congenital myasthenic syndrome 12

A congenital myasthenic syndrome characterized by autosomal recessive inheritance of onset of proximal muscle weakness in the first decade that generally responds well to acetylcholinesterase inhibitor treatment that has_material_basis_in homozygous or compoun

A congenital myasthenic syndrome characterized by autosomal recessive inheritance of onset of proximal muscle weakness in the first decade that generally responds well to acetylcholinesterase inhibitor treatment that has_material_basis_in homozygous or compound heterozygous mutation in the GFPT1 gene on chromosome 2p13.

Signs and symptoms

• Ragged-red muscle fibers
• Motor delay
• Proximal muscle weakness
• EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
• Retinoschisis
• Facial palsy
• Easy fatigability
• Fatigable weakness
• Muscle spasm
• Gowers sign

Also known as: CMS12; congenital myasthenia 12 with tubular aggregates