data/diseases/huntingtons.json

{
  "id": "huntingtons",
  "full_name": "Huntington's Disease",
  "synonyms": ["Huntington's", "Huntington's disease", "HD", "Huntington disease"],
  "benchmarks": [
    {
      "key": "TFC",
      "label": "TFC",
      "range": "0-13",
      "guidance": "TFC (Total Functional Capacity) measures ability to engage in work, finances, domestic chores, activities of daily living, and care level. 13 = fully functional, 0 = total dependence. Ask the patient for their most recent score if they know it."
    },
    {
      "key": "CAG repeats",
      "label": "CAG repeats",
      "range": null,
      "guidance": "The number of CAG trinucleotide repeats in the HTT gene. ≥36 repeats is associated with Huntington's; ≥40 is fully penetrant. Many trials stratify by CAG repeat length. Ask the patient if they know their CAG repeat count from genetic testing."
    }
  ]
}