• Title, Summary, Keyword: progressive muscle atrophy

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Clinical Report of Oriental Medicine Treatment with Bee Venom Therapy of Progressive muscle atrophy 1 Patient (봉약침(蜂藥針)을 이용(利用)한 진행성 근위축증 환자(患者) 1례(例)에 대(對)한 증례보고(症例報告))

  • Kim, Young-Ho;Yook, Tae-Han;Song, Beom-Yong;Lee, Dong-Ho
    • Journal of Pharmacopuncture
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    • v.3 no.1
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    • pp.119-140
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    • 2000
  • The authors reports in order to study the effect of Bee Venom therapy of progressive muscle atrophy. The authors investigated 1 patient who is treated at Woosuk University Oriental Medical Hospital. The patient diagnosed by MRI EMG Hematology Muscle biopsy as progressive muscle atrophy is administered by Bee Venom therapy for 4 months. Bee Venom therapy is operated by 2 times per a week(every 3 days, 0.1cc per one operation, 0.05cc per one acupuncture point). The authors checked changes of this patient's chief symptoms by comparing before and after Bee Venom therapy is operated at 30 times. After Bee Venom therapy, the patient increased motor power & ROM, decreased general cooling sense & swallowing disorder. As above, the authors conclude that better results can be obtained Oriental Medical Treatment with Bee Venom therapy in progressive muscle atrophy

A Case Report of Progressive Hemifacial Atrophy (진행성 반안면위축환자의 치험례)

  • Choi, Moon-Gi
    • Maxillofacial Plastic and Reconstructive Surgery
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    • v.32 no.4
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    • pp.344-350
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    • 2010
  • A progressive hemifacial atrophy is characterized by progressive atrophy of subcutaneous fat and rarely muscle and bone. Its contour follows the underlying muscle. Unilateral involvement is common. The treatment goal has been focused on the augmentation of the soft tissue. Many materials such as implants, collagen, fat graft, fat injection, dermal fat graft, filler and vascualized autogenous graft have been used. Although these materials have been used, the best treatment hasn't been achived. In severe cases underlying soft tissue, muscle and bone may be atrophied and massive soft tissue graft, implant and orthognathic surgery must be used. The author used the dermal-fat tissue for the pupose of soft tissue augmentation. We can get the massive soft tissue by the dermolipectomy procedure through the mini-abdominoplsty. The facial augmentation was done by augmentation of the dermal-fat tissue. The progressive hemifacial atrophy is hard to treat by only one procedure and many modalites must be considered.

Multifocal Motor Neuropathy (다초점성 운동신경병증)

  • Lee, Dong-Kuck
    • Annals of Clinical Neurophysiology
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    • v.4 no.2
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    • pp.98-107
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    • 2002
  • Multifocal motor neuropathy (MMN) is a chronic immune-mediated peripheral myelinopathy. The major clinical features include slowly progressive, painless, and asymmetric weakness, usually of distal limb muscle. Early in the course of the disease, weakness is not necessarily associated with muscle atrophy, owing to the initial primary involvement of peripheral myelin. Chronic progressive weakness is often associated with some degree of concurrent axonal loss and subsequent muscle atrophy. Sensory symptoms are usually mild or absent, and involvement of cranial and respiratory muscles is rare. The findings of multifocal motor conduction block, abnormal temporal dispersion, and focal conduction slowing at segments not at risk for common entrapment or compression injury, associated with normal sensory conduction studies along the same segments, are the hallmark electrophysiologic features of MMN. The slow progression and absence of upper motor neuron signs are the major clinical points that separate MMN from amyotrophic lateral sclerosis. The role of GM1 antibodies, found in high titers in 22~84% of MMN patients, remains uncertain. The contention that MMN is an autoimmune disorder is largely based on the often dramatic improvement in symptoms following the administration of intravenuos immunoglobulin or cyclophosphamide.

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A case of spinal muscular atrophy typeⅡ (제 2 형 척수근위축증(SMA type II; Spinal muscular atrophy typeⅡ) 환아 1례에 대한 증례보고)

  • Jo Hyeong-Jun;Lee Jin-Yong;Kim Deok-Gon
    • 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.

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Distal Myopathies (원위 근병증)

  • Lee, Dong Kuck
    • Annals of Clinical Neurophysiology
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    • v.3 no.1
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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.

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Idiopathic Polymyositis in a Young Mature Alaskan malamute (젊은 성숙 알라스칸 말라뮤트에서 특발성 다발성근염 증례)

  • Lee, Jae-Il;Hong, Sung-Hyeok;Son, Hwa-Young;Kim, Myung-Cheol
    • Journal of Veterinary Clinics
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    • v.24 no.2
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    • pp.244-246
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    • 2007
  • Clinical and histopathologic features of idopathic polymyositis in twenty-month-old Alaskan malamute dog are described. The clinical signs were progressive exercise intolerance with acute exacerbation of weakness, muscle atrophy, synchronous pelvic limb gait, short stiff steps and tip-toeing as like walking on eggshells. Physical and clinical examination revealed no evidence of neurologic, skeletal and secondary muscular disorders associated with other diseases. Therefore muscle biopsy was performed at the most severe muscle atrophy lesions to confirm by histopathology. Histopathologic findings documented mononuclear cell infiltration and necrosis of muscle fiber and it was diagnosed as idiopathic polymyositis. Initial treatment was focused on pain relief. Prednisone at immunosuppressive dose (2 mg/kg) was administered orally twice daily. After 3 weeks of starting treatment, the patient showed improvement of gait, appetite, exercise as well as gradually return to normal state of hematologic and serum chemistry profiles.

Genotype-Phenotype Correlation of SMN1 and NAIP Deletions in Korean Patients with Spinal Muscular Atrophy

  • Ahn, Eun-Ji;Yum, Mi-Sun;Kim, Eun-Hee;Yoo, Han-Wook;Lee, Beom Hee;Kim, Gu-Hwan;Ko, Tae-Sung
    • Journal of clinical neurology
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    • v.13 no.1
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    • pp.27-31
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    • 2017
  • Background and Purpose Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease characterized by progressive muscle weakness and atrophy. Most SMA patients have a homozygous deletion in survival of motor neuron 1 (SMN1) gene, and neuronal apoptosis inhibitory protein (NAIP) gene is considered a phenotype modifier. We investigated the genotype-phenotype correlation of SMN1 and NAIP deletions in Korean SMA patients. Methods Thirty-three patients (12 males and 21 females) treated at the Asan Medical Center between 1999 and 2013 were analyzed retrospectively. The polymerase chain reaction (PCR), restriction-fragment-length polymorphism analysis, and multiplex PCR were used to detect deletions in SMN1 (exons 7 and 8) and NAIP (exons 4 and 5). We reviewed clinical presentations and outcomes and categorized the patients into three clinical types. NAIP deletion-driven differences between the two genotypes were analyzed. Results Deletion analysis identified homozygous deletions of SMN1 exons 7 and 8 in 30 patients (90.9%). Among these, compared with patients without an NAIP deletion, those with an NAIP deletion showed a significantly lower age at symptom onset ($1.9{\pm}1.7months$ vs. $18.4{\pm}20.4months$, $mean{\pm}SD$; p=0.007), more frequent type 1 phenotype (6/6 vs. 8/24, p=0.005), and worse outcomes, with early death or a requirement for ventilator support (4/4 vs. 2/12, p=0.008). Conclusions Homozygous deletion in SMN1 and a concurrent NAIP deletion were associated with an early onset, severe hypotonia, and worse outcome in SMA patients. Deletion analysis of NAIP and SMN1 can help to accurately predict prognostic outcomes in SMA.

A Case of Mitochondrial Respiratory Chain Defect with Progressive Bilateral Cararacts (진행성 양측 백내장이 동반된 미토콘드리아 질환 1례)

  • Lee, Soonie;Lee, Young-Mock
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.18 no.3
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    • pp.95-98
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    • 2018
  • A striking feature of mitochondrial disorders is the vast heterogeneity in their clinical symptoms that ranges from a single organ to severe multisystem involvement. Though a variety of ocular symptoms such as ptosis, pigmentary retinal degeneration, external ophthalmoplegia, and optic nerve atrophy can occur in association with mitochondrial cytopathies, progressive bilateral cataracts are rare among their ocular findings. A 5-year-old girl with no previous medical history came to our hospital presenting symptoms of seizure. She started showing progressive developmental regression, increased seizure frequency, hypotonia, general weakness, dysphagia and decreased vision. Lactic acidosis was noted in metabolic screening test and we confirmed mitochondrial respiratory chain complex I defect in spectrophotometric enzyme assay using the muscle tissue. Progressive bilateral cataracts then developed and were fully evident at the age of 7. She underwent cataract extraction with posterior chamber lens implantation. We are reporting a case of mitochondrial respiratory chain defect with multiorgan involvements including bilateral progressive cataract, an uncommon ocular manifestation. Ophthalmologic evaluation is highly recommended not to overlook the possible ocular manifestations in mitochondrial disorders.

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BAG3 mutation in a patient with atypical phenotypes of myofibrillar myopathy and Charcot-Marie-Tooth disease

  • Kim, Seung Ju;Nam, Soo Hyun;Kanwal, Sumaira;Nam, Da Eun;Yoo, Da Hye;Chae, Jong?Hee;Suh, Yeon?Lim;Chung, Ki Wha;Choi, Byung?Ok
    • Genes and Genomics
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    • v.40 no.12
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    • pp.1269-1277
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    • 2018
  • Bcl2-associated athanogene 3 (BAG3) mutations have been reported to cause the myofibrillar myopathy (MFM) which shows progressive limb muscle weakness, respiratory failure, and cardiomyopathy. Myopathy patients with BAG3 mutation are very rare. We described a patient showing atypical phenotypes. We aimed to find the genetic cause of Korean patients with sensory motor polyneuropathy, myopathy and rigid spine. We performed whole exome sequencing (WES) with 423 patients with sensory motor polyneuropathy. We found BAG3 mutation in one patient with neuropathy, myopathy and rigid spine syndrome, and performed electrophysiological study, whole body MRI and muscle biopsy on the patient. A de novo heterozygous p.Pro209Leu (c.626C>T) mutation in BAG3 was identified in a female myopathy. She first noticed a gait disturbance and spinal rigidity at the age of 11, and serum creatine kinase levels were elevated ninefolds than normal. She showed an axonal sensory-motor polyneuropathy like Charcot-Marie-Tooth disease (CMT), myopathy, rigid spine and respiratory dysfunction; however, she did not show any cardiomyopathy, which is a common symptom in BAG3 mutation. Lower limb MRI and whole spine MRI showed bilateral symmetric fatty atrophy of muscles at the lower limb and paraspinal muscles. When we track traceable MRI 1 year later, the muscle damage progressed slowly. As far as our knowledge, this is the first Korean patient with BAG3 mutation. We described a BAG3 mutation patient with atypical phenotype of CMT and myopathy, and those are expected to broaden the clinical spectrum of the disease and help to diagnose it.

Association between MIR149 SNPs and Intrafamilial Phenotypic Variations of Charcot-Marie-Tooth Disease Type 1A (샤르코-마리-투스병 1A형(CMT1A)의 가족내 표현형적 이질성과 MIR149 SNP에 대한 연관성 연구)

  • Choi, Yu Jin;Lee, Ah Jin;Nam, Soo Hyun;Choi, Byung-Ok;Chung, Ki Wha
    • Journal of Life Science
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    • v.29 no.7
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    • pp.800-808
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    • 2019
  • Charcot-Marie-Tooth disease (CMT) is a group of rare peripheral neuropathies characterized by progressive muscle weakness and atrophy and areflexia in the upper and lower extremities. The most common subtype of CMT is CMT1A, which is caused by a tandem duplication of the PMP22 gene in the 17p12 region. Patients with CMT1A show a loose genotype-phenotype correlation, which suggests the existence of secondary genetic or association factors. Recently, polymorphisms of rs71428439 (n.83A>G) and rs2292832 (n.86T>C) in the MIR149 have been reported to be associated with late onset and mild phenotypic CMT1A severity. The aim of this study was to examine the intrafamilial heterogeneities of clinical phenotypes according to the genotypes of these two SNPs in MIR149. For this study, we selected 6 large CMT1A families who showed a wide range of phenotypic variation. This study suggested that both SNPs were related to the onset age and severity in the dominant model. In particular, the AG+GG (n.83A>G) and TC+CC genotypes (n.86T>C) were associated to late onset and mild symptoms. Motor nerve conduction velocity (MNCV) was not related to the MIR149 genotypes. These results were consistent with the previous studies. Therefore, we suggest that the rs71428439 and rs2292832 variants in MIR149 may serve as genetic modifiers of CMT1A intrafamilial phenotypic heterogeneity, as they have a role in the unrelated patients. This is the first study to show an association using large families with variable clinical CMT1A phenotypes. The results will be helpful in the molecular diagnosis and treatment of patients with CMT1A.