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9 hasil
Severe neonatal non-dystrophic myotonia secondary to a novel mutation of the voltage-gated sodium channel (SCN4A) gene.
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We report on a patient with a severe, rare neonatal form of non-dystrophic myotonia. The patient presented with facial dysmorphism, muscle hypertrophy, severe constipation, psychomotor delay, and frequent cold-induced episodes of myotonia and muscle weakness leading to severe hypoxia and loss of
[Disturbances of wakefulness, sleep and respiratory function in Steinert's disease].
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36 night sleep recordings were carried out on 15 patients suffering from myotonia dystrophica. 9 of these patients complained of diurnal hypersomnia. 10 patients had a disturbance of night sleep with a reduction of REM sleep sometimes associated with interruption of the recording with an increase in
Pulmonary function and electromyographic study of respiratory muscles in myotonic dystrophy.
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Ten adult myotonic dystrophy patients underwent measurements of lung function, maximal dynamic and static ventilatory efforts, and respiratory muscle electromyography (EMG). EMG studies were performed during spontaneous breathing or when subjects breathed through high inspiratory or expiratory
[Different mechanism may underlie respiratory failure of myotonic and Duchenne muscular dystrophies--a pulseoxymetric and spirometric study].
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Respiratory failure is an important cause of death in many neuromuscular diseases. We studied the relationship between nocturnal hypoxemia and respiratory muscle weakness by nocturnal pulseoxymetry and spirometry in two major hereditary myopathies, myotonic and Duchenne muscular dystrophies (MD and
Proteomic profiling of skeletal muscle plasticity.
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One of the most striking physiological features of skeletal muscle tissues are their enormous capacity to adapt to changed functional demands. Muscle plasticity has been extensively studied by histological, biochemical, physiological and genetic methods over the last few decades. With the recent
Association of peripheral neuropathy with sleep-related breathing disorders in myotonic dystrophies.
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BACKGROUND
Myotonic dystrophy (DM) type 1 and type 2 are inherited diseases characterized by myotonia and myopathy. Additional symptoms include, among others, peripheral neuropathy and sleep-related breathing disorders (SRBDs). There is growing evidence for a complex association between DM1 and DM2,
Obstructive sleep apnea in Schwartz-Jampel syndrome.
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Schwartz-Jampel syndrome (SJS) is a rare entity characterized by myotonia and skeletal abnormalities. Death and respiratory distress have previously been reported in newborns and young children with SJS. We describe a patient with SJS and snoring in whom polysomnography demonstrated obstructive
Two Adult Siblings With Myotonic Dystrophy Type 1 With Different Phenotypes Presenting With Chronic Respiratory Insufficiency and Sleep Apnea Syndrome.
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Myotonic dystrophy type 1 (DM1) is an autosomal dominant disease characterized by progressive muscle weakness and myotonia along with multiple organ system involvements. Overall, DM1 patients show reduced life expectancy, mainly due to respiratory or cardiac abnormalities. Chronic respiratory
Proteomic identification of biomarkers of skeletal muscle disorders.
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Disease-specific biomarkers play a central diagnostic and therapeutic role in muscle pathology. Serum levels of a variety of muscle-derived enzymes are routinely used for the detection of muscle damage in diagnostic procedures, as well as for the monitoring of physical training status in sports
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