Conditions / Genetic
congenital myasthenic syndrome 22
info · Genetic
A congenital myasthenic syndrome characterized by neonatal hypotonia, neonatal feeding problems, and nasal dysarthria and that has_material_basis_in homozygous or compound heterozygous mutation in the PREPL gene on chromosome 2p21.
Signs and symptoms
- Tented upper lip vermilion
- Feeding difficulties
- Hypotonia
- Ptosis
- Waddling gait
- Proximal muscle weakness
- Short stature
- Motor delay
- Decreased response to growth hormone stimulation test
- Muscle weakness