• Tuberculosis and Respiratory Diseases
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• v.79 no.3
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• pp.188-192
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• 2016

Antisynthetase syndrome has been recognized as an important cause of autoimmune inflammatory myopathy in a subset of patients with polymyositis and dermatomyositis. It is associated with serum antibody to aminoacyl-transfer RNA synthetases and is characterized by a constellation of manifestations, including fever, myositis, interstitial lung disease, mechanic's hand-like cutaneous involvement, Raynaud phenomenon, and polyarthritis. Lung disease is the presenting feature in 50% of the cases. We report a case of a 60-year-old female with acute respiratory distress syndrome (ARDS), which later proved to be an unexpected and initial manifestation of anti-Jo-1 antibody-positive antisynthetase syndrome. The present case showed resolution of ARDS after treatment with high-dose corticosteroids. Given that steroids are not greatly beneficial in the treatment of ARDS, it is likely that the improvement of the respiratory symptoms in this patient also resulted from the prompt suppression of the inflammatory systemic response by corticosteroids.

• Proceedings of the Korean Society of Veterinary Pathology Conference
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• 2003.10a
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• pp.52-52
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• 2003

Calcinosis circumscripta and nutritional myopathy are rare diseases, but have been reported naturally and experimentally in dogs and cats respectively [1-3]. On rare occasions, each of them also occurs in the tongue [1, 4]. Present report describes the gross, serological and histopathological findings of calcinosis circumscripta on lingual muscle and dermis in a dog. (omitted)

• Annals of Clinical Neurophysiology
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• v.8 no.1
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• pp.6-15
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• 2006

Intravenous immunoglobulin (IVIg) is the treatment of choice for many autoimmune neuropathic disorders such as Guillain-Barre syndrome (GBS), chronic inflammatory Demyelinating neuropathy (CIDP), and multifocal motor neuropathy (MMN). IVIg is preferred because the adverse reactions are milder and fewer than the other immune-modulating methods such as steroid, other immunosuppressant such as azathioprine, and plasmapheresis. IVIg also has been used in other autoimmune neuromuscular disorders (inflammatory myopathy, myasthenia gravis, and Lambert-Eaton myasthenic syndrome) and has been known as safe and efficient agent in these disorders. Since IVIg would get more indications and be used more commonly, clinicians need to know the detailed mechanism of action, side effects, and practical points of IVIg.

• Annals of Clinical Neurophysiology
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• v.8 no.1
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• pp.16-22
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• 2006

Sporadic inclusion body myositis (s-IBM) is an aquired slowly progressive inflammatory myopathy with unknown etiology. Although light microscopic abnormalities and characteristic histopathology on muscle biopsy distinguishes from other inflammatory myopathies, vacuolated muscle fibers, intracellular amyloid deposits or tubulofilaments in electromicroscopic findings are not definite in some patients. This review shows the prominently involved muscles in s-IBM and specific or nonspecific electrophysiologic manifestations from reported data for helping the diagnosis of definite-or probable-IBM patients. In lower limbs, the quadriceps is predominantly involved, as is iliopsoas, and tibialis anterior is common. In the upper limbs, the greatest weakness is in forearm finger flexors. Finger extensors, biceps and triceps also are moderately to prominently involved. The majority of patients demonstrate polyphasic MUAPs that are short in duration. An additional striking feature is the concomitant documentation of long-duration, large-amplitude, polyphasic MUAPs. In spite of the frequent mixed myopathic-neurogenic electromyographic findings of IBM, just like that of chronic myositis, asymmetric, slowly progressive weakness of flexor digitorum profundus or quadriceps femoris muscles after age of 50 is very necessary condition for the diagnosis of IBM.

• Annals of Clinical Neurophysiology
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• v.14 no.2
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• pp.80-82
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• 2012

• Annals of Clinical Neurophysiology
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• v.22 no.2
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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.

• Annals of Clinical Neurophysiology
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• v.3 no.2
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• pp.115-121
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• 2001

The occurrence of muscle weakness in patients with sepsis or multiple organ failure managed in the intensive care unit has been recognized with increasing frequency in the last two decades. The difficulty in examining critically ill patients may explain why this complication has been only recently recognized. This weakness is due to an axonal polyneuropathy which is called critical illness polyneuropathy(CIP). It must be differentiated from myopathy or neuromuscular junction disturbance that can also occur in the intensive care setting. Neither the cause nor the exact mechanism of CIP has been elucidated. Electrophysiological studies demonstrated an acute axonal damage of the peripheral nerves. Before the recognition of CIP, these cases were usually misdiagnosed as Guillain-$Barr{\acute{e}}$ syndrome. Clinical recovery from the neuropathy is rapid and nearly complete in those patients who survive. Thus, neuropathy acquired during critical illness, although causing a delayed in weaning from ventilatory support and hospital discharge, does not worsen long-term prognosis.

• Journal of Genetic Medicine
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• v.15 no.2
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• pp.87-91
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• 2018

X-linked dominant mutations in lysosome-associated membrane protein 2 (LAMP2) gene have been shown to be the cause of Danon disease, which is a rare disease associated with clinical triad of cardiomyopathy, skeletal myopathy, and mental retardation. Cardiac involvement is a common manifestation and is the leading cause of death in Danon disease. We report a case of a 24-month-old boy with hemizygous LAMP2 mutation who presented with failure to thrive and early-onset hypertrophic cardiomyopathy. We applied targeted exome sequencing and found a novel hemizygous c.692del variant in exon 5 of the LAMP2 gene, resulting a frameshift mutation p.Thr231Ilefs*11. Our study indicates that target next-generation sequencing can be used as a fast and highly sensitive screening method for inherited cardiomyopathy.

• Annals of Clinical Neurophysiology
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• v.24 no.2
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• pp.73-78
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• 2022

Some cases of myasthenia gravis (MG) with abnormal spontaneous activity (ASA) in needle electromyography (EMG) have been reported, but the associated clinical characteristics remain to be fully elucidated. We report the case of a 36-year-old male with MG in whom ASA was observed. This study highlights that ASA may appear in needle EMG in patients with severe MG who predominantly have bulbar and/or respiratory involvement. Care is needed because this often accompanies myopathic features and can be misdiagnosed as myopathy.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.22 no.1
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• pp.21-27
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• 2022

Very long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency (VLCADD) leads to a defective 𝛽-oxidation, specifically during prolonged fasting, infection, or exercise. Patients with VLCADD usually suffer from cardiomyopathy, hypoketotic hypoglycemia, hepatic dysfunction, exercise intolerance, muscle pain, and rhabdomyolysis, and sometimes succumb to sudden death. VLCADD is generally classified into three phenotypes: severe early-onset cardiac and multiorgan failure, hypoketotic hypoglycemia, and later-onset episodic myopathy. Diagnostic evaluation comprises acylcarnitine analysis, genetic analysis, and VLCAD activity assay. In the acylcarnitine analysis, the key metabolites are C14:1, C14:2, C14, and C12:1. A C14:1 level >1 mmol/L strongly suggests VLCADD. Various treatment recommendations are available for this condition. Dietary management includes decreasing fat content, increasing medium-chain triglyceride levels, and decreasing fasting periods. Supplementation with L-carnitine is controversial. Triheptanoin (a seven-carbon fatty acid triglyceride) treatment demonstrates improvement of cardiac functions. Bezafibrate may improve the quality of life of patients with VLCAD.