• Annals of Clinical Neurophysiology
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• 제21권2호
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• pp.79-86
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• 2019

Background: Magnetic resonance (MR) images are useful for diagnosing myopathy. The purpose of this study was to determine the usefulness of lower-limb MR images in Korean patients with distal myopathy. Methods: We reviewed medical records in the myopathy database from January 2002 to October 2016. We selected 21 patients from 91 unrelated families with distal myopathy: four with GNE myopathy, 11 with dysferlinopathy, and six with ADSSL1 myopathy. Results: Ten (48%) of the 21 patients were men. The ages of the participants at symptom onset and imaging were $19.2{\pm}9.5$ and $30.4{\pm}9.0$ years (mean${\pm}$standard deviation), respectively. Their grade on the modified Gardner-Medwin and Walton grade was $3.3{\pm}1.7$. The strength grade of the knee extensors was not correlated with the Mercuri scale for the quadriceps (r = -0.247, p = 0.115). However, the Medical Research Council grades of the knee flexors, ankle dorsiflexors, and ankle plantar flexors were significantly correlated with the Mercuri scale ratings of the knee flexors (r = -0.497, p = 0.001), tibialis anterior (r = -0.727, p < 0.001), and ankle plantar flexors (r = -0.620, p < 0.001), respectively. T1-weighted MR images showed characteristic fatty replacement patterns that were consistent with the causative genes. Unsupervised hierarchical clustering of the Mercuri scale showed that the main factors contributing to the dichotomy were the causative gene and the clinical severity. Conclusions: This study is the first to reveal the usefulness of lower-limb MR images in the differential diagnosis of distal myopathy in Korea.

• Annals of Clinical Neurophysiology
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• 제3권1호
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• pp.1-8
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• 2001

The distal myopathies(DM) are clinically defined as inherited or sporadic primary muscle disorders characterized by progressive muscular weakness and atrophy beginning in the hands or feet and pathologically by myopathic changes in skeletal muscles. The pathologic changes are somewhat similar to those seen in chronic muscular dystrophy, but necrotic and regenerative processes are less prominent and creatine kinase levels are either normal or only mildly elevated. The most representative diseases are dominantly inherited Welander distal myopathy and tibial muscular dystrophy, and the recessively inherited distal myopathy with rimmed vacuoles and distal muscular dystrophy(Miyoshi myopathy). At present, further study is necessary to determine why rimmed vacuoles are so common in the DM, and what role they play in the pathogenesis of muscle fiber atrophy and loss, predominantly in the distal portions of the extremities.

• 생명과학회지
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• 제24권3호
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• pp.311-317
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• 2014

Rimed vacuole을 가진 원위 근육병(distal myopathy with rimmed vacuoles, DMRV)은 제2형 유전성 봉입체 근육병으로도 불리며 초기 성인기에 발병하여 원위부의 근력약화를 보이는 임상양상과 rimmed vacuole의 근육병리소견을 특징으로 하는 상염색체 열성의 근육병이다. 이러한 DMRV의 원인은 UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) 유전자의 돌연변이임이 밝혀져 있다. 저자들은 원위부 근력약화를 호소하는 환자에서 전체 엑솜 염기서열분석을 이용하여 GNE 유전자의 복합 이형접합성 돌연변이(p.Asp176Val 및 p.Val572Leu)를 확인하여 DMRV를 진단할 수 있었다. 본 연구는 근육병의 정확한 분자진단에 있어서 전체 엑솜 염기서열분석의 유용성을 보여주었기에 이를 보고하는 바이다.

• Annals of Clinical Neurophysiology
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• 제18권1호
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• pp.31-33
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• 2016

• Journal of Genetic Medicine
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• 제13권1호
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• pp.51-54
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• 2016

Centronuclear myopathy (CNM) is a rare congenital myopathy that is pathologically characterized by the centrally located nuclei in most of the muscle fibers. On clinical examination, dynamin 2 (DNM2)-related CNM typically shows distal dominant muscle atrophy, ptosis, ophthalmoplegia, and contracture. The reported cases of CNM in Caucasian studies show a high prevalence rate of early-onset ptosis and ophthalmoplegia and correlated with the severity of the disease. However, Asian reports show a low prevalence and late-onset ocular symptoms in DNM2-related CNM patients. p.R465W is one of the most commonly found mutations in Western countries, and all the cases showed ocular symptoms. The proband and his daughter had no ocular symptoms despite harboring the same p.R465W mutation. This family makes us speculate that ocular symptoms in DNM2-related CNM are influenced by ethnic background. In addition, this is the first familial case of DNM2-related CNM in Korea.

• 생명과학회지
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• 제30권8호
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• pp.672-679
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• 2020

원위 근병증은 원위 근육의 퇴행성 질환이며 임상적, 유전적으로 이질적인 그룹이다. 당원 축적병 9D (GSD9D)는 원위 근병증 중 하나이며, 근육의 포스포릴라아제키나아제(phosphorylase kinase) 결핍을 특징으로 하는 대사 근병증이다. GSD9D 환자는 운동 후 근육 약화, 근육 변성, 경련과 비정상적인 근육통 및 근육 경직이 발생될 수 있다. GSD9D는 글리코겐 대사의 주요 조절 효소 인 근육 포스포릴라아제키나아제의 알파 소단위를 암호화하는 PHKA1 유전자의 돌연변이로 유발된다. 이 연구에서 우리는 한국인 GSD9D 가족에 대해 PHKA1 유전자에서 c.3314T> C (p.I1105T) 돌연변이를 동정하였다. 이 돌연변이는 이전에 어떠한 돌연변이 데이터베이스에서도 보고되지 않았으며 500명의 건강한 대조군에서도 발견되지 않았다. 이 돌연변이 영역은 다양한 다른 종 내에서 잘 보존되었으며 in silico 분석에서 돌연변이가 병원성일 가능성이 있다고 예측했다. 현재까지 PHKA1 유전자에는 보고된 병원성 돌연변이가 7개뿐이며 한국에서는 보고된 사례가 없다. 따라서 이 연구는 한국 GSD9D 환자의 첫번째 사례이다. 또한 이 연구는 이전에 보고된 환자와 한국 환자의 임상 증상과 병리 상태를 비교하고 설명하고자 하였다. 아울러 우리는 본 연구가 GSD9D의 분자 진단에 유용하게 활용될 것으로 기대한다.

• Annals of Clinical Neurophysiology
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• 제26권1호
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• pp.30-33
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• 2024

Rippling muscle disease (RMD) is caused by dominant mutations of the caveolin-3 gene (CAV3), and presents with overlapping limb-girdle muscle weakness, elevated creatine kinase (hyper-CKemia), RMD, and distal myopathy. We report a patient with a CAV3 mutation who presented with myalgia, exercise-induced muscle stiffness, hyperCKemia, and percussion-induced rapid muscle contraction and muscle mounding. A familial genetic study revealed the same mutation in two family members, with physical examinations showing that both of them had rippling muscles.

• Advances in pediatric surgery
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• 제8권1호
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• pp.54-61
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• 2002

Hirschsprung's disease (HD) is usually diagnosed in the newborn period and early infancy. The common presentation of HD in newborns consists of a history of delayed passage of meconium within the first 48 hours of life. The differential diagnosis in newborns is one of the clinical challenges of this disorder. A number of medical conditions which cause functional obstruction of the intestines are easily excluded. Neonates with meconium ileus, meconium plug syndrome, distal ileal atresia and low imperforate anus often present in a manner similar to those with HD in the first few days of life. Abdominal radiographs may help to diagnose complete obstruction such as intestinal atresia. Microcolon on contrast enema can be shown in cases with total colonic aganglionosis, ileal atresia or meconium ileus. Suction rectal biopsy or frozen section biopsy at operation is essential for differential diagnosis in such cases. HD is also considered in any child who has a history of constipation regardless of age. Older children with functional constipation may have symptoms that resemble those of HD and contrast enema is usually diagnostic. However, children with other motility disorders generally referred to as chronic idiopathic intestinal pseudoobstruction present with very similar symptoms and radiographic findings. These disorders are classified according to their histologic characteristics.; visceral myopathy, visceral neuropathy, intestinal neuronal dysplasia (IND), hypoganglionosis, immature ganglia, internal sphincter achalasia. Therefore, the workup for motility disorders should include rectal biopsy not only to confirm the presence of ganglion cells but also evaluate the other pathologic conditions.

• Journal of Yeungnam Medical Science
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• 제25권2호
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• pp.117-123
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• 2008

Dermatomyositis is characterized by progressive, symmetric, proximal muscle weakness and a nonsuppurative inflammatory myopathy of unknown etiology involving predominantly skeletal muscles. It is also characterized by typical skin lesions. Interstitial lung disease has a poor prognosis when it is associated with dermatomyositis. Organizing pneumonia is a disease in which granulation tissue fills the lumina of terminal and respiratory bronchioles and extends into the distal airspaces. The cryptogenic nature of the process is appreciated in that organizing pneumonia patterns of injury can be seen in secondary forms of the disease (secondary organizing pneumonia). Organizing pneumonia has been reported to occur in 5~10% in dermatomyositis-polymyositis patients. Anti-histidyl tRNA synthetase antibody (anti-Jo-1) is a predictive disease marker that is reported to occur in up to 70% of patients. We describe a 49-year-old male dermatomyositis patient who presented with organizing pneumonia and was found to have negative anti-Jo-1 antibody.