Therapeutic approaches for the sarcomeric protein diseases

No curative treatment currently exists for patients with skeletal myopathies caused by defects in sarcomeric proteins though symptomatic treatments including orthoses, night-time ventilation, or mechanical ventilation can provide major benefits. The molecular genetic discovery era has enabled many families to know which gene and precisely which gene defect their family, or in some cases only their affected child has. This knowledge has enormously increased the accuracy of genetic counselling and in some cases can enable prognosis, which helps families to make better-informed life decisions. However, symptomatic treatments and molecular genetics do not help the patient's skeletal muscle problems. The patients with skeletal muscle sarcomeric protein diseases, (from severely affected patients with shortened lifespan, through to the more mildly affected patients), would all benefit from more effective or curative treatments, as would their parents and families. This chapter outlines the experimental therapeutic strategies that have been investigated for other muscle diseases (predominantly the muscular dystrophies, towards which the majority of research emphasis has been focussed) and those that are beginning to be investigated for sarcomeric diseases. It analyses which of these approaches might be applicable to the different skeletal muscle sarcomeric protein diseases.