Conditions / Genetic
congenital myasthenic syndrome 17
info · Genetic
A congenital myasthenic syndrome that has_material_basis_in compound heterozygous mutation in the LRP4 gene on chromosome 11p11.
Signs and symptoms
- Hyporeflexia
- Gait disturbance
- Feeding difficulties
- Ptosis
- Type 1 muscle fiber predominance
- Muscle weakness
- EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
Also known as: CMS17