Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:Q16637 (SMA)
 8,107 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