Article Text

I47 Recognising serious comorbidities in huntington’s disease
  1. C Clenaghan,
  2. R Cousins,
  3. J Hrastelj,
  4. S Kolli,
  5. J Haider,
  6. S Kazmi,
  7. D McLauchlan,
  8. AE Rosser
  1. Cardiff University, Cardiff and Vale University Hospital, UK


Background The course of Huntington’s disease (HD) is slowly progressive, typically over 20–30 years with little in the way of acute fluctuations, so any acute deterioration in either cognitive or motor symptoms justifies a search for an inter current illness. Here we describe three cases in which serious comorbidities were mistakenly ascribed to deterioration of HD.

Case histories Case 1: A 64 year old lady with moderately advanced HD was still able to mobilise independently. Following a fall, she was admitted to hospital with increased chorea and some weakness, and a urinary tract infection was initially suspected. She went on to develop further weakness and urinary retention and eventually turned out to have a C2-7 spinal haematoma causing cord compression. She underwent decompression with some improvement.

Case 2: A 58 year old man developed progressive weakness, reduced chorea and urinary retention following a fall. This was initially ascribed to progression of his HD and he was treated conservatively, but a subsequent MRI demonstrated complete dislocation of his cervical cord at C5. Surgery was not possible and he was treated palliatively.

Case 3: A 42 year old woman presented with vomiting, reduced oral intake, severe constipation, confusion, restlessness and insomnia. Symptoms were attributed to her HD, but turned out to be secondary to primary hyperparathyroidism and improved with treatment.

Conclusions All three cases demonstrate the diagnostic difficulties of clinical deterioration in a chronic progressive condition like HD. In all cases the initial symptoms did not trigger any suspicion of comorbidity amongst admitting physicians until further deterioration had taken place and concerns were raised by a specialist HD team. This led to delayed diagnosis which may have been associated with poor outcomes in two of the cases. Strategies for better recognising comorbidities in HD are discussed.

  • Care
  • Comorbidity

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