The symptoms and signs of familial dysautonomia were first gathered into a clinical entity by Riley et al. in 1949. A review by Riley and Moore published in 1966 reveals how much has since been elucidated about the condition and how much still remains obscure. Most of the cases reported come from the USA, though the majority of the patients are of Jewish extraction and have ancestors who come f...

BACKGROUND Patients with familial dysautonomia (FD) manifest episodic hyperhidrosis despite the reduction of sudomotor fibres and sweat glands associated with this autonomic neuropathy. We assessed peripheral sudomotor nerve fibre and sweat gland function to determine if this symptom was due to peripheral denervation hypersensitivity. METHODS In 14 FD patients and 11 healthy controls, direct ...

Hereditary Sensory and Autonomic Neuropathies (HSANs) compose a heterogeneous group of genetic disorders characterized by sensory and autonomic dysfunctions. Familial Dysautonomia (FD), also known as HSAN III, is an autosomal recessive disorder that affects 1/3,600 live births in the Ashkenazi Jewish population. The major features of the disease are already present at birth and are attributed t...