congenital myasthenic syndrome 1A

A congenital myasthenic syndrome characterized by predominantly autosomal dominant inheritance of defects in postsynaptic neuromuscular junctions and early-onset progressive muscle weakness that has_material_basis_in mutation in the CHRNA1 gene on chromosome 2

A congenital myasthenic syndrome characterized by predominantly autosomal dominant inheritance of defects in postsynaptic neuromuscular junctions and early-onset progressive muscle weakness that has_material_basis_in mutation in the CHRNA1 gene on chromosome 2q.

Signs and symptoms

• Fatigable weakness
• Upper limb muscle weakness
• Hand muscle atrophy
• Type 2 muscle fiber atrophy
• Ophthalmoparesis
• Dysphagia
• Generalized muscle weakness
• Decreased size of nerve terminals
• Feeding difficulties
• Dysarthria

Also known as: CMS IIa; CMS1A; congenital myasthenic syndrome 1A, slow-channel; congenital myasthenic syndrome type IIa