congenital myasthenic syndrome 8

A congenital myasthenic syndrome characterized by autosomal recessive inheritance of prominent defects of both the pre- and postsynaptic regions and muscle weakness that has_material_basis_in homozygous or compound heterozygous mutation in the AGRN gene on chr

A congenital myasthenic syndrome characterized by autosomal recessive inheritance of prominent defects of both the pre- and postsynaptic regions and muscle weakness that has_material_basis_in homozygous or compound heterozygous mutation in the AGRN gene on chromosome 1p.

Signs and symptoms

• Ptosis
• Difficulty running
• Weakness of facial musculature
• EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
• Easy fatigability
• Narrow chest
• Proximal muscle weakness
• High palate
• Respiratory insufficiency

Also known as: CMS8; congenital myasthenic syndrome 8 with pre- and postsynaptic defects; congenital myasthenic syndrome due to agrin deficiency