title: Otospongiosis as a genetic disease. Early detection, medical management, and prevention.
abstract: Extensive research into the inmost mechanism of otospongiotic disease and an extended study of otosclerotic patients' ancestry have led the authors to a plan for prevention of this disease, which appears to be a genetic deafness with autosomal dominant inheritance and about 40 percent penetrance of genes. Progress in impedance audiometry has permitted early detection of stapedial fixation by means of systematic audiometric investigations, particularly the elicitation of stapedius reflex showing a very special pattern called the "on-off effect." The evidence supporting an enzymatic origin of the sensoringeural component of hearing loss in otosclerotic families has led us to treat otospongiotic children with very low doses of sodium fluoride, with no risk of stunting growt. We have been applying this procedure for four years to the families of stapedectomized otosclerotic patients. We believe it would be advisable to extend this type of prevention to schoolchildren by means of systematic audiometric investigations, including the elicitation of stapedius reflex to detect a possible on-off effect. We also studied sodium fluoride therapy, which derives from the enzymatic origin of the otospongiotic disease. This treatment, based on enzymogenesis inhibitors, should be given to young otospongiotic/otosclerotic patients detected by systematic audiometric investigations. Sodium fluoride could even be prescribed for otospongiotic mothers to prevent disease in their newborn children, exactly as in dental prevention. Otospongiotic/otosclerotic disease can be easily controlled by medical treatment, combined with surgery if needed. This treatment is effective thanks to early detection.
mesh_terms: D000328:Adult; D000368:Aged; D001301:Audiometry, Pure-Tone; D002648:Child; D003638:Deafness / Q000235:genetics; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D010040:Otosclerosis / Q000175:diagnosis / Q000188:drug therapy / Q000201:enzymology / Q000235:genetics* / Q000517:prevention & control; D010375:Pedigree; D012969:Sodium Fluoride / Q000627:therapeutic use; D014056:Tomography, X-Ray
chemical_list: D012969:Sodium Fluoride