Spinal muscular atrophy

1
Spinal muscular atrophy

• Type II III 124,000
• 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
(No Transcript)
3
Polysomnographic tracings in SMA type III
demonstrating severe OSA
Puruckherr, M. et al. Chest 20041261705-1707
4
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

5
Relationship between sleep-related symptoms
and Sleep disorders diagnosis
Suresh et al 2005
6
(No Transcript)
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

8
(No Transcript)
9
Congenital and other non-progresseive myopathies

• Emery-Dreifuss MD, limb-girdle MD, Nemaline Rod
  myopathy, Metabolic myopathies
• SDB nocturnal desaturation, hypoventilation