data/diseases/als.json

{
  "id": "als",
  "full_name": "Amyotrophic Lateral Sclerosis",
  "synonyms": ["ALS", "Lou Gehrig's disease", "Lou Gehrig's", "motor neuron disease", "MND"],
  "benchmarks": [
    {
      "key": "ALSFRS-R",
      "label": "ALSFRS-R",
      "range": "0-48",
      "guidance": "ALSFRS-R (ALS Functional Rating Scale-Revised) measures functional status across 12 domains (speech, swallowing, handwriting, walking, breathing, etc.). 48 = fully functional, 0 = total loss of function. Ask the patient for their most recent score."
    },
    {
      "key": "FVC %",
      "label": "FVC % predicted",
      "range": "0-100%",
      "guidance": "FVC (Forced Vital Capacity) measures how much air a person can forcibly exhale — it reflects respiratory muscle strength. In ALS it is expressed as a percentage of the value expected for someone of the same age/height/sex (e.g. '72%'). Many trials require FVC ≥ 50% or ≥ 60% for enrollment. If the patient has had recent pulmonary function testing, ask for their FVC % predicted."
    },
    {
      "key": "ALS subtype",
      "label": "ALS subtype",
      "range": null,
      "guidance": "Ask whether the patient has sporadic ALS (no family history, ~90–95% of cases) or familial/genetic ALS (inherited; ~5–10% of cases). If familial, ask which gene mutation is involved if they know it (common ones: SOD1, C9orf72, FUS, TDP-43). This affects trial eligibility — many gene-targeted trials require a confirmed mutation. The patient may skip if unknown. Store as e.g. {\"ALS subtype\": \"sporadic\"} or {\"ALS subtype\": \"familial\", \"ALS gene\": \"SOD1\"}."
    }
  ]
}