1.A Case of Atypical Polymyositis Diagnosed as Muscular Dystrophy on Muscle Biopsy.
Yun Joon KIM ; Tae Young CHO ; Il Nam SUNWOO ; Tae Seung KIM ; Sang Ahm LEE
Journal of the Korean Neurological Association 1992;10(4):566-569
Though the polymyositis, one of the common adult-onset myopathy, is treatable, the diverse clinical manifestation and course sometimes lead the clinician to incorrect diagnosis. Here we report a case of polymyositis, presented with atypical features and diagnosed as muscular dystrophy on muscle biopsy previously, but showed marked clinical improvement after combined treatment with prednisolone and methotrexate.
Biopsy*
;
Diagnosis
;
Methotrexate
;
Muscular Diseases
;
Muscular Dystrophies*
;
Polymyositis*
;
Prednisolone
2.Relationship between the Serum CPK and the Shoulder Muscle Disorder in VDT Workers.
Soo Keun KIM ; Hae Kwan CHEONG
Korean Journal of Occupational and Environmental Medicine 1998;10(2):172-179
VDT workers are often exposed to static load in the shoulder stabilizing muscle due to repetitive work over long periods. Many investigations were reported the relationships between static load due to repetitive work and regional muscle disorder. However, diagnostic approach to work-related muscle disorder is difficult due to the absence of objective diagnostic tools. This study was performed to investigate the relationship between the serum CPK (creatine phosphokinase) concentrations and the shoulder muscle disorders. Results are as follow. 1. Mean serum CPK in total VDT workers was 67.6+/-28.4 IU/l and workers with abnormal serum CPK were 35 (21.5%). 2. Comparison between cases and controls did not show significant difference in the serum CPK level and the distribution of abnormal findings. 3. Sensitivity and specificity of the CPK test was 23.0% and 82.0%, respectively. Above results, in accordance with literatures, show that while serum CPK measure menu can be useful for the diagnosis of acute muscle injury, it does not adequately reflect the muscle disorders developed by the repetitive work of low tension over long time, such as VDT works.
Diagnosis
;
Muscular Diseases*
;
Sensitivity and Specificity
;
Shoulder*
3.A Study of Standards and Norms Used for Electrodiagnosis in Korea.
Hae Won MOON ; Ueon Woo RAH ; Il Young LEE ; Hyoung Seok OH
Journal of the Korean Academy of Rehabilitation Medicine 1997;21(2):323-329
In clinical settings, electrodiagnosis is used for the differential diagnosis of neuropathy and myopathy, as well as detremining severity and localization of lesions in the neuromuscular system. By many authors, various methods of the study and factors influencing the results were verified so far. However, the results vary according to methods or influencing factors during electrodiagnostic studies. Since there has been no standardization in methods of the study and study environment, we sometimes feel difficulties in interpretation of study results and in exchage of findings of study among laboratories. In this study, we have collected standards and norms used by different electrodiagnostic laboratories in Korea, hoping that we can come up with one nationwide standards and norms in Korea.
Diagnosis, Differential
;
Electrodiagnosis*
;
Hope
;
Korea*
;
Muscular Diseases
4.A Family of Bethlem Myopathy Caused by a Heterozygous COL6A1 Mutation
Young Eun PARK ; Hwan Jun SON ; Chang Hoon LEE ; Jin Hong SHIN ; Dae Seong KIM
Journal of the Korean Neurological Association 2018;36(3):215-219
Collagen-VI-related myopathies are caused by mutations in the COL6A1, COL6A2, and COL6A3 and are known to have a wide phenotypic spectrum, including Bethlem myopathy, Ullrich congenital muscular dystrophy, intermediate phenotype, and limb-girdle muscular dystrophy. These patients present with joint hyperextensibility and/or contractures as well as skin changes and muscle weakness, and so clinicians need to notice those extramuscular symptoms in order to achieve a correct diagnosis. We describe the clinical, pathological, and radiological features in a family with Bethlem myopathy caused by a COL6A1 mutation.
Contracture
;
Diagnosis
;
Humans
;
Joints
;
Muscle Weakness
;
Muscular Diseases
;
Muscular Dystrophies
;
Muscular Dystrophies, Limb-Girdle
;
Phenotype
;
Skin
5.Ultrasound Findings in Duchenne Muscular Dystrophy Disease.
Young Moo NA ; Ki Jung BAE ; Seong Woong KANG ; Min Young KIM ; Byung Chul KANG
Journal of the Korean Academy of Rehabilitation Medicine 1997;21(3):572-578
The real-time ultrasonography is a simple, noninvasive procedure that is most suitable for application in pediatric practice. The ultrasonographic appearance of various disorders in children such as progressive muscular dystrophies, infantile spinal muscular atrophy, congenital myopathies, and motor neuropathies has been found to be strikingly abnormal. We have done a pilot study using real-time ultrasonography in children with Duchenne muscular dystrophy in an attempt to correlate their clinicopathologic profiles with scan findings. Echogenicity and delineation of fascia at midthigh and midcalf muscle were measured using a real-time linear array ultrasound scanner in 12 Duchenne mucular dystrophy patients attending our Muscle Clinic, as a double-blind pilot study matched against 10 controls. The ultrasonic scan findings in normal children revealed no echogenicity of muscle, distinct echogenicity of bone and delineation of fascia. But all Duchenne muscular dystrophy patients had increased echogenicity of muscle and decreased echogenicity of bone, and some patients had interruption of delineation of fascia. Duchenne muscular dystrophy patients who were unable to raise from standard height chair showed higher grade of echogenicity at midthigh level than the patients who were able to raise from standard height chair. But this result was not applicable at midcalf level. We concluded that the real-time ultrasonography was useful diagnosis method in Duchenne muscular dystrophy. In addition, when the real-time B ultrasonography was applied to midthigh level, the ultrasonic scan findings could reflect indirectly the functional ability of Duchenne muscular dystrophy patients.
Child
;
Diagnosis
;
Fascia
;
Humans
;
Muscular Diseases
;
Muscular Dystrophies
;
Muscular Dystrophy, Duchenne*
;
Pilot Projects
;
Spinal Muscular Atrophies of Childhood
;
Ultrasonics
;
Ultrasonography*
6.Molecular Genetic Diagnosis of a Bethlem Myopathy Family with an Autosomal-Dominant COL6A1 Mutation, as Evidenced by Exome Sequencing.
Hyung Jun PARK ; Young Chul CHOI ; Seung Min KIM ; Se Hoon KIM ; Young Bin HONG ; Bo Ram YOON ; Ki Wha CHUNG ; Byung Ok CHOI
Journal of Clinical Neurology 2015;11(2):183-187
BACKGROUND: We describe herein the application of whole exome sequencing (WES) for the molecular genetic diagnosis of a large Korean family with dominantly inherited myopathy. CASE REPORT: The affected individuals presented with slowly progressive proximal weakness and ankle contracture. They were initially diagnosed with limb-girdle muscular dystrophy (LGMD) based on clinical and pathologic features. However, WES and subsequent capillary sequencing identified a pathogenic splicing-site mutation (c.1056+1G>A) in COL6A1, which was previously reported to be an underlying cause of Bethlem myopathy. After identification of the genetic cause of the disease, careful neurologic examination revealed subtle contracture of the interphalangeal joint in the affected members, which is a characteristic sign of Bethlem myopathy. Therefore, we revised the original diagnosis from LGMD to Bethlem myopathy. CONCLUSIONS: This is the first report of identification of COL6A1-mediated Bethlem myopathy in Korea, and indicates the utility of WES for the diagnosis of muscular dystrophy.
Ankle
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Capillaries
;
Contracture
;
Diagnosis*
;
Exome*
;
Humans
;
Joints
;
Korea
;
Molecular Biology*
;
Muscular Diseases*
;
Muscular Dystrophies
;
Muscular Dystrophies, Limb-Girdle
;
Neurologic Examination
7.Diagnostic Significance of Immunohistochemical Staining in Muscular Dystrophy.
Journal of the Korean Neurological Association 2006;24(1):1-13
Muscular dystrophy (MD) is a heterogeneous group of inherited muscle disorders caused by the mutations of different genes encoding muscle proteins, and it is now classified according to the results of the linkage analysis and the genes or proteins affected. Except for some subtypes of MD presenting with characteristic manifestations, differential diagnosis is always a challenging task to clinicians because of the similarities in clinical features and muscle pathology findings between subtypes. The immunohistochemical stain (IHC) using a biopsied skeletal muscle is an effective and simplest way to identify defective proteins in MD, so that we can classify MD into its subtypes and target the affected gene. The frozen muscle sections are used for the IHC, and specialized procedures of fixation, blocking, antibody reaction, and detection are serially performed. By using sets of commercially available antibodies, we can identify many different subtypes of MD, which include dystrophinopathies, several forms of limb-girdle muscular dystrophies, and subgroups of congenital muscular dystrophies. Although each disease shows its own characteristic patterns on IHC, there are some exceptional cases including normal expression of the mutated protein and secondary loss of the unaffected protein. Since the quality of the IHC results largely depends on technique and experience, the choice of antibody panel for IHC should be individualized in each laboratory considering the number of muscle biopsy requests, available technicians, and expenses for the study.
Antibodies
;
Biopsy
;
Diagnosis, Differential
;
Immunohistochemistry
;
Muscle Proteins
;
Muscle, Skeletal
;
Muscular Diseases
;
Muscular Dystrophies*
;
Muscular Dystrophies, Limb-Girdle
;
Pathology
8.Clinical, Pathologic, and Genetic Features of Collagen VI-Related Myopathy in Korea.
Jung Hwan LEE ; Ha Young SHIN ; Hyung Jun PARK ; Se Hoon KIM ; Seung Min KIM ; Young Chul CHOI
Journal of Clinical Neurology 2017;13(4):331-339
BACKGROUND AND PURPOSE: Mutations in collagen VI-related genes (COL6A1, COL6A2, and COL6A3) cause Bethlem myopathy (BM) and Ullrich congenital muscular dystrophy (UCMD). These were previously believed to be separate disease entities, but they are now both classified as collagen VI-related myopathies, which cover a broad clinical spectrum. We aimed to analyze the clinical, pathologic, and genetic characteristics of patients with collagen VI-related myopathy in Korea. METHODS: We reviewed the clinical, pathologic, and genetic features in 22 patients with collagen VI-related myopathy from 13 families, as confirmed by genetic analysis of collagen VI-related genes. RESULTS: The mean ages of the 22 patients at first symptom presentation and diagnosis were 4.5 and 24.9 years, respectively. Four patients in 4 families showed the phenotype of intermediate collagen VI-related myopathies (IM), 16 patients in 7 families had the BM phenotype, and 2 patients in 2 families presented with the typical UCMD phenotype. Based on genetic analysis, five patients (five families) comprising four with IM and one with typical UCMD had missense mutations in the triple-helical domain of COL6A1, and ten patients (four families) with BM showed exon-14-skipping mutations. Additionally, we found two novel mutations: c.956A>G (p.K319R) in COL6A1 and c.6221G>T (p.G2074V) in COL6A3. CONCLUSIONS: Missense mutations in the triple-helical domain of COL6A1 are the most common mutations related to collagen VI-related myopathy in Korea. Patients with these mutations have a tendency toward an earlier disease onset and more severe progression compared to patients with other mutations.
Collagen*
;
Diagnosis
;
Genetic Testing
;
Humans
;
Korea*
;
Muscular Diseases*
;
Muscular Dystrophies
;
Mutation, Missense
;
Phenotype
9.Ultrasonography in Neuromuscular Disorder.
Jae Hong CHANG ; Jae Kook YOO ; Byung Jo KIM
Journal of the Korean Neurological Association 2011;29(2):73-80
High-resolution (HR) ultrasound, which has been progressing continuously in technology, has improved in aspect of spatial and contrast resolution. The HR ultrasonography is a noninvasive, readily applicable imaging technique, which could get static and dynamic image in real-time for various neuromuscular disorders, especially in entrapment neuropathy. It is also a reliable tool to detect dynamic muscle movements such as fasciculation as well as muscle atrophy in chronic myopathies or neuropathies. Although reliability of the HR ultrasonography has not been investigated in large series of patients, different neuromuscular disorders tend to show specific changes on the ultrasound, which can be helpful in differential diagnosis. The HR ultrasonography is an ideal tool for the clinical and research investigation of neuromuscular system complementary to electrodiagnostic studies. This review briefly describes applicability for various neuromuscular disorders with previous study results and the technical aspects of ultrasound and its physical principles.
Diagnosis, Differential
;
Fasciculation
;
Humans
;
Muscles
;
Muscular Atrophy
;
Muscular Diseases
;
Nerve Compression Syndromes
10.Density of Orbital Fat and Extraocular Muscle in Thyroid-Associated Myopathy and Idiopathic Orbital Myositis.
Hye Mi CHEONG ; Woo Jin JEONG ; Hee Bae AHN
Journal of the Korean Ophthalmological Society 2013;54(11):1641-1648
PURPOSE: To perform and compare differential diagnosis of patients with thyroid-associated myopathy, idiopathic orbital myositis and normal controls based on orbital computed tomography. Orbital fat and extraocular muscle densities were quantified using Hounsfield Unit (HU) and their characteristics were compared and analyzed. METHODS: From February 2005 to January 2013, orbital computed tomography was performed on 90 eyes of 47 thyroid-associated myopathy patients, 18 eyes of 14 idiopathic orbital myositis patients and 280 eyes of 140 normal subjects. The average values of orbital fat and extraocular muscle densities were measured and compared using HU. The density differences between the patients with thyroid-associated myopathy and the normal group were analyzed by age, clinical activity score, ocular protrusion and disease duration. RESULTS: In the thyroid-associated myopathy group, orbital fat and extraocular muscle densities were -87.8 +/- 12.5 HU and 48.7 +/- 7.1 HU, respectively. In the idiopathic orbital myositis group, the orbital fat and extraocular muscle densities were 79.9 +/- 9.9 HU and 49.2 +/- 9.1 HU, respectively. There was a statistically significant lower result of orbital fat in the thyroid-associated myopathy group (p = 0.002), however, the extraocular muscle density did not show a statistically significant difference (p = 0.775). The orbital fat and extraocular muscle densities of the normal group were -79.0 +/- 11.2 HU and 54.3 +/- 6.3 HU, respectively. There were significantly lower results in both orbital fat and extraocular muscle densities in the thyroid-associated myopathy group than normal group (p = 0.000). In active cases and those accompanied by ocular protrusion, there was no significant difference in orbital fat density (p = 0.345 and p = 0.952, respectively), while extraocular muscle density significantly decreased (p = 0.007 and p = 0.003, respectively). CONCLUSIONS: A difference between the orbital fat and extraocular muscle densities in thyroid-associated myopathy and idiopathic orbital myositis could be quantitatively found using HU and orbital computed tomography.
Diagnosis, Differential
;
Humans
;
Muscles*
;
Muscular Diseases*
;
Orbit*
;
Orbital Myositis*