congenital myasthenic syndrome 13

A congenital myasthenic syndrome characterized by autosomal recessive inheritance of proximal muscle weakness, decremental response to repeated nerve stimulation in EMG studies, and favorable response to acetylcholinesterase inhibitors that has_material_basis_

A congenital myasthenic syndrome characterized by autosomal recessive inheritance of proximal muscle weakness, decremental response to repeated nerve stimulation in EMG studies, and favorable response to acetylcholinesterase inhibitors that has_material_basis_in compound heterozygous mutation in the DPAGT1 gene on chromosome 11q23.

Signs and symptoms

• Increased jitter at single fiber EMG
• Muscle fiber tubular inclusions
• Proximal muscle weakness
• Fatigable weakness
• Hypotonia
• Motor delay
• EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
• Scoliosis
• Ptosis

Also known as: CMS13; CMSTA2; congenital myasthenic syndrome 13 with tubular aggregates; congenital myasthenic syndrome with tubular aggregates 2