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 Physical therapy

 Occasionally orthopaedic surgery to help correct the shortening of muscles or to improve scoliosis (Figure 1.3.6)Figure 1.3.6 Orthopaedic surgery to improve scoliosis.

 Additionally, cardiac surgery and/or surgery to repair cataracts may be required

 Corticosteroids, cardioprotective agents, antidepressants, ventilation with positive non‐invasive pressure

 Although there is no known cure, there has been notable progress in correcting the underlying genetic mutations