostic techniques were not available, the subtypes of muscular dystrophies were classified by the pattern of muscle weakness and the mode of inheritance, and LGMD had been considered as a 'waste basket' of muscular dystrophy because many unrelated heterogeneous cases with 'limb-girdle' weakness were put into the category of LGMD. With the advent of molecular genetics at the end of the last century, it has been known that there are many subtypes of LGMD caused by the mutation of different genes, and now, LGMD is classified according to the results of the linkage analysis and the genes or proteins affected. Only small proportion (probably less than 10%) of LGMD is dominantly inherited, and autosomal dominant LGMD (AD-LGMD) consists of six subtypes (LGMD1A to 1F) so far. In autosomal recessive LGMD (AR-LGMD), more than 10 subtypes (LGMD2A to 2J) have been linked and most of the causative genes have been identified. Among AR-LGMDs, LGMD2A (calpain 3 deficiency), 2B (dysferlin deficiency), and sarcoglycanopathy (LGMD2C-2F) are major subtypes. The defective proteins in LGMDs are components of nuclear envelope, cytosol, sarcomere, or sarcolemma, and seem to play a different role in the pathogenesis of muscular dystrophy. It is notable that many causative genes of LGMDs are also responsible for other categories of muscular dystrophy or diseases affecting other tissue. However, by which mechanism they produce such a broad phenotypic variability is still unknown. The identification of mutation in the relevant gene is confirmative for the diagnosis, and is essential for genetic counseling and antenatal diagnosis of LGMD. Because many different genes are responsible for LGMD, differentiation of subtypes using immunohistochemistry and western blotting is the essential step toward the detection of mutation. For the effective research and medical care of the patients with muscular dystrophy in Korea, a research center with a medical facility supported by the government seems to be needed.

• Journal of Acupuncture Research
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• v.22 no.6
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• pp.241-249
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• 2005

Objectives : The purpose of this case is to report the improvement after treatment about patient with Reflex sympathetic dystrophy syndrome. Methods : We treated the patient with acupuncture therapy and Herbal medication from 12th October 2004 to 20th June 2005 by evaluating shoulder function with VAS score, shoulder joint ROM and mannual muscle test(MMT). Results : After treatment, this patient achieved excellent outcome following the technique, showing that clinical symptom as like pain, swelling, paresthesia, color tone change was almost disappeared, and there was improvement of ROM and MMT Conclusion : Reflex Sympathetic Dystrophy Syndrome (RSDS) also known as Complex Regional Pain Syndrome (CRPS) is a chronic neurological syndrome characterized by severe burning pain, pathological changes in bone and skin, excessive sweating, tissue swelling, extreme sensitivity to touch. Oriental medical treatment for Reflex Sympathetic Dystrophy Syndrome resulted in satisfactory results by diminishing the symptoms progressively during the thirty two weeks of treatment. Differential diagnosis was based on careful physical examination. More research of Reflex Sympathetic Dystrophy Syndrome is needed.

• Fashion & Textile Research Journal
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• v.7 no.4
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• pp.419-425
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• 2005

The purpose of this study is to analyze the physical characteristic by directly measuring the wheelchair using disabled women. The subjects were 103 disabled women of wheelchair used women and between 20 - 55 years of age. The result of this study is as follow. There was a remarkable difference in the physical characteristic of wheelchair using disabled women due to their cause of disability. The cause of disability was classified into the 4 groups; poliomyelitis, spiral cord injury, muscular dystrophy, cerebral palsy. Poliomyelitis disability generally had a large horizontal area due to their strong upper body. People with spiral cord injury disability was shown to have the largest height, cervical height, waist back length, crotch length, knee length, The group of muscular dystrophy disabled people have the shortest length of body and also lean. The cebral palsy group of disabled people has an average length and height size body. A comparison of anthropometric measurements of wheelchair using disabled women with National Anthropometric Survey Korea(1997) was significant difference. People with poliomyelitis disability was shown to have a larger waist back length, neck point to breast point compared to normal women, but stature, crotch length was shorter compared to normal women. People with spiral cord injury disability had a similar in the vertical area. The group of muscular dystrophy and cebral palsy disabled people was short and smaller in general compared to a normal woman.