Anatom3D
ENCZDE
Download

Muscular dystrophy

Dystrophia musculorum progressiva · Svalová dystrofie

What it is

Inherited faults in muscle structure proteins; Duchenne is the severest form.

Symptoms & signs

  • Progressive weakness
  • difficulty climbing stairs
  • calf pseudohypertrophy
  • falls
  • cardiac and respiratory involvement

🚩 Get help if…

  • call 112 / 911 now Breathing hard, blue lips or very drowsy
  • call 112 / 911 now Chest pain, fainting or a racing heartbeat
  • see a doctor soon Morning headaches and daytime sleepiness (weak breathing at night)
  • see a doctor soon Chest infection, or a cough too weak to clear phlegm

Where it strikes

Medical treatment

  • Corticosteroids slow decline
  • ACE inhibitors for the heart
  • non-invasive ventilation
  • physiotherapy and orthoses
  • exon-skipping drugs — US-approved on dystrophin levels; clinical benefit unproven, refused in the EU
  • Micro-dystrophin gene therapy (delandistrogene) — US-approved; phase 3 missed its main goal, fatal liver injury reported mixed evidence

Natural & lifestyle

  • Stretching to prevent contractures
  • gentle non-resistive exercise
  • nutritional support
  • bone protection

Emerging & experimental

  • CRISPR exon editing
  • myostatin inhibition
  • utrophin upregulation

Alternative, off-label & anecdotal

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

  • Creatine — small trials improve strength mixed evidence
  • Green tea extract and coenzyme Q10 — small studies early / small studies
  • Stem-cell clinics abroad — unproven and costly anecdotal / traditional

ICD codes