Sleep pearls, neuromuscular diseases other than ALS

1.  For SMA, do PSG if FVC is less than 65 %.  This is due to kyphoscoliosis and disphragmatic weakness.  Treatment prolongs life length.  The have CSA and OSA.  Annual screening should be done to growth .

2.  Facial issues challenge including short chins and disproportionate midfacial growth causes significant mask leak, and overwhelming constipation causes significant aerophagia.

 

Duchenne's MD

1. When DMD becomes nonambulatory and scoliosis sets in, sleep problems escalate rapidly.  Sleep physicians should by policy statement, be part of team at time of diagnosis, so families understand dyspnea related problems.  When they are in wheelchair, they should have annual PSG's.

2. They have problems with dream sleep. 

3.  An old study showed NIV early in Duchenne's leads to worse outcomes.  The data may be different in the steroid age.

 

Myotonic dystrophy, DM1 subtype.

1.  CTG repeats increase over generations and leads to EDS without strict correlation to muscle issues.  Hypersomnia has primary central reasons.

2.  Sleep fragmentation with short REM latency, decreased Rem abouts and feel tired.

3.  MSLT's resemble narcolepsy.  Not narcolepsy, since no hypnagogic hallucinations, cataplexy, and no abnormal hypocretin abnormalities.

4.  Abnormal cortisol and thyroid rhythms and dropout neurons in raphe nucleus.

5.  RCT's with modafinil have not been completed but treat with stimulants not just sleep disordered breathing

 

Postpolio syndrome

 

Worsening fatigue, severe and incapacitating is the first and prime symptom in PPS.  Its due to multiple problems.  Menopause is very important.  RLS is very common.  Fasciulations are commonly seen in PSG's Inflammation, esp. IL6 , but may not be related to sleep homeostatic mechanisms. 

 

Prior to sending to sleep lab, check a NIF and FVC, and can start NIV without sleep lab referral.

 

Spinal cord injuries

1. Sleep problems include pain, spasms, trouble breathing.

2. Higher injury leads to OSA, 48 % with increased neck thickness with unopposed parasympathetic stimulation and head position  with changes over time.

3.  Use of meds such as baclofen worsen things

4.  Involvement of SCG at C3  affects melatonin.

 

 

4.