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

Puruckherr, M. et al. Chest 2004;126:1705-1707

Polysomnographic tracings in SMA type III demonstrating severe OSA

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)

Suresh et al 2005

Relationship between sleep-related symptoms andSleep disorders diagnosis

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]

Congenital and other non-progresseive myopathies

Emery-Dreifuss MD, limb-girdle MD, Nemaline Rod myopathy, Metabolic myopathies

SDB: nocturnal desaturation, hypoventilation