The Wide Clinical Phenotype of Kennedy'S Disease

OBJECTIVE: To describe the clinical phenotype in a large population of Kennedy's disease (KD) patients. BACKGROUND: KD is a neuromuscular disease caused by a CAG repeat expansion in the androgen receptor (AR) gene. AR is broadly expressed in the body, thus AR toxicity may involve organs other than the neuromuscular system. METHODS: A clinical protocol focused on androgen-linked functions was administered to 72 Caucasian KD patients. It included: neurological exam, blood tests (glucose and lipid metabolism, hormonal status, bone metabolism), bone density test, and EKG. Urinary and sexual functions were also assessed by the means of functional scores and prostate echography. RESULTS: Mean age at onset was 46 years and lower limb weakness was reported as presenting symptom in most cases. Patients presented a tendency to overweight with sugar levels consistent with diabetes mellitus or with impaired glucose tolerance in almost 50[percnt] of cases. Thirty-eight per cent of patients had borderline blood total cholesterol levels, while 15[percnt] had an overt hyperlipidemia. Hormonal assessment was unremarkable. Bone density test showed femoral osteopenia in 45[percnt] of patients regardless of their age. No significant heart rhythm disorders were recorded. One third (37[percnt]) of patients complained urinary symptoms, which scored moderate to severe according to the functional scales and were unrelated to prostate hypertrophy. Erectile dysfunction was reported in 46[percnt] of cases. CONCLUSIONS: This study further widens the clinical spectrum of KD.