Conditions / Genetic
congenital myasthenic syndrome 21
info · Genetic
A congenital myasthenic syndrome characterized by autosomal recessive inheritance of hypotonia, apneas, and feeding difficulties that has_material_basis_in homozygous or compound heterozygous mutation in the SLC18A3 gene on chromosome 10q11.
Signs and symptoms
- Ptosis
- Ophthalmoplegia
- Exercise intolerance
- Meconium ileus
- Gait disturbance
- Easy fatigability
- Feeding difficulties
- Hypotonia
- Respiratory insufficiency
- Fatigue
Also known as: CMS21; congenital myasthenic syndrome 21, presynaptic