Eteplirsen has been recently FDA approved for the treatment of
Duchenne muscular dystrophy: MC hereditary neuromuscular disease in children. X-linked recessive deletion of dystrophin gene ( Xp 21)- one of the largest gene C/F: More common in males. Family history present Pseudohyperophy of calf muscles Cardiac involvement Recurrent respiratory infection Proximal muscle weakness in limbs Intellectual disability 'GOWER SIGN'is positive- Gowers' sign indicates weakness of the proximal muscles, esp of the lower limb. Mx- Phase 3 trials have shown benefits from ETEPLIRSEN - FDA APPROVED
Duchenne muscular dystrophy
Spinal muscular atrophy
SSPE
AML
Other disorders of bone