congenital myasthenic syndrome 5

A congenital myasthenic syndrome characterized by autosomal recessive inheritance of a defect within the synapse at the neuromuscular junction resulting in prolonged synaptic currents and action potentials that has_material_basis_in homozygous or compound hete

A congenital myasthenic syndrome characterized by autosomal recessive inheritance of a defect within the synapse at the neuromuscular junction resulting in prolonged synaptic currents and action potentials that has_material_basis_in homozygous or compound heterozygous mutation in the COLQ gene on chromosome 3p25.

Signs and symptoms

• Type 2 muscle fiber atrophy
• Fatigable weakness
• Feeding difficulties in infancy
• Type 1 muscle fiber predominance
• EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
• Myopathy
• Decreased muscle mass
• Hypotonia
• Generalized hypotonia
• Hyperlordosis

Also known as: CMS Ic; CMS5; EAD; Engel congenital myasthenic syndrome; congenital myasthenic syndrome Engel type