Familial Ménière's disease: clinical and genetic aspects

Abstract

AbstractBackground and purpose:Ménière's disease is not uncommon, with an incidence in Caucasians of about one in 2000. The incidence peaks in the fifth decade. Cases are usually isolated or sporadic, but in perhaps five per cent other family members are affected. We report here the clinical and genetic characteristics of a comprehensive set of familial Ménière's disease cases from the UK.Methods:Forty-six affected families were studied. All cases were diagnosed using the American Academy of Otolaryngology–Head and Neck Surgery committee on hearing and equilibrium 1995, or more stringent, criteria.Outcomes and results:Autosomal dominant inheritance with reduced penetrance was the most likely mode of inheritance overall. Apparent genetic anticipation was observed, but may also be a result of ascertainment bias given the collection strategy. There was also a slight tendency for cases to result from maternal transmission within the families in this set. The family pedigrees are presented, and the authors have also set up a website at which all the pedigrees may be viewed in greater detail.