reducing body myopathy 1A

A myopathy that is characterized by by the presence of intracytoplasmic inclusion bodies strongly stained by menadione-linked alpha-glycerophosphate dehydrogenase in the absence of substrate, alpha-glycerophosphate, with infantile or early childhood onset, and

A myopathy that is characterized by by the presence of intracytoplasmic inclusion bodies strongly stained by menadione-linked alpha-glycerophosphate dehydrogenase in the absence of substrate, alpha-glycerophosphate, with infantile or early childhood onset, and that has_material_basis_in mutation in the FHL1 gene on chromosome Xq26.

Signs and symptoms

• Elevated circulating creatine kinase activity
• Muscle fiber intracytoplasmic reducing inclusion bodies
• Loss of ambulation
• Respiratory insufficiency due to muscle weakness
• Proximal muscle weakness
• Hyporeflexia
• Poor head control
• Scoliosis
• Flexion contracture
• Areflexia