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Spinal muscular atrophy

Spinal muscular atrophy. Type II& III: 1:24,000 Type II may sit but cannot walk Type III (Kugelberg-Welander disease) presents at 2-3 years of life Unrecognized nocturnal hypoxemia or hypoventilation [Bach and Wang 1995]

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Spinal muscular atrophy

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  1. Spinal muscular atrophy • Type II& III: 1:24,000 • Type II may sit but cannot walk • Type III (Kugelberg-Welander disease) presents at 2-3 years of life • Unrecognized nocturnal hypoxemia or hypoventilation [Bach and Wang 1995] • Central apnea, mixed apnea, hypopnea, REM-related hypoxemia or hypoventilation [Manni et al 1993] • Nocturnal ventilation: improve rib-cage development, lung growth, daytime function

  2. Polysomnographic tracings in SMA type III demonstrating severe OSA Puruckherr, M. et al. Chest 2004;126:1705-1707

  3. Duchenne Muscular Dystrophy (DMD) • X-linked recessive inheritance : 1: 3500 in male • DMD and Becker MD (allelic): Mutations in the Xp21 • Dystrophin: 5 isoforms • SDB can present early in life and can not reliably be predicted from PFT [Smith et al 1988] • Obstructive apnea, central apnea, paradoxical breathing, hypoventilation, non-apneic nocturnal hypoxia [Khan and Heckmatt 1994]

  4. Relationship between sleep-related symptoms and Sleep disorders diagnosis Suresh et al 2005

  5. Myotonic Dystrophy • Congenital myotonic dystrophy: AD, hypotonia, facial diplegia, limb contracture, sucking & swallowing problem, recurrent aspiration • SDB: Central apnea, mixed apnea, obstructive apnea, REM-related hypoxia, hypoventilation [Guilleminault et al 1978] • Hypersomnolence • 33% of patients, correlate with muscle impairment [Laberge et al 2004] • Hypersomnia with REM onset [Park and Radtke 1995] • Correction of hypoventilation does not always improve this symptom [Coccagna et al 1982] • Response to stimulant meds; methylphenidate [Meche et al 1986] , modafinil [Mac Donald et al 2002]

  6. Congenital and other non-progresseive myopathies • Emery-Dreifuss MD, limb-girdle MD, Nemaline Rod myopathy, Metabolic myopathies • SDB: nocturnal desaturation, hypoventilation

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