Conditions / Genetic
congenital myasthenic syndrome 20
info · Genetic
A congenital myasthenic syndrome characterized by autosomal recessive inheritance of severe hypotonia associated with episodic apnea that has_material_basis_in homozygous or compound heterozygous mutation in the SLC5A7 gene on chromosome 2q12.
Signs and symptoms
- Facial palsy
- Motor delay
- Ophthalmoparesis
- Delayed ability to walk
- Ptosis
- Dysphagia
- Apnea
- Fatigable weakness
- Muscle weakness
- Intellectual disability
Also known as: CMS20; congenital myasthenic syndrome 20 presynaptic