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)

A rare complication of possible secondary dilated cardiomyopathy to Kugelberg-Welander disease was described in a 53-year-old patient with this inherent motor neuron disease, whom we diagnosed after a genetic analysis of the defective survival motor neuron gene. An association of sleep disordered breathing of Cheyne-Stokes respiration was diagnosed, which was virtually eliminated with continuous positive airway pressure via nasal mask. Considering the paucity of therapeutic options in most degenerative neuromuscular disorders, ameliorations in not only sleep quality but also cardiac function with continuous positive airway pressure have clinical implications.
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PMID:Dilated cardiomyopathy in Kugelberg-Welander disease: coexisting sleep disordered breathing and its treatment with continuous positive airway pressure. 1557 46

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