myotonia/hypoxia

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Severe neonatal non-dystrophic myotonia secondary to a novel mutation of the voltage-gated sodium channel (SCN4A) gene.

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Ingia / Ingia

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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Ingia / Ingia

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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Ingia / Ingia

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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Ingia / Ingia

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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Ingia / Ingia

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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Ingia / Ingia

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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Ingia / Ingia

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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Ingia / Ingia

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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Ingia / Ingia

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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