congenital myasthenic syndrome 19

A congenital myasthenic syndrome characterized by autosomal recessive inheritance of defects in the neuromuscular junction resulting in generalized muscle weakness, exercise intolerance, and respiratory insufficiency that has_material_basis_in homozygous mutat

A congenital myasthenic syndrome characterized by autosomal recessive inheritance of defects in the neuromuscular junction resulting in generalized muscle weakness, exercise intolerance, and respiratory insufficiency that has_material_basis_in homozygous mutation in the COL13A1 gene on chromosome 10q22.

Signs and symptoms

• Recurrent lower respiratory tract infections
• Distal muscle weakness
• High palate
• Axial muscle weakness
• EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
• Exercise intolerance
• Increased jitter at single fiber EMG
• Feeding difficulties
• Ptosis
• Pectus carinatum

Also known as: CMS19