Progressive congenital myopathy with scoliosis (MYOSCO) is characterized by axial or generalized hypotonia, ptosis, skeletal muscular atrophy, and scoliosis. Dysmorphic facial features are variable.
Short stature or growth deficit can also be found. Progressive respiratory insufficiency is a major complication of muscle weakness. Cognitive development and behavior are not affected. Atrophic fibers and fibroadipose tissue replacement without myofiber necrosis can be seen on muscle biopsies. There are normal creatine kinase levels.
PAX7