• Clinical and Experimental Pediatrics
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• 제51권12호
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• pp.1350-1354
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• 2008

척수성 근위축증은 상염색체 열성으로 유전되며 사지 및 몸통 근위부와 원위부의 광범위한 근력약화를 특징으로 한다. 5번 염색체 장완(5q11.2-13.3)에 위치한 survival motor neuron (SMN) 유전자의 결손이 그 원인이다. 척수성 근위축증은 순수하게 운동신경만 침범하는 것으로 알려져 있다. 분자유전학적 방법으로 유전자의 결손을 증명하므로써 진단할 수 있다. 저자들은 아주 이른 영아시기부터 심한 근긴장도 저하와 잦은 폐흡인을 보였고, 분자 유전학적 검사로 척수성 근위축증을 진단한 2명의 환아에서 신경전도 검사상 광범위한 감각신경을 침범한 경우를 경험하여 보고하는 바이다. 본 증례는 감각 신경을 침범한 척수성 근위축증에 대해 국내에서는 첫번째 보고로 생각한다.

• Annals of Clinical Neurophysiology
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• 제2권2호
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• pp.107-113
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• 2000

Background & Objectives : Motor evoked potentials(MEPs) to magnetic trans cranial stimulation were performed to evaluate upper motor neuron involvement and relationship to lower motor neuron involvement in motor neuron disease patients. Method : MEPs were obtained in the 17 consecutive patients with motor neuron disease. These patients were divided into three group based on clinical evidence of upper and lower motor neuron involvement, bulbar symptom; amyotrophic lateral sclerosis(ALS), progressive muscular atrophy(PMA), progressive bulbar palsy(PBP). MEPs were recorded from abductor pollicis brevis and abductor hallucis muscles. Abnormal MEPs were defined by delayed central motor conduction time or absent MEP. Results : MEPs were abnormal in 64%(11/17) of patients; 100%(7/7) in ALS, 64%(4/7) in PMA, 0%(0/3) in PBP respectively. In 68 total recording muscles, 34 muscles had evidence of motor weakness and showed abnormal responses in 59%(20/34). Whereas 34 muscles with normal strength, only 3%(1/34) of muscles showed abnormal response. Conclusion : MEPs are well correlated with upper motor neuron signs in ALS and may detect masking upper motor neuron signs in PMA. The muscles with lower motor neuron sign(weakness) usually relate with abnormal MEPs reponses.

• Journal of Genetic Medicine
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• 제17권2호
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• pp.89-91
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• 2020

Charcot-Marie-Tooth (CMT) disease can be divided mainly into demyelination and axonopathy based on the results of the electrophysiological study. Mitofusin 2, encoded by MFN2 gene, has a crucial role in the fusion of mitochondria, which is known to associate with CMT type 2A as one of the axonal forms. We describe a 44-year-old man with progressive weakness on bilateral legs after noticing foot drop in his early teen. When we examined him at 45 years of age, he presented atrophy on entire legs and with distal muscle weakness on limbs. The nerve conduction study revealed severely decreased amplitude on motor nerve ranging from 0.2 to 4.5 mV, while conduction velocity remained more than 30.4 m/s. The whole-exome sequencing revealed a novel variant c.2228G>T in MFN2 by efficient genetic analysis tool, MutationDistiller. This report will not only expand the mutation spectrum of CMT2A but also introduce a time-saving genetic analysis tool.

• Journal of Genetic Medicine
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• 제16권2호
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• pp.67-70
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• 2019

Limb-girdle muscular dystrophy (LGMD) is a group of muscular dystrophies that has extremely heterogeneous clinical features and genetic background. The caveolin-3 gene (CAV3) is one of the causative genes. LGMD appears as a clinical continuum, from isolated skeletal muscle involvement to long QT syndrome. Here we report two patients without apparent muscle weakness in a family with CAV3 mutation. A 7-month-old Korean boy visited our muscle clinic because of an incidental finding of elevated serum creatine kinase (CK) concentration (680 IU/L, reference range, 20-270 IU/L) without clinical symptoms. The patient was born after an uneventful pregnancy and showed normal developmental milestones. He developed pseudohypertrophy of his calf muscle during the follow-up. We obtained a muscle biopsy at age 14 months, which showed size variations and degenerating/regenerating myofibers with endomysial fibrosis and immunohistochemical evidence of normal dystrophin. Under the impression of LGMD, we performed target panel sequencing and identified a heterozygous in-frame mutation of CAV3, c.307_312delGTGGTG (p.Val103_Val104del). Immunohistochemical staining of muscle indicated complete loss of caveolin-3 compared with normal control muscle, which supported the variant's pathogenicity. We performed segregation analysis and found that the patient's mother had the same variant with elevated serum CK level (972 IU/L). We report on autosomal dominant familial caveolinopathy caused by a pathogenic variant in CAV3, which was asymptomatic until the fourth decade. This case highlights the utility of next generation sequencing in the diagnosis of muscular dystrophies and the additive role of muscle biopsy to confirm the variants.

• Journal of Yeungnam Medical Science
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• 제27권1호
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• pp.42-46
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• 2010

Eosinophilic myositis is a rare idiopathic inflammatory muscle disease, and the patients with this malady present with diverse signs and symptoms such as muscle swelling, tenderness, pain, weakness, cutaneous lesions and eosinophilia. The etiology and pathogenesis of eosinophilic myositis remain elusive. Several drugs may occasionally initiate an immune mediated inflammatory myopathy, including eosinophilic myositis. We report here on a case a 17-year-old female patient who had taken anti-tuberculosis medicine for tuberculosis pleurisy. She presented with many clinical manifestations, including fever, skin rash, proximal muscle weakness, dyspnea, dysphagia and hypereosinophilia. She was diagnosed with eosinophilic myositis by the pathologic study. The muscle weakness progressed despite of stopping the anti-tuberculosis medicine, but the myositis promptly improved following the administration of glucocorticoid. Although drug induced myopathies may be uncommon, if a patient presents with muscular symptoms, then physicians have to consider the possibility of drug induced myopathies.

• Annals of Clinical Neurophysiology
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• 제12권2호
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• pp.70-72
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• 2010

We report a 53-year-old male having Kennedy disease who complained of severe bilateral tinnitus and autophony. He was diagnosed as patulous Eustachian tube based on the observation of fluttering motion of the tympanic membrane associated with respiration, which is presumed to occur secondary to bulbar weakness. The patulous Eustachian tube affected the management of his respiratory problem by impairing his ability to tolerate BiPAP. We report this rare condition with a literature review.

• The Korean Journal of Pain
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• 제29권4호
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• pp.270-273
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• 2016

Muscular hypertrophy is caused mainly due to myopathic disorder. But, it is also rarely produced by neurogenic disorder. A 74-year-old woman complained of right calf pain with hypertrophy for several years. Recent lumbar spine magnetic resonance imaging (MRI) showed central and lateral canal narrowing at the L4-L5 intervertebral space. Lower extremity MRI revealed fatty change of right medial head of the gastrocnemius and soleus, causing right calf hypertrophy. Electrodiagnostic examinations including electromyography and nerve conduction velocity testing demonstrated $5^{th}$ lumbar and $1^{st}$ sacral polyradiculopathy. Integrating all the results, the diagnosis was neurogenic muscle hypertrophy. Neurogenic muscle hypertrophy is very rare, but we recommend that clinicians consider this problem when a patient complains of lower limb hypertrophy and pain.

• Journal of Korean Neurosurgical Society
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• 제50권1호
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• pp.57-59
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• 2011

Intradural extramedullary (IDEM) ependymomas occur very rarely and little has been reported about their clinical characteristics. The authors present a case of a 57-year-old woman with an IDEM ependymoma. She was referred for the evaluation of a 4-month history of increasing neck pain and muscular weakness of the left extremities. Magnetic resonance imaging (MRI) of the cervical spine demonstrated an IDEM tumor with spinal cord compression. At the time of surgery, an encapsulated IDEM tumor without a dural attachment or medullary infiltration was noted, but the tumor capsule adherent to the spinal cord and root was left in place to minimize the risk of neurological sequelae. Histologic examination revealed a benign classic ependymoma. The post-operative course was uneventful and radiotherapy was performed. The patient showed an excellent clinical recovery, with no recurrence after 5 years of follow-up.

• 대한한의학회지
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• 제23권2호
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• pp.225-230
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• 2002

Dermatomyositis is an inflammatory cutaneo-muscular disease of unknown etiology, characterized by symmetrical proximal muscle weakness and typical dermatologic manifestation. Henoch-Schonlein purpura is most common in children. In Korea, dermatomyositis or Henoch-Schonlein purpura associated with herbal medicine has not been reported. The subject patient is a seven year-old girl diagnosed with dermatomyositis in August 1999 and Henoch-Schonlein purpura in January, July 2001. There were symptoms of dermatomyositis such as headache, arthralgia, eruption, itching and abdominal pain. I think the herb-prescription composed or Radix astragali (Huangqi), Herba agrimoniae (Xianhecao), Fructus jujubae (Dazao) had an ameliorating effect on Henoch-Schonlein purpura by decreasing these symptoms.

• Annals of Clinical Neurophysiology
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• 제22권1호
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• pp.29-32
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• 2020

Sarcoglycanopathies are a rare group of autosomal recessive limb-girdle muscular dystrophies (LGMDs) caused by genetic variants in α-, β-, γ-, or δ-sarcoglycan that maintain membrane integrity and contribute to molecular signal processing. High-throughput nucleotide sequencing was performed in patients with slowly progressive proximal muscle weakness from early childhood with respiratory involvement, which detected a novel homozygous nonsense variant (c.601C>T;p.Gln201Ter) in SGCB. This report informs about the clinical characteristics of LGMD2E (type-2E LGMD) in Korea and provides genetic confirmation of the disease.