Conditions / Genetic
congenital myasthenic syndrome 16
info · Genetic
A congenital myasthenic syndrome that has_material_basis_in heterozygous or homozygous mutation in the SCN4A gene on chromosome 17q23.
Signs and symptoms
- Gait disturbance
- Easy fatigability
- Fatigable weakness
- Motor delay
- Ptosis
- Hyperlordosis
- High palate
- Periodic paralysis
- Bilateral ptosis
- Apnea
Also known as: CMS16; congenital myasthenic syndrome acetazolamide-responsive