congenital myasthenic syndrome 3A

A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects resulting in prolonged synaptic currents and early-onset progressive muscle weakness that has_material_basis_in heterozygous mutatio

A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects resulting in prolonged synaptic currents and early-onset progressive muscle weakness that has_material_basis_in heterozygous mutation in the CHRND gene on chromosome 2q37.

Signs and symptoms

• Poor head control
• Dysphagia
• Generalized muscle weakness
• Easy fatigability
• Hypotonia
• Respiratory insufficiency
• Ptosis
• Delayed ability to sit
• Loss of ambulation
• Decreased miniature endplate potentials

Also known as: CMS3A; congenital myasthenic syndrome 3A, slow-channel