2008 Natural History Study of 11 Patients with SEPN1 related myopathy

This study tracked 11 patients with SEPN1 myopathy, formerly called Rigid Spine Muscualr Dystrophy. The patients were followed for an average of 7. 2 years.  All 11 patients had breathing issues detected by a drop in vital capacity (VC or FVC). Patients were able to walk an average of at least 1000 meters at an age of 13 years.  The key points emphasized in the care of people with SEPN1 related myopathy that came out of this study: early breathing issues, low weight and orthopedic issues related to spinal rigidity.
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  • Congenital Muscular Dystrophy

    A group of diseases causing muscle weakness at birth. Several defined genetic mutations cause muscles to break down faster than they can repair or grow. A child with CMD may have various neurological or physical impairments. Some children never gain the ability to walk, while others lose the ability as they grow older. Learn more...

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