| Main clinical features
|
early-onset muscle disorder that can manifest clinically as congenital muscular dystrophy with spinal rigidity
congenital myopathy in which relative hypotrophy of type 1 (slow twitch) muscle fibers is the principal abnormality on histology
congenital hypotonia, generalized weakness, and failure to thrive, long, thin face, scoliosis, high-arched palate, and multiple joint contractures associated to insulin resistance
respiratory insufficiency generally develops by 14 years but may occur as early as in infancy or not until the fourth decade; motor abilities remain essentially static over time even in patients with early presentation (PMID: 21670436)) |