Progressive sensory loss in familial dysautonomia.
Clinical variability in sensory impairment was demonstrated among 75 patients with familial dysautonomia. Older patients had a greater tendency toward increased dysfunction in pain sensation, joint position and Romberg's sign, and vibratory sense. Significant worsening with increased age was supported by retesting of 53 patients after a five-year interval. Sensory and motor axon loss were indicated by electrodiagnostic testing of peripheral nerves and abnormal cortical somatosensory evoked potentials. Familial dysautonomia is a hereditary disease with variable penetrance which involves both failure of intrauterine development of neurons and their postnatal maintenance.
D000293:Adolescent; D000328:Adult; D000367:Age Factors; D002648:Child; D002675:Child, Preschool; D004402:Dysautonomia, Familial / Q000503:physiopathology*; D004568:Electrodiagnosis; D005071:Evoked Potentials; D005150:Facial Hemiatrophy / Q000503:physiopathology; D006801:Humans; D008137:Longitudinal Studies; D012677:Sensation / Q000502:physiology*