• The Journal of Pediatrics of Korean Medicine
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• v.14 no.1
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• pp.197-204
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• 2000

Neuromuscular disorders are common causes of weakness and hypotonia in the infantile period and in childhood. Accurate diagnosis of specific neuromuscular disorders depends first on identification of which aspect of the peripheral neuromuscular system is affected-the motor neuron in the spinal cord, the nerve root or peripheral nerve, the neuromuscular junction, or the muscle-and then on the determination of the etiology and specific clinical entity. Spinal muscular atrophy(SMA) is the most common autosomal-recessive genetic disorder lethal to infants. The three major childhood-onset forms of SMA are now usually called type I, type II and typeⅢ. Progression of the disease is due to loss of anterior horn cells, thought to be caused by apoptosis. Diagnosis is based on the course of the illness, as well as certain changes seen on nerve and muscle biopsy and electrodiagnostic studies. More recently, our understanding of the genetics of this disorder has provided a noninvasive approach to diagnosis. We report on a 3-year-old male patient with spinal muscular atrophy type II. He had progressive muscular weakness since 18 months of age. The upper arms were slightly, and the thighs moderately atrophic. There was muscle weakness of both the upper and lower limbs, being more proximal in distribution. Electromyogram revealed a neurogenic pattern.

• Clinical and Experimental Pediatrics
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• v.50 no.11
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• pp.1116-1124
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• 2007

Purpose : Juvenile dermatomyositis (JDM) is the most common of the idiopathic inflammatory myopathies in children. The purpose of this study is to observe demographic, initial presentations, duration of time between disease onset and diagnosis, clinical manifestations and laboratory findings at diagnosis of patients with JDM. Methods : Forty seven patients identified at Seoul National University Children's Hospital from January 1986 to May 2007. Medical records were reviewed retrospectively focusing on initial presentations, clinical manifestations and laboratory findings at the time of diagnosis of patients with JDM. Results : Male and female patients were 25 and 22, respectively and sex ratio was 1.14:1. The average age at the time of diagnosis was 6.51 years. Skin rash (94%) was the most common symptom, followed by the proximal muscle weakness (89%). The disease activity score was 10.8. The duration between the onset of the skin rash and the muscle weakness and diagnosis was 7.18 and 4.70 months, respectively. The serum muscle enzymes, LDH, AST, CK and aldolase, were elevated in the patient with JDM. Autoimmune antibodies, antinuclear antibody, anti SSA antibody and anti SSB antibody, were negative findings. Electromyography findings were consistent with JDM in 88% of the patients, the muscle biopsy was in 91% and all MRI findings were compatible with those of patients with JDM. The most common symptom besides musculocutaneous lesions was the calcinosis (62.5%). The most common site of calcinosis was the pelvic area and buttocks. Conclusion : This study shows that the major symptoms are proximal muscle weakness and cutaneous lesion, and they are important to diagnose JDM.

• 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.

• Journal of Korean Neurosurgical Society
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• v.55 no.5
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• pp.296-299
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• 2014

We report a rare case of pronator teres syndrome in a young female patient. She reported that her right hand grip had weakened and development of tingling sensation in the first-third fingers two months previous. Thenar muscle atrophy was prominent, and hypoesthesia was also examined on median nerve territory. The pronation test and Tinel sign on the proximal forearm were positive. Severe pinch grip power weakness and production of a weak "OK" sign were also noted. Routine electromyography and nerve conduction velocity showed incomplete median neuropathy above the elbow level with severe axonal loss. Surgical treatment was performed because spontaneous recovery was not seen one month later.

• Annals of Clinical Neurophysiology
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• v.8 no.1
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• pp.23-28
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• 2006

Background: central core disease is one of the non-progressive benign congenital myopathies characterized by the presence of cores in muscle fibers, which was originally described by Shy and Magee (1956). We describe clinical charcteristics of central core disease in a Korean family manifested by autosomal dominant pattern through three generations. Methods: Clinical, serologic, and electrophysiologic profiles were evaluated in eleven members among 22 family members through three generations. Results: Six family members were symptomatic and five were non-symptomatic. Instead of proximal muscle weakness, musculoskeletal manifestations including non-specific joint pain and stiff sense were the most frequent symptoms. Muscle biopsy performed in two symptomatic patients revealed that type I fiber showed central halo, which is charactreristics of central core disease. No remarkable findings were present in serologic study including CPK level and electromyographic findings suggesting myopathic pattern were only present in two patients among 11 symptomatic group. Conclusions: In evaluating non-specific musculoskeletal complaints from the familial members showing genetic trait, central core disease should be considered to one of the possible diagnosis.

• Journal of Oral Medicine and Pain
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• v.35 no.2
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• pp.155-163
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• 2010

Dermatomyositis (DM) is an idiopathic inflammatory connective tissue disorder and a systemic autonomic immune disease which shows a progressive muscle weakness and characteristic rash. It is identified by a characteristic rash accompanying, or more often preceding muscle weakness. Pathognomonic skin lesions are a blue-purple discoloration on the upper eyelids with edema (heliotropic rash), a flat red rash on the face and upper trunk, and erythema of the knuckles with a raised violaceous scaly eruption (Gottron's papule). The myopathy represents inflammatory and degenerative changes primarily affecting proximal muscles. DM often involves GI tract and respiratory system with as risk of 15-25% internal malignancy. It's managed with sun protection since muscle weakness as well as a rash could be aggravated by sun exposure. Systemic corticosteroid is an initial therapy and other immunosuppressive agent has been used as alternatives. Facial muscles are unaffected and masticatory muscles are rarely affected in DM. We present trismus close to muscle contracture in a patient with DM. Therefore, it needs continuous mouth-opening exercise to prevent progressive muscle contracture and to ensure normal mouth opening.

• Archives of Reconstructive Microsurgery
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• v.9 no.2
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• pp.139-146
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• 2000

The aim of this study was to assess whether the functional regeneration of a lyophilized autografted cartilage could be improved by implanting a vascularized muscle flap into the medullary canal of autografted proximal humerus. A hemijoint reconstruction using a lyophilized osteochondral autograft in proximal humerus was done in 4 rabbits for control, and combined with an vascularized intramedullary muscle flap in another 4 rabbits for the experimental group. Graft healing and the repair process of osteochondral graft were followed by serial radiographs and histologic changes for 9 weeks after experiments. Each two rabbits in control and in experimental group on 5th and 9th week after implantation of hemijoint were sacrified. The results were as follows: 1. All of control and experimental froups on 5th week united solidly on osteotomized site radiologically, but their articular cartilages were destroyed more seriously in the control than that in experimental group with muscle flap on 5th and 9th week after experiment... 2. Histochemically, the cartilage surface are completely destroyed and revealed with severe osteoarthritic changes on all cartilage layers in control, but cartilaginous erosions are mild to moderate and their arthritic changes are also mild with somewhat regeneration of chondrocytes on deep layers more prominetly on 9th week of the experimental group. 3. The amount of collagen and protenized matrix which was determined by Masson-Trichrome stain was markedly decreased that means the weakness of bony strength and low osteogenic potential in lyophilized cartilage. These results suggest that an intramedullary vascularized muscle flap can improve the functional results of lyophilized osteochondral autograft by providing both increased vascularity and populations of mesenchymal cells to initiate new bone formation on osteotomized site as well as the regeneration of deep layers in articular cartilage. In clinical relevances, this lyophilized hemijoint autograft combined with an intramedullary vascularized muscle pedicle graft might be used very effectively for the treatment of malignant long bone tumors to preserve the joint functions, all or partly, and so to replace it with the artificial joint after tumor excision and hemijoint autograft.

• Annals of Clinical Neurophysiology
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• v.11 no.2
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• pp.67-70
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• 2009

Colchicine is widely used in the treatment of gouty arthritis, and chronic use of colchicine can cause vacuolar myopathy. We report colchicine-induced myopathy with electrophysiological myotonia in a patient with gouty arthritis. A 86-year-old man with gouty arthritis presented with progressive proximal weakness and gait disturbance. Electrophysiological finding showed myotonic myopathy and muscle biopsy revealed a vacuolar myopathy. His symptoms soon resolved with the discontinuation of colchicine.

• The Journal of Korean Medicine
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• v.23 no.2
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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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• v.22 no.1
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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.