Fukuyama congenital muscular dystrophy

A congenital muscular dystrophy-dystroglycanopathy type A that is characterized by muscle weakness, failure to thrive, severe intellectual and developmental disability, impaired vision and cardiac abnormalities and has_material_basis_in mutation in the FKTN ge

A congenital muscular dystrophy-dystroglycanopathy type A that is characterized by muscle weakness, failure to thrive, severe intellectual and developmental disability, impaired vision and cardiac abnormalities and has_material_basis_in mutation in the FKTN gene that produces the fukutin protein.

Signs and symptoms

• Elevated circulating creatine kinase activity
• Retinal detachment
• Strabismus
• Hypermetropia
• Hypoplasia of the brainstem
• Flexion contracture
• Seizure
• Agenesis of corpus callosum
• Hypotonia
• Generalized hypotonia