• Annals of Clinical Neurophysiology
• /
• 제20권2호
• /
• pp.66-70
• /
• 2018

Electrodiagnostic studies such as nerve conduction studies (NCS) and needle electromyography (EMG) provide important and complementary information for evaluating patients with suspected neuromuscular disorders. NCS and needle EMG are reasonably safe diagnostic investigations and are generally associated with only mild transient discomfort when performed by experienced physicians. However, there is the risk of complications in some patients, because NCS involve the administration of electric current and EMG involves inserting a needle percutaneously into muscle tissue. This article reviews the potential risks of NCS and needle EMG.

• The Journal of Korean Physical Therapy
• /
• 제12권1호
• /
• pp.163-172
• /
• 2000

The purpose of this study was to provide experimental evidence and theoretical background for the applicability of bilateral transfer paradigm to the rehabilitation programs for children with hemiplegic cerebral palsy. Children with hemiplegia, which means unilateral motor disabilities, display abnormal motor and postural patterns of the affected side due to hemiparesis, spasticity, and sensory disorders, resulting in a decreased motor abilities of the affected side compared to unaffected side. Accordingly, they tend to rely on the unaffected limb for everyday activities, which further deteriorates the functions of the affected side by causing associated reaction, abnormal postural patterns, and hypertonus. Rehabilitation programs developed for children with hemiplegic cerebral palsy include neurodevelopmental treatment, application of cast or splint to unaffected limb, neuromuscular electrical stimulation, and task oriented model. These programs, however, have several drawbacks, such as discontinuity in treatment effect and psychological hatred to the force use of the affected side. In order to solve these problems and enhance the efficiency of the rehabilitation programs, it is required to maximize the use of the affected side without hatred. Characteristics of the control system, such as temporal coupling and spatial assimilation between limbs and neural crosstalk at different levels of central motor pathway, suggest that the bilateral transfer paradigm may enhance the efficiency of the rehabilitation programs for children with hemiplegic cerebral palsy.

• 대한의용생체공학회:의공학회지
• /
• 제17권3호
• /
• pp.319-326
• /
• 1996

Clinical myography(EMG) is a technique for diagnosing neuromuscular disorders by analyzing the electrical signal that can be records by needle electrode during a muscular contraction. The EMG signal arises from electrical discharges that accompany the generation of force by groups of muscular fiber, and the analysis of EMG signal provides symptoms that can distinguish disorder of mLecle from disor- ders of nerve. One of the methods for analysis of EMG signal is to separate the individual discharge-the motor unit action potentials(MVAPS) - from EMG signal. But we can only observe the EMG signal that is a superimposed version of time delayed MUAPS. To obtain the information about MUAP(, i.e., position, firing number, magnitude etc), first of all, a method that can separate each MUAP from the EMG signal must be developed Although the methods for MUAP separation have been proposed by many researcherl they have required heavy computational burden. In this paper, we proposed a new method that has less computational burden and performs more reliable separation of superimposed EMG signal using wavelet filter which has multiresolution analysis as major property. As a result, we develope the separation algorithm of superimposed EMG signal which has less computational burden than any other researchers and exacutes exact separation process. The performance of this method has been discussed in the automatic resolving procedure which is neccessary to identify every firing of every motor unit from the EMG pattern.

• Neonatal Medicine
• /
• 제28권2호
• /
• pp.89-93
• /
• 2021

Nemaline myopathy is a genetically heterogeneous neuromuscular disorder and one of the most common congenital myopathies. The clinical manifestations usually vary depending on the age of onset. Neonatal nemaline myopathy has the worst prognosis, primarily due to respiratory failure. Several genes associated with nemaline myopathy have been identified, including NEB, ACTA1, TPM3, TPM2, TNNT1, CFL2, KBTBD13, KLHL40, KLHL41, LMOD3, and KBTBD13. Here, we report a neonatal Korean female patient with nemaline myopathy carrying compound heterozygous mutations in the gene KLHL40 as revealed using next generation sequencing (NGS). The patient presented with postnatal cyanosis, respiratory failure, dysphagia, and hypotonia just after birth. To identify the genetic cause underlying the neonatal myopathy, NGS-based gene panel sequencing was performed. Compound heterozygous pathogenic variants were detected in KLHL40: c.[1405G>T];[1582G>A] (p. [Gly469cys];[Glu528Lys]). NGS allows quick and accurate diagnosis at a lower cost compared to traditional serial single gene sequencing, which is greatly advantageous in genetically heterogeneous disorders such as myopathies. Rapid diagnosis will facilitate efficient and timely genetic counseling, prediction of disease prognosis, and establishment of treatments.

• 대한근전도전기진단의학회지
• /
• 제20권2호
• /
• pp.124-129
• /
• 2018

Neuralgic amyotrophy (NA) is an idiopathic disease characterized by muscular atrophy accompanied by neuralgia, where acute pain in the limb, mostly including the shoulders, leads to muscle weakeness and atrophy in the limb days to weeks after the onset of pain. Although its exact pathogenesis is unknown, genetic and nongenetic factors, such as infection, surgery, and trauma are suspected contributors. We report this case as we diagnosed NA of the right lower limb via enhanced MRI as well as EMG and have followed up the patient's prognosis and radiologic changes for one and a half years. In addition, the patient had been diagnosed with neuropsychiatric disorders, such as major depressive disorder and somatic symptom disorder.

• The Journal of Korean Physical Therapy
• /
• 제20권3호
• /
• pp.35-43
• /
• 2008

Purpose: We investigated the effect of isometric resistance exercise on the vastus medialis oblique muscle with inelastic tape and EMG biofeedback training applied to the patello-femoral joints of patients with patella malalignment. Methods: The 39 elderly subjects that had patella malalignment but no neuromuscular disorders were divided into a control group, taping group, and EMG biofeedback training group. Evaluations of function improvement performed before and after the treatment, as well as 4 weeks after treatment. Results: Change in pain in the knee joint were significantly different among groups (p<0.05). Maximum voluntary isometric contractility in the quadriceps muscle was significantly in the EMG biofeedback group (p<0.001). The WOMAC (Western Ontairo & McMaster Questionnaire) index showed a significant change (p<0.05) in pain, function, and total score. Taping and EMG biofeedback training showed a lasting effect until measurement 4 weeks after treatment. SF-36 (Medical outcome short form-36), which assesses the quality of life, did not significantly change. Conclusion: In osteoarthritis patients with a loss of patello-femoral joint function, isometric resistance exercise of the vastus medialis oblique muscle with taping seems effective.

• Journal of Genetic Medicine
• /
• 제2권1호
• /
• pp.35-39
• /
• 1998

Duchenne/Becker muscular dystrophy are the major neuromuscular disorders with X-linked recessive inheritance. Preimplantation diagnosis of sex determination has been generally used to avoid male pregnancies with these diseases. However, in order to determine if the embryo is normal, carrier or affected regardless of the sex, there is a need for a combined analysis of specific exon on dystrophin gene as well as sex determination of embryo using the same biopsied blastomere. If the exon deletion is not determinable, further diagnosis of carrier or patient can be performed by haplotype analysis. In this study, we applied the primer extension preamplification (PEP) method, which amplifies the whole genome, in 40 cases of single amniocyte and 40 cases of chorionic villus cell. We analysed haplotypes using two (CA)n dinucleotide polymorphic markers located at the end of 5' and 3' region of the dystrophin gene. Exon 46 of dystrophin gene and DYZ3 on chromosome Y were chosen as a target sequence for coamplification PCR. Upon optimizing the conditions, the amplification rates were 91.25% (73/80) for haplotypes (92.5% in amniocyte, 90% in chorionic villus cell) and 88.75% (71/80) for coamplification (85% in amniocyte, 92.5% in chorionic villus cell). The result of the study indicates that haplotypes analysis and coamplification of dystrophin and Y-specific gene using PEP can be applied to prenatal and preimplantation diagnosis in Duchenne/Becker muscular dystrophy making it possible to determine if the fetus is a carrier or an affected one.

• 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 Genetic Medicine
• /
• 제14권2호
• /
• pp.75-79
• /
• 2017

Duchenne and Becker muscular dystrophies (DMD and BMD, respectively) are X-linked neuromuscular disorders characterized by progressive muscle weakness and severe skeletal muscle degeneration. BMD is a milder form with a later onset. Patients with BMD tend to survive much longer than those with DMD. The differentiation between DMD and BMD is important in the genetic counseling of affected patients and their families. Since muscle biopsies are invasive procedures, the differential diagnosis of BMD and DMD is often dependent on the mutation identified in the DMD gene in affected patients. However, when a novel DMD mutation is identified, the differential diagnosis should be based on muscle biopsy findings with other clinical findings. Here we describe two Korean patients with BMD confirmed by muscle biopsy and genetic testing. Two novel exonic deletions in the DMD gene were identified.

• 대한물리의학회지
• /
• 제10권3호
• /
• pp.101-108
• /
• 2015

PURPOSE: This study researched the effects of the changes of elbow joint angle and of arm position in PNF pattern on muscle activation of the contralateral shoulder muscles while performing PNF pattern exercise. METHODS: The research subjects were 16 male physical therapists who had no neuromuscular or neurological disorders. To measure the muscle activation of the contralateral shoulder muscles, EMG electrodes were attached to the muscle valley of the middle and posterior areas of the deltoid and triceps muscles of the arm. Muscle activation while performing the ulnar thrust PNF pattern exercise was measured with the elbow joint positioned at angles of $30^{\circ}$, $45^{\circ}$, and $60^{\circ}$. Resistance points were at the initial, middle, and end ranges of PNF pattern exercise. RESULTS: Muscle activation of the middle and posterior portions of the deltoid muscle increased significantly according to the changes of elbow joint angle. In each resistance point the middle range was significantly higher than at other points. A significant difference on muscle activation was demonstrated throughout each range depending on the type of muscle. Muscle activation of the middle and posterior portions of the deltoid muscle was higher than muscle activation of the triceps. CONCLUSION: The results of this study demonstrate that the PNF pattern exercising method used in this study is a selective exercising method focusing on the deltoid muscle over the triceps muscle. In order to increase the muscle strength to the maximum level, it is necessary to provide the maximum level of resistance in the middle range of the elbow joint.