• Clinical and Experimental Pediatrics
• /
• 제60권6호
• /
• pp.196-201
• /
• 2017

Purpose: Myocardial dysfunction and dysrhythmias are inevitable consequences of Duchenne muscular dystrophy. We aimed to evaluate specific trends of electrocardiographic changes that reflect the progress of cardiomyopathy in patients with Duchenne muscular dystrophy. Methods: Fifty electrocardiograms (ECGs) of 30 patients (ages 1 to 27 years) who had not been prescribed medications for heart failure treatment at the time of examination were retrospectively analyzed and compared with 116 ECGs of age-matched healthy 116 controls. Heart rate, leads with fragmented QRS (fQRS), corrected QT, Tpeak-to-Tend, and Tpeak-to-Tend/QT were analyzed. Results: The patients with Duchenne muscular dystrophy failed to show a normal age-related decline in heart rate but showed an increasing trend in the prevalence of fQRS, corrected QT, corrected Tpeakto-Tend, and Tpeak-to-Tend/QT over time. In the ${\leq}10-year-old$ patient group, a significant difference was found only in the prevalence of fQRS between the patients and the controls. The prevalence of fQRS, heart rate, Tpeak-to-Tend/QT, and corrected Tpeak-to-Tend demonstrated significant differences between the patients and the controls in the middle age group (11 to 15 years old). All the indexes were statistically significantly different in the ${\geq}16-year-old$ patient group. Conclusion: The prevalence of lead with fQRS representing regional wall motion abnormalities was higher in the young patients than in the young healthy controls, and this might be one of the first signs of myocardial change in the patients. Markers of depolarization and repolarization abnormalities were gradually prominent in the patients aged >10 years. Further studies are needed to confirm these findings.

• Annals of Clinical Neurophysiology
• /
• 제22권1호
• /
• pp.29-32
• /
• 2020

Sarcoglycanopathies are a rare group of autosomal recessive limb-girdle muscular dystrophies (LGMDs) caused by genetic variants in α-, β-, γ-, or δ-sarcoglycan that maintain membrane integrity and contribute to molecular signal processing. High-throughput nucleotide sequencing was performed in patients with slowly progressive proximal muscle weakness from early childhood with respiratory involvement, which detected a novel homozygous nonsense variant (c.601C>T;p.Gln201Ter) in SGCB. This report informs about the clinical characteristics of LGMD2E (type-2E LGMD) in Korea and provides genetic confirmation of the disease.

• Annals of Clinical Neurophysiology
• /
• 제22권2호
• /
• pp.51-60
• /
• 2020

Muscle pathology findings may guide the diagnosis of neuromuscular disorders since they are helpful for understanding the pathological processes causing muscle weakness and also provide significant clues for the diagnosis of muscle diseases. Recent advances in molecular genetics mean that a muscle biopsy can be omitted when diagnosing inherited muscle diseases. However, the muscle pathology can still play a role in those cases and its findings are also required when diagnosing inflammatory myopathies.

• The Korean Journal of Physiology and Pharmacology
• /
• 제9권1호
• /
• pp.1-8
• /
• 2005

Myotonic Dystrophies type 1 and 2 (DM1/2) are neuromuscular disorders which belong to a group of genetic diseases caused by unstable CTG triplet repeat (DM1) and CCTG tetranucleotide repeat (DM2) expansions. In DM1, CTG repeats are located within the 3' untranslated region of myotonin protein kinase (DMPK) gene on chromosome 19q. DM2 is caused by expansion of CCTG repeats located in the first intron of a gene coding for zinc finger factor 9 on chromosome 3q. The CTG and CCTG expansions are located in untranslated regions and are expressed as pre-mRNAs in nuclei (DM1 and DM2) and as mRNA in cytoplasm (DM1). Investigations of molecular alterations in DM1 discovered a new molecular mechanism responsible for this disease. Expansion of un-translated CUG repeats in the mutant DMPK mRNA disrupts biological functions of two CUG-binding proteins, CUGBP and MNBL. These proteins regulate translation and splicing of mRNAs coding for proteins which play a key role in skeletal muscle function. Expansion of CUG repeats alters these two stages of RNA metabolism in DM1 by titrating CUGBP1 and MNBL into mutant DMPK mRNA-protein complexes. Mouse models, in which levels of CUGBP1 and MNBL were modulated to mimic DM1, showed several symptoms of DM1 disease including muscular dystrophy, cataracts and myotonia. Mis-regulated levels of CUGBP1 in newborn mice cause a delay of muscle development mimicking muscle symptoms of congenital form of DM1 disease. Since expansion of CCTG repeats in DM2 is also located in untranslated region, it is predicted that DM2 mechanisms might be similar to those observed in DM1. However, differences in clinical phenotypes of DM1 and DM2 suggest some specific features in molecular pathways in both diseases. Recent publications suggest that number of pathways affected by RNA CUG and CCUG repeats could be larger than initially thought. Detailed studies of these pathways will help in developing therapy for patients affected with DM1 and DM2.

• Journal of Animal Science and Technology
• /
• 제58권5호
• /
• pp.18.1-18.10
• /
• 2016

Muscle, studied mostly with respect to meat production, represents one of the largest protein reservoirs of the body. As gene expression profiling holds credibility to deal with the increasing demand of food from animal sources, excessive loss due to myopathies and other muscular dystrophies was found detrimental as it aggravates diseases that result in increased morbidity and mortality. Holding key point towards improving the developmental program of muscle in meat producing animals, elucidating the underlying mechanisms of the associated pathways in livestock animals is believed to open up new avenues towards enhancing the lean tissue deposition. To this end, identification of vital candidate genes having no known function in myogenesis, is believed to increase the current understanding of the physiological processes going on in the skeletal muscle tissue. Taking consequences of gene expression changes into account, knowledge of the pathways associated with their activation and as such up-regulation seems critical for the overall muscle homeostasis. Having important implications on livestock production, a thorough understanding of postnatal muscle development seems a timely step to fulfil the growing need of ever increasing populations of the world.

• 대한근전도전기진단의학회지
• /
• 제20권2호
• /
• pp.148-152
• /
• 2018

Myotonic dystrophy type 1 (DM1) is an autosomal dominant multisystem disorder and one of the most common muscular dystrophies affecting adults. Charcot-Marie-Tooth (CMT) disease, a common hereditary neuropathy, is characterized by atrophy of the distal limbs and peripheral nerve abnormalities. The authors report a rare case involving a 24-year-old female who was diagnosed simultaneously with both DM1 and CMT1A based on the results of a nerve conduction study (NCS). The patient, who had previously been diagnosed with DM1, was admitted for lower extremity pain. Her electrodiagnostic examination continued to reveal severe sensorimotor demyelinating polyneuropathy, and a genetic study was performed to confirm whether she had other hereditary neuropathies, except DM1, that suggested CMT1A, the most common phenotype of CMT. Severe abnormalities in an NCS in a DM1 patient may suggest the incidental coexistence of hereditary neuropathies, and further evaluations, such as genetic studies, should be performed for proper diagnosis.

• 가정간호학회지
• /
• 제24권2호
• /
• pp.210-220
• /
• 2017

Purpose: The study aimed to describe the utilization of home healthcare in patients using home mechanical ventilator(HMV) Method: A descriptive cross-sectional design was used in this study. A Questionnaires were sent to nation wide home healthcare agencies to assess their utilization status of home healthcare. A convenience sample of 158 patients data was reviewed. Result: A total of 88(55.7%) men with the mean age of 51.94(${\pm}19.52$) years were included in the study. Approximately 55.1% of patients at the outpatient department were referred to the home healthcare services after discharge. The underlying diseases were as follows : 129 amyotrophic lateral sclerosis and 27 muscular dystrophies. A total of 155 patients have invasive HMV. Efficient home healthcare nursing activities provided by a highly skilled home healthcare advanced practice nurses(HHCAPN) were tracheotomy and gastrostomy tube management and urinary catheterization. The average frequency of home visit for one patient was 2.52times per month. The duration of home healthcare utilization with >1 year was 82.9%. HHCAPNs have limited knowledge and skill for HMV. Conclusion: The government support is required to provide sufficient home healthcare services to the patients discharged with HMV. HHCAPNs should be properly educated on the effective HMV care.

• 대한유전성대사질환학회지
• /
• 제17권2호
• /
• pp.48-54
• /
• 2017

목적: Fukuyama 선천성 근이영양증은 희귀한 열성 유전질환으로 영아 시기에 발병하는 근긴장 저하, 뇌 기형 및 dystroglycanopathy 특징들을 보인다. 선천성 근육병의 넓은 스펙트럼에 여러 질환들이 존재하여 Fukuyama 선천성 근이영양증 진단을 어렵게 하지만, 유전형과 표현형 상관관계를 파악하면 진단을 도울 수 있다. 이 연구에서는 분자유전학 분석을 통해 선정한 FKTN 유전자와 Fukuyama 선천성 근이영증의 표현형의 연관성에 대해 알아보았다. 방법: 이 연구는 후향적으로 9명의 대상자들로 진행하였다. 영아 시기에 발병하는 근긴장 저하의 증상 및 뇌 자기공명영상에서 기형 소견을 보인 환자들을 대상으로 선정하였다. 그리고 FKTN 유전자를 이용한 염기서열 검사를 통해 유전자를 분석하였다. 결과: 9명의 대상자들 중 남성이 4명(44.4%), 여성이 5명(55.5%) 였다. 첫 증상이 발병한 나이의 중간값은 3.1개월였다. 6명(66.7%) 에서 첫 증상이 발달지연으로 나타났다. 모든 환자들은 영아 시기에 근긴장 저하 및 전반적 발달 지연 소견을 보였다. 또한, 모든 환자들은 뇌 자기공명영상에서 뇌 피질 기형 소견을 보였다. 9명의 환자들 중 6명이 근육생검 검사를 실시하였고 그 중 4명(4/6; 66.7%)이 특이 소견을 보였다. Fukuyama 선천성 근이영양증을 일으키는 FKTN 유전자 돌연변이는 3명에서 발견되었다. 결론: 이 연구에서 FKTN 유전자 변이를 보인 3명의 대상자들은 모두 뇌 자기공명영상에서 큰뇌이랑증 및 소뇌 형성장애 소견들을 보였다. 이것을 통해 근육병 증상을 보이면서 뇌 자기공명영상에서 특징적인 소견들을 보일 시 Fukuyama 선천성 근이영양증을 진단할 가능성을 높일 수 있다는 것을 확인하였다.