congenital myopathy 15

A congenital myopathy that is characterized by symptom onset soon after birth and that has_material_basis_in heterozygous mutation in the TNNC2 gene on chromosome 20q13. Affected infants are hypotonic and have severe respiratory insufficiency and feeding probl

A congenital myopathy that is characterized by symptom onset soon after birth and that has_material_basis_in heterozygous mutation in the TNNC2 gene on chromosome 20q13. Affected infants are hypotonic and have severe respiratory insufficiency and feeding problems, sometimes requiring mechanical ventilation or tube feeding.

Signs and symptoms

• Weakness of facial musculature
• Muscle weakness
• Fatty replacement of skeletal muscle
• Motor delay
• Reduced forced vital capacity
• Osteopenia
• Polyhydramnios
• Hypotonia
• Vocal cord paralysis
• Waddling gait