Kennedy's disease

[PenyB]

  Our physician is arranging for my spouse to have a blood test for Kennedy's disease. We can find very little about it on the web. While we do hasve some of the symptoms mentioned we are wondering about others. Especially : are there cognitive problems? visual problems (eyes "jumping")what about fatigueability and balance problems?
  Thanks for your help.
  P  
Dear PennyB:
Sorry to hear about your spouse.  To find out about Kennedy's disease I would look up triple repeat, spinal muscular atrophy.  This entity is a x-linked disease that involves triple repeat nucleotides of CAG.  The gene responsible encodes the androgen receptor.  This disease has an onset in the third decade or later, and usually shows fasciculation of the perioral muscles (muscle twitches) and tremor of the limbs when movements are made.  There is involvement of the facial and bulbar (swallowing, speech muscles) muscles of weakness, along with wasting of the proximal and sometimes distal muscles of the hand.  There is usually striking gynecomastia (breast like development) and decreased fertility.  From what I remember, there is not much cognitive loss, but the proximal muscle weakness (shoulders, hips) might make balancing a problem.  With the muscle wasting, there might be some fatigue issues.  I hope that your spouse does well, let us know how he does.
Sincerely,
CCF Neuro[P] MD, RPS