• Neonatal Medicine
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• v.28 no.2
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• pp.89-93
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• 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.

• Journal of Yeungnam Medical Science
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• v.28 no.2
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• pp.173-179
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• 2011

Polymyositis is diffuse, inflammatory myopathy with proximal-muscle weakness due to lymphocyte infiltration to the muscle layer. The exact cause of the muscle weakness is unclear but may be related with an immunologic mechanism. Using high-dose steroid is the treatment of choice for polymyositis. It is difficult to distinguish steroid-resistant polymyositis from steroid myopathy, however, in the course of high-dose steroid therapy. These authors encountered a steroid myopathy patient during polymyositis treatment with high-dose steroid. A 57-year-old woman was diagnosed with polymyositis and was treated with high-dose steroid. Her condition was initially improved, but in the course of the treatment, her symptom was aggravated without increasing the muscle enzymes. Her muscle weakness was improved by reducing the steroid dosage.

• The Journal of Churna Manual Medicine for Spine and Nerves
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• v.4 no.2
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• pp.149-161
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• 2009

Objective : The purpose of this study is to report the improvement after the acupuncture therapy and herbal medicine about a patient who has latrogenic Cushing with steroid induced myopathy and compression fracture of L-spine. Methods : We treated the patient with Neutral Blood Stasis herbal acupuncture, acupuncture therapy and herbal medication. Results : We have experienced one case of latrogenic Cushing syndrome with steroid induced myopathy and compression fracture of L-spine. This case improved significantly through acupuncture and herbal medication treatment. Conclusions : This study suggests manual acupuncture therapy and herbal medication is effective for the improvement of latrogenic Cushing syndrome with steroid induced myopathy and compression fracture of L-spine.

• Clinical Pain
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• v.18 no.1
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• pp.48-51
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• 2019

Symmetrical proximal weakness and characteristic dermatologic manifestations are important in the diagnosis of dermatomyositis. We report a case of atypical presentation of dermatomyositis due to previous steroid use and also report steroid-induced myopathy which may occur from steroid administration during the course of treatment. A 77-year-old man, previous steroid user, showed rapidly progressing weakness after abruptly stopped medication. He has presented erythematous papule on face and anterior chest but no heliotrope rash and Gottron's papules were observed. Muscle enzyme (creatine kinase) concentration is increased, and needle electromyography shows increased spontaneous activity on proximal limb muscle. The muscle biopsy confirmed dermatomyositis. During the course of treatment, he revealed persistent weakness despite the continuous steroid use and stable creatine kinase level. Electrodiagnostic study suggests steroid-induced myopathy and after tapering steroid, proximal muscle strength improved. This case reports the effect of steroid use on dermatomyositis patients and a process of diagnosing coexisting steroid induced myopathy during treatment.

• Annals of Clinical Neurophysiology
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• v.10 no.2
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• pp.112-115
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• 2008

Colchicine is a drug used for the treatment of acute gouty arthritis or various autoimmune diseases. Gastrointestinal adverse effects such as abdominal pain and vomiting are the common side effects of the drug, but rarely myopathy has been reported to occur particularly in renal recipients who were treated concomitantly with immunosuppressants. Herein, we report a case who presented with acute myopathy after treated with colchicine for acute gouty arthritis.

• Journal of Yeungnam Medical Science
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• v.4 no.1
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• pp.133-137
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• 1987

Myopathy in primary aldosteronism is relatively rare disease in Korea. A 42-year-lod woman with hypokalemic periodic paralysis, proximal muscle weakness and hypertension was found to have myopathy associated with adenoma in the right adrenal gland. She showed marked elevation of muscle enzymes and myopathic pattern in EMG.

• Annals of Clinical Neurophysiology
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• v.7 no.2
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• pp.110-113
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• 2005

Patients of chronic alcoholism may show many kinds of complications such as myopathy, nutritional problems, peripheral neuropathy, withdrawal seizure and encephalopathies. We report an unusual case of alcoholic myopathy diagnosed with typical laboratory and pathological findings initially manifested as acute reversible encephalopathy showing transient abnormalities on brain MRI.

• Clinics in Shoulder and Elbow
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• v.24 no.3
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• pp.178-182
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• 2021

A 50-year-old woman who had been previously diagnosed with systemic lupus erythematosus consulted our clinic for pain and weakness in her right shoulder. On examination, she had an atrophied deltoid muscle, a painful right shoulder on movement, and a tender mass in the deltoid area. The patient was diagnosed with corticosteroid-induced deltoid myopathy, shoulder pain, and loss of range of motion that did not resolve with conservative treatment. We decided to perform reverse shoulder arthroplasty. No complications were observed at the last follow-up visit at 3 years postoperative. Unlike deltoid insufficiency that results from axillary nerve injury, deltoid myopathy due to corticosteroid use contains intact fibers,. Therefore, we increased the effectivity of the remaining deltoid fibers by extending the moment arm of the anterior fibers using reverse shoulder arthroplasty and achieved reliable improvements in clinical symptoms and function without increasing the risk of dislocation.

• Journal of Veterinary Clinics
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• v.27 no.2
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• pp.198-201
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• 2010

This case report describes capture myopathy in an 8-month-old female red-necked wallaby (Macropus rufogriseus) that died after a 14-day history of depression, lameness and astasia following a bathing protocol for dermatitis. In a blood test performed the day after the wallaby fell down, serum chemistry showed a normal rangeof LDH but elevated CK, ALT and AST. Upon histopathologic examination after the animal's death, we found degeneration and necrosis of myofibers in skeletal muscle and myocardium. According to history that the wallaby was pressed by other individuals, suspected vitamin E insufficiency in the diet, physical stress during bathing as well as results of a blood test and microscopic examination, we diagnosed this case as capture myopathy. Although capture myopathy is a common problem in marsupials, this is the first reported case in Korea and understanding this case will help to manage future cases of capture myopathy in captive settings in Korea.

• Investigative Magnetic Resonance Imaging
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• v.2 no.1
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• pp.89-95
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• 1998

Purpose : To investigate the phosphorus metabolic abnormalities in skeletal muscle of patients with mitochondrial myopathy using in vivo $^{31}P$ magnetic resonance spectroscopy(MRS). Materials and Methods : Patients with mitochondrial myopathy(N=10) and normal control subjects (N=10) participated. All in vivo $^{31}P$ MRS examinations were performed on 1.5T whole-body MRI/MRS system by using an image selected in vivo spectroscopy (ISIS) pulse sequence that provided a $4{\times}4{\times}4{\;}cm^{3}$ volume of interest (VOI) in the right thigh muscle tissue. Peak areas for each phophorus methabolite were measured using a Marquart algorithm. Results : The specific features in patients with mitochondrial myopathy were a significant increase of Pi/PCr ratio (p=0.003) and a significant decrease of ATP/PCr ratio (p=0.004) as compared with normal controls. In particular, the ${\beta}-ATP/PCr$ ratio between controls and patients with mitochondrial myopathy was predominantly altered. Conclusions : In vivo $^{31}P$ MRS may be a useful modality in the clinical evaluation of patients with mitochondrial myopathy based on ATP/PCr and Pi/PCr ratios in skeletal muscle tissue and provides a valuable information in further understanding disorders of muscle metabolism.