RESPONSES TO INFUSED METHACHOLINE IN FAMILIAL DYSAUTONOMIA
Methacholine was infused into six control subjects and into five patients with familial dysautonomia. In the control group blood pressures were well maintained and a tachycardia was observed. In contrast, the blood pressures among the dysautonomic subjects usually fell and the heart rate did not increase. Parasympathetic responses such as tearing and coughing were far more marked and occurred in the dysautonomic at dosages lower than in the normal. In two cases the knee jerks, characteristically missing in dysautonomia were temporarily restored. Increased pain and normal axon flares in response to intradermal histamine were observed in two other patients indicating an improvement in sensory function. The enhanced responses to infused methacholine in dysautonomia suggest an insufficiency of parasympathetic function with effector supersensitivity. The basis for the improvement in sensory function is unknown. The simplest explanation of the observations is a deficiency in neurohumoral transmission. However, an objection to the quick acceptance of this simple hypothesis is also presented.