title: Female sexual and pelvic floor muscles dysfunctions in familial amyloidotic polyneuropathy (FAP-Portuguese type).
abstract: OBJECTIVE
  The aim of this study was to investigate the prevalence of Sexual and Pelvic Floor Dysfunctions associated with familial type 1 Portuguese amyloid polyneuropathy (FAP). We studied women with FAP in three stages of the disease: asymptomatic women (n=12), women in the early stage of the disease (n=8) and 3 women in the most progressive stage of the disease. We hypothesize that women with FAP suffer from pelvic floor hypotonicity, which may hinder orgasmic function and as such, lead to deteriorated sexual function.
  
  
  METHODS
  Twenty-three women with FAP were studied. Clinical examinations were performed using the following scales: Clinical Evaluation Scale (CES), Visual Analog Scale of Quality of Life (VAS), Female Sexual Function Index (FSFI) and Pelvic Floor Manometry (PFM).
  
  
  RESULTS
  Of the women, 5 (21.7%) had a score of < 26 on the FSFI, suggesting sexual dysfunction, 3 of which had FAP at the most progressive stage. None of the asymptomatic women had low FSFI scores. The manometrical rates (PFM) of tonus and strength of the pelvic floor showed significant differences between groups.
  
  
  CONCLUSIONS
  Female sexual dysfunction (FSD) may occur in the initial stages of the disease but is more prevalent in women in the advanced stages of the disease. There is an increasing incidence of FSD as FAP disease progresses, namely in terms of HSDD and orgasmic sensation. In the asymptomatic group, the females revealed PFM alterations without stress urinary incontinence, which is regarded to be a discrete deterioration of pelvic floor muscle function.
authors.affiliation: Urology Department, Centro Hospitalar do Porto, Porto, Portugal. majorigo1@gmail.com
authors.forename: Mario João
authors.initials: MJ
authors.lastname: Gomes
authors.forename: Antonio
authors.initials: A
authors.lastname: Martins da Silva
authors.forename: Jesus
authors.initials: J
authors.lastname: Salinas
authors.forename: Maria Carolina
authors.initials: MC
authors.lastname: Silva
authors.forename: Arnaldo
authors.initials: A
authors.lastname: Figueiredo
authors.forename: Vitor
authors.initials: V
authors.lastname: Cavadas
authors.forename: Teresa
authors.initials: T
authors.lastname: Coelho
mesh_terms: D000328:Adult; D028227:Amyloid Neuropathies, Familial / Q000145:classification / Q000150:complications / Q000503:physiopathology*; D058070:Asymptomatic Diseases; D018450:Disease Progression; D005260:Female; D006801:Humans; D009123:Muscle Hypotonia / Q000209:etiology / Q000503:physiopathology; D017773:Pelvic Floor / Q000503:physiopathology; D012735:Sexual Dysfunction, Physiological / Q000453:epidemiology / Q000209:etiology / Q000503:physiopathology*; D020018:Sexual Dysfunctions, Psychological / Q000209:etiology; D014555:Urination Disorders / Q000209:etiology