COMPARATIVE STUDY
JOURNAL ARTICLE

Progressive sensory loss in familial dysautonomia

F B Axelrod, K Iyer, I Fish, J Pearson, M E Sein, N Spielholz
Pediatrics 1981, 67 (4): 517-22
7254974
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.

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