{ "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." } ] }