Dopamine-responsive Dystonia - Additional Notes

Additional Notes

Diagnosis - main
  • typically referral by GP to specialist Neurological Hospital e.g. National Hospital in London.
  • very hard to diagnose as condition is dynamic w.r.t. time-of-day AND dynamic w.r.t. age of patient.
  • correct diagnosis only made by a consultant neurologist with a complete 24-hour day-cycle observation(with video/film) at a Hospital i.e. morning(day1)->noon->afternoon->evening->late-night->sleep->morning(day2).
  • patient with suspected DRD required to walk in around hospital in front of Neuro'-consultant at selected daytime intervals to observe worsening walking pattern coincident with increased muscle tension in limbs.
  • throughout the day, reducing leg-gait, thus shoe heels catching one another.
  • diurnal affect of condition: morning(fresh/energetic), lunch(stiff limbs), afternoon(very stiff limbs), evening(limbs worsening), bedtime(limbs near frozen).
  • muscle tension in thighs/arms: morning(normal), lunch(abnormal), afternoon(very abnormal), evening(bad), bedtime(frozen solid).
Diagnosis - additional
  • lack of self-esteem at school/college/University -> eating disorders in youth thus weight gains.
  • lack of energy during late-daytime (teens/adult) -> compensate by over-eating.
Other symptoms - footwear
  • excessive wear at toes, but little wear on heels, thus replacement every college term/semester.
Other symptoms - handwriting
  • near normal handwriting at infants/kindergarten (ages 3–5 school) years.
  • poor handwriting at pre-teens (ages 8–11 school) years.
  • very poor (worse) handwriting during teens (qv GCSE/A level-public exams) years.
  • bad handwriting (worsening) during post-teens (qv university exams) years.
  • very bad handwriting (still worsening) during adult (qv post-graduate exams) years.
  • worsening pattern of sloppy handwriting best observed by school teachers via termly reports.
  • child sufferer displays unhappy childhood facial expressions (depression.?)
Consequences if untreated
  • if untreated before early teens may necessitate additional corrective surgery to Achilles tendons to lengthen such tendons at age 21.
  • walking: morning(near normal), lunch(abnormal), afternoon(very abnormal), evening(bad), bedtime(almost impossible).
Mis-diagnosis conditions
  • Several: Spastic, Spastic Diaplega, Stiff-man syndrome, etc.
Temporary relief
  • power napping at lunchtime or afternoon provides temporary relief from muscle tension.
  • 1 in 2million(approx)
  • affects females more than males
  • 25 known cases in UK(pop=60m)
  • 100's known cases in USA(pop=300m)
  • few known cases in Australia(pop=30m)
  • fewer cases in New Zealand(pop=l.t.10m)
Other Aspects - marriage/parenting
  • Highly likely that condition is hereditary being on-passable to offspring but data to support this are scarce, but some evidence from USA.
Other Aspects - adult life
  • if untreated then childhood psychological development into mature adult(hood) impaired.
  • lack of success at all sports at school/.../adult->depression/disillusionment with life/etc.
  • reduced employability as an adult.
  • lack of social skills as adult from incomplete child experiences (playground interactions with both sexes).
  • lack of balance skills.
  • reduced development of leg-calf muscles to enable running skills in adulthood.
  • LevoDopa - (anhydrous) white round tablets (now discontinued)
  • Sinemet - coloured lozenge shaped tablets (current-2010)
  • Sinemet types: "62.5"=yellow; "110"=blue; "Plus"=yellow; "275"=blue.
Post-Treatment aspects - face
  • "Parkinsonian-face-mask"
  • permanent inability to convey state of mind(e.g. happy) to facial expression(e.g. smile).
  • difficult to interpret, "blank" face

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