Conditions / Genetic
congenital myasthenic syndrome 11
info · Genetic
A congenital myasthenic syndrome characterized by autosomal recessive inheritance of low amplitude of the miniature endplate potential and current resulting from deficiency of Acetylcholine Receptor (AChR) at the endplate that has_material_basis_in homozygous
A congenital myasthenic syndrome characterized by autosomal recessive inheritance of low amplitude of the miniature endplate potential and current resulting from deficiency of Acetylcholine Receptor (AChR) at the endplate that has_material_basis_in homozygous or compound heterozygous mutation in the RAPSN gene on chromosome 11p11.
Signs and symptoms
- EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
- Easy fatigability
- Ptosis
- Weak cry
- Poor suck
- Hypotonia
- Gowers sign
- High palate
- Long face
- Feeding difficulties
Also known as: CMS Ie; CMS11; CMS1E; congenital myasthenic syndrome 11 associated with acetylcholine receptor deficiency; congenital myasthenic syndrome 1e