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Spinal Muscular Atrophy Type 2 in Siblings

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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A Case of Werdnig Hoffmann Disease

Kim WJ, Lee DK, Whang KT

  • KMID: 1676128
  • J Korean Pediatr Soc.
  • 1985 Jan;28(1):103-106.
No abstract available.
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One Case of Acute Werdnig-Hoffmann Disease

Na DK, Cho KS, Jo JD

  • KMID: 1699223
  • J Korean Pediatr Soc.
  • 1983 May;26(5):510-515.
No abstract available.
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A Case of Werdnig-Hoffmann Disease

Hwang OJ, Lee KH, Choi HJ, Chung WK

  • KMID: 2104039
  • J Korean Pediatr Soc.
  • 1989 Feb;32(2):289-296.
No abstract available.
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Two Cases of Werdnig-Hoffmann Disease

No authors listed

  • KMID: 1691993
  • J Korean Pediatr Soc.
  • 1991 Jan;34(1):120-125.
No abstract available.
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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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A Case of Werdnig Hoffmann Disease

Chung WY, Lee C, Hwang TG, Park IS, Lee SY, Joo JE

  • KMID: 1676286
  • J Korean Pediatr Soc.
  • 1985 Jul;28(7):726-730.
No abstract available.
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A Case of Werdnig-Hoffmann Disease

Koo CH, Lee GJ, Jung HG, Jung UJ, Huh B, Huh MH

  • KMID: 1677136
  • J Korean Pediatr Soc.
  • 1987 Oct;30(10):1170-1175.
No abstract available.
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A case of Kugelberg-Welander syndrome

Lee SY, Lee MI, Kim SW, Ahn DH, Chi JG

  • KMID: 1690957
  • J Korean Pediatr Soc.
  • 1992 Sep;35(9):1263-1266.
No abstract available.
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A Case of the Hirayama Disease in Young Male Adolescent

Yeom JS, Cho JY, Lim JY, Park CH, Woo HO, Youn HS, Park KJ, Kwak B, Kim YS

  • KMID: 2329489
  • J Korean Child Neurol Soc.
  • 2011 Dec;19(3):257-261.
In the present study, we report muscular atrophy of the right distal upper extremity in a 14-year-old boy. The disease progressed insidiously for about 2 years, and during our first...
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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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MRI Findings of Nonprogressive Juvenile Spinal Muscular Atrophy of the Distal Upper Limbs (Hirayama's Disease)

Lee IS, Lee TH, Kim HJ, Song JW, Lee SH, Choi KD, Park KP, Choi KB

PURPOSE: The aim of this study was to describe the dynamic changes of the cervical dural sac and the spinal cord during neck flexion in patients suffering from Hirayama's disease...
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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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Ultrasound Findings in Duchenne Muscular Dystrophy Disease

Na YM, Bae KJ, Kang SW, Kim MY, Kang BC

  • KMID: 2323016
  • J Korean Acad Rehabil Med.
  • 1997 Jun;21(3):572-578.
The real-time ultrasonography is a simple, noninvasive procedure that is most suitable for application in pediatric practice. The ultrasonographic appearance of various disorders in children such as progressive muscular dystrophies,...
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A Case of Wohlfart-Kugelberg-Welander Syndrome in Korean Sister

Kim MH, Park MS

  • KMID: 1662390
  • J Korean Neurol Assoc.
  • 1984 Jun;2(1):65-70.
Wohlfart et al and then Kugelberg and Welander were concerned with patients suffering from proximal limb weakness that resembled muscular dystrophy, but the muscle biopsy and EMG indicated neuronal disease....
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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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Two Cases of Hirayama Disease in a Pediatric Clinic

Ahn H, Yum MS, Kim HJ, Yeh HR, Ko TS

We report two pediatric cases with Hirayama disease—a 16-year-old boy with a left wrist drop and a 14-year-old-boy with weakness and muscle atrophy of right hand. Motor nerve conduction study...
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Association of the X-linked Androgen Receptor Leu57Gln Polymorphism with Monomelic Amyotrophy

Park YM, Lim YM, Kim DS, Lee JK, Kim KK

  • KMID: 2053264
  • Genomics Inform.
  • 2011 Jun;9(2):64-68.
Monomelic amyotrophy (MA), also known as Hirayama disease, occurs mainly in young men and manifests as weakness and wasting of the muscles of the distal upper limbs. Here, we sought...
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Juvenile Muscular Atrophy of the Upper Limb (Hirayama Disease): A case report

Lee HK, Kim DH, Jeon PS, Lee SH, Kang EY, Kim SJ

  • KMID: 2324066
  • J Korean Acad Rehabil Med.
  • 2004 Aug;28(4):387-391.
Hirayama disease is characterized by focal amyotrophy of the upper limb associated with unilateral or asymmetric bilateral muscle weakness. It occurs in young men in their late teens or early...
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Clinical Characteristics, Electrodiagnostic, and Imaging Findings of Atypical Forms of Motor Neuron Disease

Huh JP, Sung DH, Jo JM, Yoo JS, Kim BJ

  • KMID: 2326502
  • J Korean Acad Rehabil Med.
  • 2010 Dec;34(6):701-709.
OBJECTIVE: To describe the clinical characteristics, electrodiagnostic, and imaging findings of Hirayama disease (HD), late onset monomelic amyotrophy (LMA), and brachial amyotrophic diplegia (BAD). METHOD: A retrospective analysis of the medical...
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