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Spinal muscular atrophy

Atrophia musculorum spinalis · Spinální svalová atrofie

What it is

The motor nerve cells of the spinal cord die for lack of the SMN protein; once the commonest genetic killer of infants, now treatable if caught early.

Symptoms & signs

  • Floppy baby, weak cry, trouble feeding (type 1)
  • never sits or walks unaided (type 2)
  • weak hips and thighs later (type 3)
  • breathing difficulty
  • preserved alert face

🚩 Get help if…

  • call 112 / 911 now Breathing fast, struggling to breathe or blue lips
  • call 112 / 911 now Choking on feeds or unable to swallow
  • see a doctor soon A floppy baby who stops moving the legs
  • see a doctor soon Chest infections that keep coming back

Where it strikes

Medical treatment

  • Newborn screening
  • nusinersen (spinal injections)
  • risdiplam (by mouth)
  • onasemnogene gene therapy
  • respiratory and nutritional support

Natural & lifestyle

  • Physiotherapy and positioning
  • chest care

Emerging & experimental

  • Combination and pre-symptomatic treatment
  • muscle-strengthening drugs (apitegromab)

Alternative, off-label & anecdotal

Approaches used outside the guidelines, with what their supporters report and what testing has found so far.

  • Valproate with carnitine — tested in trials; no benefit not confirmed in trials
  • Creatine — a trial found no benefit not confirmed in trials
  • Unregulated stem-cell clinics — unproven and costly anecdotal / traditional

ICD codes