Glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase (GNE) myopathy is caused by mutations in
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Acute transverse myelitis (ATM) is an upper motor neuron disease of the spinal cord, and concomitant association of peripheral polyneuropathy, particularly the axonal type, is rarely reported in children. Our cases presented with ATM complicated with axonal type polyneuropathy. Axonal type polyneuropathy may be caused by acute motor-sensory axonal neuropathy (AMSAN) or critical illness polyneuropathy and myopathy (CIPNM). These cases emphasize the need for nerve and muscle biopsies to make the differential diagnosis between AMSAN and CIPNM in patients with ATM complicated with axonal polyneuropathy.
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The dilated cardiomyopathy is the common type of cardiomyopathy, and its distinctive characteristic is the systolic dysfunction. Not many reports were issued about the efficacy of cardiac rehabilitation in patients with an advanced dilated cardiomyopathy until yet. A 50-year-old man who was diagnosed with dilated cardiomyopathy with congestive heart failure was admitted to the emergency room after a sudden collapse and a ventricular fibrillation was presented in the actual electrocardiogram. After three months, the patient participated in an 8-week cardiac rehabilitation program with electrocardiogram monitoring for 50 minutes per session at five times per week. The maximal oxygen consumption improved from 13.5 to 19.4 mL/kg/min during this time. At 3.9 metabolic equivalents, the myocardial oxygen demand decreased from 21,710 to 12,669 mmHg.bpm and the Borg's scale of perceived exertion decreased from 15 to 9. The left ventricular ejection fraction improved from 14% to 19%. So in this case report will be presented a patient after a successful cardiac rehabilitation program. Before this the patient suffered from a much more advanced dilated cardiomyopathy and was resuscitated from cardiac arrest.
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Congenital fiber type disproportion (CFTD) has been described as a form of congenital myopathy characterized by the smallness and marked predominance of type I fibers in a muscle biopsy. Only major morphological characters in CFTD are the abnormality of the size of muscle fibers and the disproportion of the type of muscle fibers. Clinical feature of CFTD is characterized by congenital hypotonia, nonprogressive muscle weakness and delayed motor milestones. The disease is sometimes associated with a myopathic pattern in the electromyography (EMG) and a slightly increased creatine kinase (CK). In this report, we describe a case of the child presented the subtle clinical symptoms of mild proximal weakness of lower extremities, who was diagnosed as CFTD not by the laboratory findings such as EMG and muscle enzyme study of CK initially but with a muscle biopsy finally. (J Korean Acad Rehab Med 2002; 26: 485-488)
Objective: To evaluate the efficacy of growth hormone in reversing glucocorticoid-induced musculoskeletal changes including osteoporosis and myopathy in rats.
Method: Experimental rats were divided into five groups and each group was composed of 10 rats. The group 1 was administered with saline, group 2 with growth hormone, group 3 with glucocorticoid, group 4 with combined dosages of growth hormone and glucocorticoid, and group 5 with glucocorticoid for 4 weeks and then growth hormone for another 4 weeks. All injections were carried out every other day for 8 weeks. The half of animals were sacrificed after 4 weeks and another half after 8 weeks in each group. The triceps surae muscle was biopsied and examined histologically for the evaluation of mean area of muscle fiber. The femur was removed and dissected for the measurement of its weight, length, and diameter. The bone mineral density of the femur was measured by a dual energy X-ray absorptiometer.
Results: Administration of growth hormone partially reversed the complications of steroid such as decrease in body weight, decrease in weight, length, diameter, and bone mineral density of femur, and decrease in mean area of muscle fiber.
Conclusion: This study indicated that growth hormone could be applied for the management of steroid-induced osteoporosis and myopathy.
We present a 50-year-old woman who sustained spastic left hemiplegia secondary to the right thalamic hemorrhage 6 years ago. She complained of persistent severe left calf pain after serial casting for the treatment of shortened plantar flexors of the left ankle. Two months later, magnetic resonance T1-weighted images showed diffuse high signal intensity involving the whole muscle bulk of the soleus and normal signal intensity of thin atrophied gastrocnemius. Needle electromyography of the soleus revealed myopathic patterns. Histologic findings of the soleus showed necrotic muscle fibers with phagocytosis, endomyseal collagen and fat deposition. We concluded that prolonged passive stretch of spastic plantar flexors of the ankle under serial casting induced soleus myopathy with segmental myonecrosis, and which developed left calf pain. Selective induction of soleus myopathy could be explained by the higher stretch tension produced by ankle dorsiflexion in the soleus compared to the gastrocnemius because of different proximal ends.
Miyoshi myopathy is a rare distal myopathy of early adult onset and autosomal recessive inheritance. Weakness usually appears between 15 and 30 years of age starting from the posterior compartment of the legs. Serum creatine kinase (CK) level is characteristically elevated to 10- to 100-fold above the normal range. Muscle biopsy shows myopathic changes without vacuoles consistent with muscular dystrophy. It has not been reported in Korea as yet, so far as we know. We report a 23-year-old female who had the typical manifestations of Miyoshi myopathy with the brief review of literatures.
Glycogen Storage Disease Type II is caused by the deficiency of acid maltase resulting in lysosomal accumulation of glycogen. There are two major clinical syndromes, a severe generalized and invariable fatal disease of infancy, and a myopathy starting in juvenile or adult life.
The clinical and laboratory findings of a patient with Glycogen Storage Disease Type II are presented. The patient, a 17-year-old male, experienced slowly progressive weakness of muscle of the pelvis shoulder girdles and trunk. Muscle biopsy showed vacuolar myopathy and electromyograph showed features of myopathy with fibrillation potentials, positive sharp waves, myotonic discharges, without clinical myotonia at rest, and polyphasic potentials on volition.
Clinical features, histopathologic and electrophysiologic findings of this disease and differential diagnosis were reviewed.
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