Conditions / Genetic
congenital myasthenic syndrome 15
info · Genetic
A congenital myasthenic syndrome characterized by onset of progressive fatigable proximal muscle weakness in childhood that has_material_basis_in compound heterozygous mutation in the ALG14 gene on chromosome 1p21.
Signs and symptoms
- Increased jitter at single fiber EMG
- Fatigable weakness
- EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
- Multiple joint contractures
- Gait disturbance
- Frequent falls
- Ptosis
- Anti-neuromuscular Junction acetylcholine receptor antibody positivity
Also known as: CMS15; congenital myasthenic syndrome 15 without tubular aggregates