congenital myopathy 13

A congenital myopathy that is characterized by congenital weakness, arthrogryposis, cleft palate, ptosis, myopathic facies, short stature, kykphoscoliosis, talipes deformities and susceptibility to malignant hyperthermia provoked by anesthesia and that has_mat

A congenital myopathy that is characterized by congenital weakness, arthrogryposis, cleft palate, ptosis, myopathic facies, short stature, kykphoscoliosis, talipes deformities and susceptibility to malignant hyperthermia provoked by anesthesia and that has_material_basis_in homozygous mutation in the STAC3 gene on chromosome 12q13.

Signs and symptoms

• Hypotonia
• Fatty replacement of skeletal muscle
• Motor delay
• Gowers sign
• Weakness of facial musculature
• Downturned corners of mouth
• High palate
• Muscle weakness
• Proximal muscle weakness
• Scoliosis

Also known as: Bailey-Bloch congenital myopathy; Native American myopathy; STAC3 disorder