• Annals of Clinical Neurophysiology
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• 제8권1호
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• pp.98-101
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• 2006

Nemaline myopathy is one of the congenital myopathy, which is characterized by histological findings of nemaline bodies (rods) and type 1 fiber hypotrophy and predominance. It can be classified into three forms according to the age of onset and clinical features: congenital form, childhood-onset form, and adult-onset form. We report an 18-year-old patient with generalized muscle weakness and dysmorphic features who was diagnosed as typical childhood-onset nemaline myopathy.

• Neonatal Medicine
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• 제28권2호
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• pp.89-93
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• 2021

Nemaline myopathy is a genetically heterogeneous neuromuscular disorder and one of the most common congenital myopathies. The clinical manifestations usually vary depending on the age of onset. Neonatal nemaline myopathy has the worst prognosis, primarily due to respiratory failure. Several genes associated with nemaline myopathy have been identified, including NEB, ACTA1, TPM3, TPM2, TNNT1, CFL2, KBTBD13, KLHL40, KLHL41, LMOD3, and KBTBD13. Here, we report a neonatal Korean female patient with nemaline myopathy carrying compound heterozygous mutations in the gene KLHL40 as revealed using next generation sequencing (NGS). The patient presented with postnatal cyanosis, respiratory failure, dysphagia, and hypotonia just after birth. To identify the genetic cause underlying the neonatal myopathy, NGS-based gene panel sequencing was performed. Compound heterozygous pathogenic variants were detected in KLHL40: c.[1405G>T];[1582G>A] (p. [Gly469cys];[Glu528Lys]). NGS allows quick and accurate diagnosis at a lower cost compared to traditional serial single gene sequencing, which is greatly advantageous in genetically heterogeneous disorders such as myopathies. Rapid diagnosis will facilitate efficient and timely genetic counseling, prediction of disease prognosis, and establishment of treatments.

• Annals of Clinical Neurophysiology
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• 제23권1호
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• pp.53-55
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• 2021

Congenital myasthenic syndromes (CMSs) are rare genetic disorders characterized by weakness and fatigue resulting from impaired neuromuscular transmission. Genetic testing can confirm the diagnosis for some types of CMS; however, variations in genotype, clinical phenotypes, age at disease onset, and responses to treatment make diagnosis very difficult. Here we present two adult patients who had significant decremental responses in repetitive nerve stimulation testing and multi-minicore pathology, and who responded to treatment with a cholinesterase inhibitor.

• Annals of Clinical Neurophysiology
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• 제16권2호
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• pp.81-85
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• 2014

Primary metabolic myopathy as a type of congenital myopathies was first described by McArdle in 1951. Glycogen storage disease is a disease caused by genetic mutations involved in glycogen synthesis, glycogenolysis or glycolysis. Several types of glycogen storage disease are known to cause metabolic myopathies. We report a case of adult onset metabolic myopathy with glycogen storage.

• Journal of Chest Surgery
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• 제39권9호
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• pp.725-728
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• 2006

6개월 남아와 30개월 여아가 호흡곤란을 주소로 내원하였다. 이들은 모두 선천성 근질환을 진단 받았으며 반복적인 폐렴의 과거력이 있었고 흉부방사선촬영상 횡격막성 내장탈출을 관찰할 수 있었다. 근질환을 가진 환아에 있어서 일반적인 개흉술을 시행할 경우 환아의 술 후 합병증의 발생 위험이 높다고 판단되어 흉강경을 이용한 주름성형술을 시행하였다. 두 환아는 각각 수술 후 17일, 24일째 퇴원하였으며 현재 외래에서 경과 관찰 중이다. 본원에서는 선천성 근질환을 가진 환아를 대상으로 흉강경을 이용한 주름성형술 2예를 체험하였기에 보고하는 바이다.

• Journal of Genetic Medicine
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• 제13권1호
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• pp.51-54
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• 2016

Centronuclear myopathy (CNM) is a rare congenital myopathy that is pathologically characterized by the centrally located nuclei in most of the muscle fibers. On clinical examination, dynamin 2 (DNM2)-related CNM typically shows distal dominant muscle atrophy, ptosis, ophthalmoplegia, and contracture. The reported cases of CNM in Caucasian studies show a high prevalence rate of early-onset ptosis and ophthalmoplegia and correlated with the severity of the disease. However, Asian reports show a low prevalence and late-onset ocular symptoms in DNM2-related CNM patients. p.R465W is one of the most commonly found mutations in Western countries, and all the cases showed ocular symptoms. The proband and his daughter had no ocular symptoms despite harboring the same p.R465W mutation. This family makes us speculate that ocular symptoms in DNM2-related CNM are influenced by ethnic background. In addition, this is the first familial case of DNM2-related CNM in Korea.

• Clinical and Experimental Pediatrics
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• 제56권3호
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• pp.139-142
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• 2013

X-linked recessive myotubular myopathy (XLMTM) is a severe congenital muscle disorder caused by mutations in the MTM1 gene and characterized by severe hypotonia and generalized muscle weakness in affected males. It is generally a fatal disorder during the neonatal period and early infancy. The diagnosis is based on typical histopathological findings on muscle biopsy, combined with suggestive clinical features. We experienced a case of a newborn who required intubation and ventilator care because of profound hypotonia and respiratory difficulty. The preliminary diagnosis at the time of request for retrieval was hypoxic ischemic encephalopathy, but the infant was clinically reevaluated for generalized weakness and muscle atrophy. Muscle biopsies showed variability in fiber size and centrally located nuclei in nearly all the fibers. We detected an MTM1 gene mutation of c.1261-1C>A in the intron 10 region, and diagnosed the neonate with myotubular myopathy. The same mutation was detected in his mother.

• Annals of Clinical Neurophysiology
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• 제8권1호
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• pp.23-28
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• 2006

Background: central core disease is one of the non-progressive benign congenital myopathies characterized by the presence of cores in muscle fibers, which was originally described by Shy and Magee (1956). We describe clinical charcteristics of central core disease in a Korean family manifested by autosomal dominant pattern through three generations. Methods: Clinical, serologic, and electrophysiologic profiles were evaluated in eleven members among 22 family members through three generations. Results: Six family members were symptomatic and five were non-symptomatic. Instead of proximal muscle weakness, musculoskeletal manifestations including non-specific joint pain and stiff sense were the most frequent symptoms. Muscle biopsy performed in two symptomatic patients revealed that type I fiber showed central halo, which is charactreristics of central core disease. No remarkable findings were present in serologic study including CPK level and electromyographic findings suggesting myopathic pattern were only present in two patients among 11 symptomatic group. Conclusions: In evaluating non-specific musculoskeletal complaints from the familial members showing genetic trait, central core disease should be considered to one of the possible diagnosis.

• Annals of Clinical Neurophysiology
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• 제14권2호
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• pp.80-82
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• 2012

• Annals of Clinical Neurophysiology
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• 제22권2호
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• pp.51-60
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• 2020

Muscle pathology findings may guide the diagnosis of neuromuscular disorders since they are helpful for understanding the pathological processes causing muscle weakness and also provide significant clues for the diagnosis of muscle diseases. Recent advances in molecular genetics mean that a muscle biopsy can be omitted when diagnosing inherited muscle diseases. However, the muscle pathology can still play a role in those cases and its findings are also required when diagnosing inflammatory myopathies.