congenital myasthenic syndrome 3C

A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, low amplitude of the miniature endplate potential and current, and early-onset muscle weakness that has_material_basis_in compound

A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, low amplitude of the miniature endplate potential and current, and early-onset muscle weakness that has_material_basis_in compound heterozygous mutation in the CHRND gene on chromosome 2q37.

Signs and symptoms

• Dysphagia
• Facial palsy
• Increased muscle fatiguability
• Feeding difficulties
• Poor suck
• Hypotonia
• Motor delay
• Respiratory insufficiency
• Weakness of facial musculature
• Ptosis

Also known as: congenital myasthenic syndrome 3C associated with acetylcholine receptor deficiency