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Clinical Scales Used in Motor Neuron Disease

Oh Si, Park JS, Sung JJ, Kim SH

Motor neuron diseases (MND) are heterogeneous spectra of disorders that that primarily affect the motor neurons (MN) resulting in motor nerve and muscle degeneration. The pathophysiological mechanisms of MN cell...
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Detection of Spinal Muscular Atrophy Using a Duplexed Real-Time PCR Approach With Locked Nucleic Acid-Modified Primers

Pan J, Zhang C, Teng Y, Zeng S, Chen S, Liang D, Li Z, Wu L

Background: Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder mainly caused by homozygous deletions that include exon 7 of the survival motor neuron 1 (SMN1) gene. A nearby...
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Carrier Frequency of Spinal Muscular Atrophy in a Large-scale Korean Population

Park JE, Yun SA, Roh EY, Yoon JH, Shin S, Ki CS

Spinal muscular atrophy (SMA) is an autosomal recessive disease characterized by progressive proximal muscle weakness and atrophy. Given the recent introduction of gene therapies, knowledge of the SMA carrier frequency...
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Rehabilitation of spinal muscular atrophy: current consensus and future direction

Yi YG, Shin HI, Jang DH

Spinal muscular atrophy (SMA) is a neuromuscular disease that requires multidisciplinary medical care, including rehabilitation management. The emergence of a genetic therapy-based approach for SMA has markedly changed the disease...
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Diagnostic Odyssey and Application of Targeted Exome Sequencing in the Investigation of Recurrent Infant Deaths in a Syrian Consanguineous Family: a Case of Spinal Muscular Atrophy with Respiratory Distress Type 1

Kim YA, Jin HY, Kim YM

Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a rare autosomal recessive disorder caused by a defect in the immunoglobulin mu binding protein 2 (IGHMBP2) gene, leading to...
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Bilateral Corneal Opacities with Galactokinase Deficiency and Spinal Muscular Atrophy

Cho SY, Kim S, Chung SK

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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Etiological Classification and Developmental Outcomes in Floppy Infants: A Single Tertiary Center Experience

Park JM, Choi YH, Lee HN, Chung HJ

PURPOSE: Floppy infants or congenital hypotonia indicates decreased muscle tone in infants secondary to abnormalities of the central or the peripheral nervous system, or both. Previous literature classified its causes...
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Clinical Characteristics of Spinal Muscular Atrophy in Korea Confirmed by Genetic Analysis

Hwang H, Lee JH, Choi YC

The objective of this study was to review the clinical characteristics of patients with spinal muscular atrophy and to emphasize the importance of performing genetic mutational analysis at initial patient...
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Genotype-Phenotype Correlation of SMN1 and NAIP Deletions in Korean Patients with Spinal Muscular Atrophy

Ahn EJ, Yum MS, Kim EH, Yoo HW, Lee BH, Kim GH, Ko TS

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...
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Clinical Experiences of Uncommon Motor Neuron Disease: Hirayama Disease

Lee KH, Choi DS, Lee YS, Kang DH

Hirayama disease, juvenile muscular atrophy of the distal upper limb, is a rare disease predominantly affecting the anterior horn cells of the cervical spinal cord in young men. This cervical...
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Local anesthesia of the temporomandibular joint to reduce pain during mouth opening for dental treatment in a patient with spinal muscular atrophy

Chi SI, Kim HJ, Seo KS, Lee JH, Chang J

Spinal muscular atrophy (SMA) is an autosomal recessive, severe neuromuscular disorder in which degeneration of alpha motor neurons in the spine progressively weakens and ultimately paralyzes the proximal muscles. It...
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Determination of SMN1 and SMN2 Copy Numbers in a Korean Population using Multiplex Ligation-dependent Probe Amplification

Yoon S, Lee CH, Lee KA

Determination of the copy number of the survival motor neuron (SMN) gene is important for detecting spinal muscular atrophy (SMA) carriers and compound heterozygous patients. Multiplex ligationdependent probe amplification (MLPA)...
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Epidural anesthesia for the patient with type IV spinal muscular atrophy: A case report

Kim SJ, Kim EJ, Min BW, Ban JS, Lee SG, Lee JH

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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Comparison between Operated Muscular Dystrophy and Spinal Muscular Atrophy Patients in terms of Radiological, Pulmonary and Functional Outcomes

Chong HS, Moon ES, Kim HS, Ankur N, Park JO, Kim JY, Kho PA, Moon SH, Lee HM, Seul NH

STUDY DESIGN: Retrospective comparative study. PURPOSE: To study and compare the surgical outcomes of muscular dystrophy (MD) and spinal muscle atrophy (SMA). OVERVIEW OF LITERATURE: There are few reports that have evaluated...
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Survival analysis of spinal muscular atrophy type I

Park HB, Lee SM, Lee JS, Park MS, Park KI, Namgung R, Lee C

PURPOSE: The life expectancy of patients with spinal muscular atrophy (SMA) type I is generally considered to be less than 2 years. Recently, with the introduction of proactive treatments, a...
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General anesthesia for a spinal muscular atrophy type I patientundergoing feeding gastrostomy: A case report

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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General anesthesia with endotracheal intubation for the patient with spinal muscular atrophy: A case report

Hong SJ, Lee JY, Kim DS

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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Two cases of spinal muscular atrophy type 1 with extensive involvement of sensory nerves

Lee R, Chung S, Koh SE, Lee IK, Lee J

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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A Case of Type III Proximal Spinal Muscular Atrophy Distinguished from Distal Spinal Muscular Atrophy: A case report

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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Intravenous Anesthesia in Spinal Muscular Atrophy: A case report

Choi YH, Gwak M, Lee YK, Lee YM, Lee DH

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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