congenital myasthenic syndrome 3B

A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects resulting in rapid decay in endplate current and a failure to reach the threshold for depolarization and early onset progressive mu

A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects resulting in rapid decay in endplate current and a failure to reach the threshold for depolarization and early onset progressive muscular weakness that has_material_basis_in homozygous or compound heterozygous mutation in the CHRND gene on chromosome 2q37.

Signs and symptoms

• Easy fatigability
• Feeding difficulties
• Fatigable weakness
• Hypotonia
• Respiratory insufficiency
• Ptosis
• Ophthalmoplegia
• Weak cry
• Facial palsy
• Neonatal hypotonia

Also known as: CMS3B; congenital myasthenic syndrome 3B, fast-channel