Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0037315 (sleep apnea)
 8,000 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

This review aims to explain the inevitable imbalance between respiratory load, drive, and muscular force that occurs in the natural aging of Duchenne muscular dystrophy and that predisposes these patients to sleep disordered breathing (SDB). In DMD, SDB is characterized by oxygen desaturation, apneas, hypercapnia, and hypoventilation during sleep and ultimately develops into respiratory failure during wakefulness. It can be present in all age groups. Young patients risk obstructive apneas because of weight gain, secondary to progressive physical inactivity and prolonged corticosteroid therapy; older patients hypoventilate and desaturate because of respiratory muscle weakness, in particular the diaphragm. These conditions are further exacerbated during REM sleep, the phase of maximal muscle hypotonia during which the diaphragm has to provide most of the ventilation. Evidence is given to the daytime predictors of early symptoms of SDB, important indicators for the proper time to initiate mechanical ventilation.
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PMID:Sleep Disordered Breathing in Duchenne Muscular Dystrophy. 2839 69

Symptoms of sleep disordered breathing (SDB) in younger boys with DMD are often poorly perceived and/or articulated by the patients or their families. As a result it is the watchful eye of the care-provider that determines the need for early polysomnographic (PSG) assessments. The use of polysomnography without capnometry should be considered completely inadequate when it comes to diagnosis and management of SDB in these patients. The stabilization of gas exchange with non-invasive ventilation may be achieved by the use of pressure or volume support ventilation. Serial PSG assessments are recommended to assure optimal management as the patients' clinical status evolves with disease progression and the emergence of additional morbidities such as cardiomyopathies, dysphagia, and chronic aspiration.
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PMID:Sleep disordered breathing in Duchenne muscular dystrophy. 3015 79

The term neuromuscular disease (NMD) encompasses a large variety of disorders that result in abnormal muscle function. Although it may be conventional to relate the use of this term to the most common muscular diseases (Duchenne muscular dystrophy [DMD], spinal muscular atrophy [SMA], and amyotrophic lateral sclerosis, etc), it is important to extend the term to pathologies manifested by severe neurologic (brain and spinal cord) malformations and injuries. In many of these scenarios, there are common mechanisms that contribute to sleep disordered breathing (SDB) and respiratory insufficiency although comorbidities may be somewhat different. Advances in the understanding of these diseases and their natural history, and increasing availability of mechanical ventilation to these patients have improved survival. The development of novel genetic and molecular therapies (as in the cases of DMD, SMA, and X-linked myotubular myopathy) provides an opportunity to use SDB as a reasonable outcome measure while also allowing the use of polysomnography as a validation tool in the assessments of effectiveness of therapies. We seek to provide an understanding of SDB in NMDs, and in the same light, would like to begin the conversation of thinking about weaning respiratory support when possible.
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PMID:Sleep disordered breathing: Assessment and therapy in the age of emerging neuromuscular therapies. 3272 Jul 56