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

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

4. 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] Duchenne Muscular Dystrophy (DMD)

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

7. 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]

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