congenital myopathy 10B

A congenital myopathy that is characterized by infantile- or childhood-onset myopathy, areflexia, dysphagia, and respiratory distress that usually requires nocturnal ventilation and that has_material_basis_in homozygous or compound heterozygous mutation in the

A congenital myopathy that is characterized by infantile- or childhood-onset myopathy, areflexia, dysphagia, and respiratory distress that usually requires nocturnal ventilation and that has_material_basis_in homozygous or compound heterozygous mutation in the MEGF10 gene on chromosome 5q23. Biallelic mutation in the MEGF10 gene also causes a more severe congenital myopathy with overlapping features.

Signs and symptoms

• Elevated circulating creatine kinase activity
• Difficulty climbing stairs
• Hypotonia
• Fatty replacement of skeletal muscle
• Limb muscle weakness
• Weakness of facial musculature
• Increased endomysial connective tissue
• Abnormal circulating creatine kinase activity
• Reduced forced vital capacity
• Respiratory failure