- Camptocormia Due to Selective Paraspinal Muscle Atrophy
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Paik JW, Kang SY, Kim MA, Sohn YH
- KMID: 2065675
- J Korean Neurol Assoc.
- 2008 May;26(2):162-164.
No abstract available. -
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- A Case of Spinal Muscular Atrophy with Hypertrophy of Calf-Muscles
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Ahn MY, Lee KH
- KMID: 1661995
- J Korean Neurol Assoc.
- 1986 Dec;4(2):235-238.
Hypertrophy of the calves has been described in spinal muscular atrophy (SMA) syndrome. Pearn and Hudgson described a new spinal muscular atrophy syndrome characterized adolescent onset, gross hypertrophy of the... -
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- Spinal Muscular Atrophy Type 2 in Siblings
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Jeon JS, Lee DH, Cho BS, Chung SJ, Ahn CI
- KMID: 1682820
- J Korean Pediatr Soc.
- 1989 May;32(5):718-723.
No abstract available. -
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- Bilateral Corneal Opacities with Galactokinase Deficiency and Spinal Muscular Atrophy
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Cho SY, Kim S, Chung SK
- KMID: 2466189
- J Korean Ophthalmol Soc.
- 2019 Dec;60(12):1318-1322.
- doi: 10.3341/jkos.2019.60.12.1318
PURPOSE: To report a case of bilateral corneal opacities and rare spinal muscular atrophy type III (Kugelberg-Welander disease) in a galactokinase-deficiency patient. CASE SUMMARY: A 6-year-old female presented with bilateral ground... -
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- A Case of Exon 7 and 8 Deletion of Survival Motor Neuron Gene in Spinal Muscular Atrophy
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Kim YD, Kim JC, Hwang CK, Lee KS
- KMID: 2329305
- J Korean Child Neurol Soc.
- 2003 May;11(1):163-167.
Spinal muscular atrophy(SMA) is a genetic disorder of the motor neurons that cause muscular weakness and muscular atrophy due to anterior horn cell degeneration. Classic spinal muscular atrophy patient is... -
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- Lethal Cardiac Complications in a Long-Term Survivor of Spinal Muscular Atrophy Type 1
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Cho MJ
- KMID: 2451775
- Kosin Med J.
- 2019 Jun;34(1):47-51.
- doi: 10.7180/kmj.2019.34.1.47
Spinal muscular atrophy (SMA) is a rare neuromuscular disease characterized by degeneration of the anterior horn cells of the spinal cord and motor nuclei in the lower brainstem, resulting in... -
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- A Case of Type III Proximal Spinal Muscular Atrophy Distinguished from Distal Spinal Muscular Atrophy: A case report
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Kim HS, Lee SC, Cho SK, Park YB, Lee SH, Moon JH, Park YG
- KMID: 2324437
- J Korean Acad Rehabil Med.
- 2007 Feb;31(1):113-118.
Spinal muscular atrophy (SMA) is a neuromuscular disorder characterized by progressive anterior horn cell degeneration leading to motor weakness, muscular atrophy and denervation. Recently, the genes responsible for proximal muscular... -
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- Familial Spinal Muscular Atrophy wigh Autosomal Dominant Inheritance
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Hwang YM, Lee IC
- KMID: 2016067
- J Korean Neurol Assoc.
- 1990 Jun;8(1):154-158.
Familial occurrence of spinal muscular atrophy(SMA) is not infrequent. Various modes of inheritance of the SMA have been reported and autosomal recessive inheritance appears the most frequent mode of transmission.... -
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- Intravenous Anesthesia in Spinal Muscular Atrophy: A case report
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Choi YH, Gwak M, Lee YK, Lee YM, Lee DH
- KMID: 1937353
- Korean J Anesthesiol.
- 2007 Dec;53(6):803-805.
- doi: 10.4097/kjae.2007.53.6.803
Spinal muscular atrophy (SMA) is a rare lower motor neuron disease in which anesthetic management is often difficult, because the patients usually have muscle weakness and hypersensitivity to muscle relaxants.... -
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- Epidural anesthesia for the patient with type IV spinal muscular atrophy: A case report
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Kim SJ, Kim EJ, Min BW, Ban JS, Lee SG, Lee JH
- KMID: 2237355
- Korean J Anesthesiol.
- 2010 Dec;59(Suppl):S65-S68.
- doi: 10.4097/kjae.2010.59.S.S65
Spinal muscular atrophy (SMA) is a rare lower motor neurone disease in which anesthetic management is often difficult as a result of muscle weakness, hypersensitivity to non-depolarizing neuromuscular blocking agent,... -
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- General anesthesia with endotracheal intubation for the patient with spinal muscular atrophy: A case report
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Hong SJ, Lee JY, Kim DS
- KMID: 2236516
- Korean J Anesthesiol.
- 2009 Sep;57(3):395-397.
- doi: 10.4097/kjae.2009.57.3.395
Spinal muscular atrophy (SMA) is a rare lower motor neuron disease without sensory loss that needs special care of anesthesiologists due to increased sensitivity to muscle relaxants, potential for aspiration... -
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- General anesthesia for a spinal muscular atrophy type I patientundergoing feeding gastrostomy: A case report
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Jang EH, Cho KR, Kim HT, Lim SH, Lee JH, Lee KM, Cheong SH, Kim YJ, Shin CM
- KMID: 1803585
- Anesth Pain Med.
- 2010 Oct;5(4):329-332.
Spinal muscular atrophy (SMA) in children leads to progressive muscle weakness, dysphagia, aspiration, and death. The most common and severe form of SMA is designated as type I, also known... -
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- A Case of Spinal Muscular Atrophy with Extensive Involvement of Sensory Nerves
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Sung KH, Lee JM, Lee R
- KMID: 2329586
- J Korean Child Neurol Soc.
- 2006 Nov;14(2):322-327.
Spinal muscular atrophy(SMA) is an autosomal recessive disease characterized by diffuse proximal and distal weakness due to the deletions of the survival motor neuron(SMN) genes localized on the chromosome 5(q11.2-q13.3).... -
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- General Anesthesia in a Child with Possible Spinal Muscular Atrophy Combined with Gingival Hyperplasia: A Case Report
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Seo KS, Park CJ, Kim HJ, Yum KW
- KMID: 2345161
- J Korean Dent Soc Anesthesiol.
- 2004 Nov;4(2):100-103.
- doi: 10.17245/jkdsa.2004.4.2.100
Spinal muscular atrophies are inherited neurodegenerative disorders affecting anterior horn cells. There are various problems, especially weakness of respiratory muscle and abnormal reaction to muscle relaxants during the general anesthesia.... -
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- Mitochondrial Respiratory Complex I Deficiency Simulating Spinal Muscular Atrophy
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Lee JS, Ahn MS, Ryu KH, Hwang JS, Jung JW, Kim SH
- KMID: 2329585
- J Korean Child Neurol Soc.
- 2006 Nov;14(2):316-321.
Two female patients with clinical features resembling spinal muscular atrophy are introduced. Patient 1 presented with hypotonia and proximal weakness of extremities at the age of 4 months. The electromyography... -
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- Two cases of spinal muscular atrophy type 1 with extensive involvement of sensory nerves
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Lee R, Chung S, Koh SE, Lee IK, Lee J
- KMID: 1494528
- Korean J Pediatr.
- 2008 Dec;51(12):1350-1354.
- doi: 10.3345/kjp.2008.51.12.1350
Spinal muscular atrophy (SMA) is an autosomal recessive disease characterized by diffuse proximal and distal weakness due to deletion of the survival motor neuron (SMN) gene localized on chromosome 5... -
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- Clinical Classification of Spinal Muscular Atrophy
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Bang MS, Park JW, Park IC
- KMID: 2178712
- J Korean Acad Rehabil Med.
- 2003 Feb;27(1):38-42.
OBJECTIVE: To describe the classification and prognosis of the patients with spinal muscular atrophy (SMA). METHOD: The medical records of thirty one patients, who were diagnosed as SMA by electromyography... -
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- Two Case Reports of Spinal Muscular Atrophy(SMA) Confirmed by Molecular Genetic Studies
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Woo HY, Choi KM, Lee MH, Kim BJ, Kim HS, Kim JW
- KMID: 2225956
- Korean J Clin Pathol.
- 2000 Jun;20(3):342-348.
We present two cases of the patients with spinal muscular atrophy(SMA) confirmed by molecular genetic studies. The first one is 1-year-old female child with SMA type II(Dubowitz disease) who visited... -
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- Update of Therapeutic Clinical Trials for Amyotrophic Lateral Sclerosis
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Kim NH, Lee MO
- KMID: 2225214
- Korean J Clin Neurophysiol.
- 2015 Jun;17(1):1-16.
- doi: 10.14253/kjcn.2015.17.1.1
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease that is characterized by progressive death of motor neurons in the cortex, brainstem, and spinal cord. Until now, many treatment strategies... -
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- Nusinersen as a Therapeutic Agent for Spinal Muscular Atrophy
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Li Q
- KMID: 2471912
- Yonsei Med J.
- 2020 Apr;61(4):273-283.
- doi: 10.3349/ymj.2020.61.4.273
The reduction of survival motor neuron (SMN) protein causes spinal muscular atrophy (SMA), an autosomal recessive neuromuscular disease. Nusinersen is an antisense oligonucleotide, approved by the FDA, which specifically binds... -
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