--Botulinum inhibits the release within the nervous system of acetylcholine, the chemical that produces a bridge across synapses, where nerve cell axons and dendrites connect with each other. All forms of botulism lead to paralysis that typically starts with the muscles of the face and then spreads towards the limbs. In severe forms, botulism leads to paralysis of the breathing muscles and causes respiratory failure.
--Specific serotypes of the toxin cleave synaptosomal-associated protein (25 kDa) (SNAP-25), a protein from the soluble N-ethylmaleimide-sensitive factor attachment receptor (SNARE) family involved in vesicle fusion and mediating release of neurotransmitter, in particular acetylcholine, from axon endings.
--Cleavage of the SNARE proteins inhibits release of acetylcholine.
--Hence, botulinum toxins A, B, and E specifically cleave SNAREs, preventing "neurosecretory vesicles" from docking/fusing with the interior surface of the plasma membrane of the nerve synapse, and so block release of neurotransmitter. In inhibiting acetylcholine release, nerve impulses are blocked, causing the flaccid (sagging) paralysis of muscles characteristic of botulism (in contrast to the distinct spastic paralysis seen in tetanus).
high forehead, hypoplastic supraorbital ridges, epicanthal folds, midface hypoplasia, and a large fontanel, hepatomegaly (enlarged liver), chondrodysplasia punctata (punctate calcification of the cartilage in specific regions of the body), eye abnormalities, and renal cysts.
Newborns may present with profound hypotonia (low muscle tone), seizures, apnea, and an inability to eat