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Cardiac and Pulmonary Management Status of Duchenne Muscular Dystrophy in South Korea Based on Data From the National Health Insurance Database

Yoon JA, Park HE, Kim J, Son J, Shin YB

Background and Purpose The purpose of this study was to determine the cardiac and pulmonary management status of patients with Duchenne muscular dystrophy (DMD) in South Korea based on the...
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A Paucisymptomatic HyperCKemia Patient Diagnosed with Manifesting Female Duchenne Muscular Dystrophy Carrier

Sohn SY, Kim SY, Lee J

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Clinical Implications of Routine Monitoring of Pulmonary Function and Ventilation in Patients with Duchenne Muscular Dystrophy

Cho HE, Lee JW, Choi WA, Kang SW

Purpose: To investigate the effect of regular monitoring of pulmonary function and ventilatory status on the initiation of non-invasive ventilation (NIV) between patients who were routinely monitored before receiving NIV...
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Nanomaterial for Skeletal Muscle Regeneration

Jeong GJ, Castels H, Kang I, Aliya B, Jang YC

Skeletal muscle has an innate regenerative capacity to restore their structure and function following acute damages and injuries. However, in congenital muscular dystrophies, large volumetric muscle loss, cachexia, or aging,...
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Clinical Issues in Indication, Correction, and Outcomes of the Surgery for Neuromuscular Scoliosis: Narrative Review in Pedicle Screw Era

Kim HS, Kwon JW, Park KB

Surgical treatment for neuromuscular scoliosis has evolved with pedicle screw instrumentation and the improvement of perioperative management. We aimed to review recent papers related to posterior surgical correction with a...
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A female patient with Xp21 gene deletion syndrome

Kim J, Lee H, Na JH, Lee YM

Xp21 contiguous gene deletion syndrome is associated with complex glycerol kinase deficiency, congenital adrenal hypoplasia, Duchene muscular dystrophy, and intellectual disability. Xp21 gene deletion syndrome is X-linked recessive, so most...
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Altered Gene Expression Profiles in Neural Stem Cells Derived from Duchenne Muscular Dystrophy Patients with Intellectual Disability

Koo J, Park S, Sung SE, Lee J, Kim DS, Lee J, Lee JR, Kim NS, Lee DY

  • KMID: 2519888
  • Exp Neurobiol.
  • 2021 Aug;30(4):263-274.
  • doi: 10.5607/en21008
Intellectual disability (ID) is a neurodevelopmental disorder defined by below-average intelligence (intelligence quotient of
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Single (GCN)11/Ala11 Allele Induces Incomplete Oculopharyngeal Muscular Dystrophy Presenting Atypical Disease Course

Sung W, Kim YE, Kim SH

Oculopharyngeal muscular dystrophy (OPMD) is a late-onset myopathy caused by (GCN) expansions in the polyalanine binding protein nuclear 1 gene (PABPN1) located on chromosome 14q11. This study reports a case...
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Pathologically and Genetically Diagnosed Subclinical Symptomatic Duchenne Muscular Dystrophy Carrier: Broadened Spectrum of Clinical Phenotype

Cho MS, Lee JM

A 29-year-old female presented with an elevated level of serum creatine kinase without subjective weakness. Neurologic examination showed the subtle motor weakness of the right arm. Muscle biopsy showed dystrophic...
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Two Cases of Facioscapulohumeral Muscular Dystrophy 2 in Korea

Lee JH, Park HJ, Seong MW, Park SS, Choi YC

Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant muscular disorder characterized by weakness of facial, shoulder, abdominal, hip girdle, humeral, and anterior distal leg muscles, with descending progression from the...
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Acute Cerebral Infarction and Epilepsy in Duchenne Muscular Dystrophy

Lee GY, Cho BH, Lee KY

Duchenne muscular dystrophy (DMD) is a progressive form of muscular dystrophy caused by mutations in the dystrophin gene. Patients with DMD are more likely to have cerebral infarction than normal...
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Prenatal molecular diagnosis and carrier detection of Duchenne muscular dystrophy in Korea

Kang MJ, Seong MW, Cho SI, Park JS, Jun JK, Park SS

Purpose: Duchenne muscular dystrophy (DMD) is the most common lethal muscular dystrophy and is caused by the genetic variants of DMD gene. Because DMD is X-linked recessive and shows familial...
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Two Cases of Oculopharyngeal Muscular Dystrophy in Brothers with Ptosis and Eye Movement Disorder

Bang S, Nam S, Lee JS, Park SH, Kang MS, Kim TG, Jin KH

Purpose: To report two cases of early onset oculopharyngeal muscular dystrophy, which were suspected to be chronic progressive external ophthalmoplegia. Case summary: Case 1, a 15-year-old male and Case 2, a...
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The Mini-Mental State Examination (MMSE) as a Cognitive Screening Tool in Duchenne Muscular Dystrophy

Nardes F, Araújo APd, Ribeiro MG, Bittar M, Gomes HF

cogniPurpose: Given that intellectual disability affects 15% to 63% of boys with Duchenne muscular dystrophy (DMD), it is relevant to evaluate if the Mini-Mental State Examination (MMSE) is a reliable test...
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Esophagostomy as an Alternative to Gastrostomy for Dysphagia in Muscular Dystrophy: A Case Report

Bae JS, Kim JK, Lim JY, Jung KJ, Park HS

Many people with muscular dystrophy develop dysphagia that can result in an inability to use the oral route in severe cases. In such cases, an alternative feeding method is selected,...
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Spatiotemporal Mapping Reveals Regional Gastrointestinal Dysfunction in mdx Dystrophic Mice Ameliorated by Oral L-arginine Supplementation

Swiderski , Bindon R, Trieu J, Naim T, Schokman S, Swaminathan M, Leembruggen AJL, Hill-Yardin EL, Koopman R, Bornstein , Lynch GS

  • KMID: 2500658
  • J Neurogastroenterol Motil.
  • 2020 Jan;26(1):133-146.
  • doi: 10.5056/jnm19029
Background/Aims Patients with Duchenne muscular dystrophy exhibit significant, ongoing impairments in gastrointestinal (GI) function likely resulting from dysregulated nitric oxide production. Compounds increasing neuronal nitric oxide synthase expression and/or activity...
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Combination of extracorporeal membrane oxygenation and in-line hemofiltration for the acute hyperkalemic cardiac arrest in a patient with Duchenne muscular dystrophy following orthopedic surgery: a case report

Kim SH, Song JH, Jung KT

BACKGROUND: Duchenne muscular dystrophy (DMD) is the most common childhood muscular dystrophy that anesthesiologists can encounter in the operation room, and patients with DMD are susceptible to complications such as...
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Real-time ultrasound-guided spinal anesthesia for cesarean section in patient with severe kyphoscoliosis and Duchenne's muscular dystrophy: A case report

Kim H, Shin SI

Most elective cesarean sections are conducted under spinal anesthesia. Regional anesthesia has become the preferred technique, because general anesthesia is associated with a greater risk of maternal morbidity and mortality....
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A New Functional Scale and Ambulatory Functional Classification of Duchenne Muscular Dystrophy: Scale Development and Preliminary Analyses of Reliability and Validity

Kim J, Jung IY, Kim SJ, Lee JY, Park SK, Shin HI, Bang MS

OBJECTIVE: To develop a simplified functional scale and classification system to evaluate the functional abilities of patients with Duchenne muscular dystrophy (DMD). METHODS: A Comprehensive Functional Scale for DMD (CFSD) was...
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Novel recessive mutations of COL6A1 identified in the early severe phenotype of ullrich congenital muscular dystrophy

Park YE, Shin JH, Kim HS, Kim DS

Ullrich congenital muscular dystrophy (UCMD) is caused by mutations in one of three genes encoding collagen VI. Although UCMD usually shows an early onset, progressive weakness, contractures and hyperlaxity of...
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