• Neonatal Medicine
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• 제28권2호
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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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• 제28권2호
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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.

• 척추신경추나의학회지
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• 제4권2호
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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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• 제18권1호
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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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• 제10권2호
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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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• 제4권1호
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• pp.133-137
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• 1987

저자 등은 임상증상, 지속적인 저칼률혈증 및 복부 질산화단층촬영으로 원발성 고-알도스테론증으로 밝혀졌는 42세 여자환자에서 주요 증상인 주기적 근마비와 상지 근죄악감이 혈청감사상 지명한 근육효소의 증가 및 근전도검사로 근육병임이 증명되었고 선종제거로 임상증상의 완전조직이 생긴 1례를 보고하였다.

• Annals of Clinical Neurophysiology
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• 제7권2호
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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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• 제24권3호
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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.

• 한국임상수의학회지
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• 제27권2호
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• pp.198-201
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• 2010

본 증례는 8개월령의 암컷 붉은목왈라비에서 발생한 포획근병증으로, 피부병 치료를 위하여 약욕 후 침울, 파행, 기립불능증의 임상증상을 보이다 14일 후에 폐사하였다. 왈라비가 기립불능 증상을 보인 다음날 실시한 혈액검사 에서, CK, ALT, AST의 상승을 확인하였다. 폐사 후 실시한 조직검사에서, 골격근과 심근의 근섬유가 퇴행되고, 괴사 된 소견을 발견할 수 있었다. 동거 개체로부터의 압박과 비타민 E의 부족이 의심되는 급여력, 약욕시의 스트레스등과혈액검사와 조직검사 결과 포획근병증으로 진단하였다. 포획근병증은 유대류에서 호발하는 질병으로 알려져 있으나 국내에서의 발병보고는 본 증례가 최초로, 포획근병증의 관리에 도움이 될 것이다.

• Investigative Magnetic Resonance Imaging
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• 제2권1호
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• pp.89-95
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• 1998

목적 : 인($^{31}P$) 자기공명분광법을 사용하여 사립체 근병(mitochondria myopathy) 환자의 대퇴부 근조직의 대사물질의 변화를 정상인과 비교조사하였다. 대상 및 방법 : 사립체 근병환자 10명과 정상인 10명을 대상으로 1.5T MRI/MRS 장비를 사용하여 인($^{31}P$) 자기공명분광법을 적용하였다. 오른쪽 대퇴부위의 근조직에 $4{\;}{\times}{\;}4{\;}{\times}4{\;}cm^{3}$ 의 관심부위 (volume of interest ; VOI)를 선정하여 image selected in vivo spectroscopy (ISIS)를 저용하였다. 인대사불질의 정\ulcorner분석은 Marquart algorithm을 사용하였다. 결과 : 사립체 근병환자의 특징은 정상인과 비교하여 Pe/PCr 대사비율이 상당히 증가하고 (P=0.003), ATP/PCr 대사비율은 상당히 감소하였다(p=0.004). 특히 ATP 중 ${\beta}-ATP/PCr$ 비율의 변화가 가장 심하게 나타났다. 환자군과 정상군의 pH 차이는 통계학적으로 큰 의의는 없었다. 결론 : 인($^{31}P$) 자기 공명분광법은 사립체 근병환자의 대퇴부 근조직의 ATP/PCr 과 Pi/PCr 대사비율을 토대로 유용한 임상 평가 자료를 제공하고, 따라서 근대사물질의 질병을 이해하는데 도움을 줄 것으로 사료된다.