Paroxysmal non-kinesigenic dyskinesia due to a PNKD recurrent mutation: report of two Southern European families.

Paroxysmal non-kinesigenic dyskinesia (PNKD) is an autosomal dominant disorder characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee, alcohol or menstruation. In this report we present two families with PNKD of Southern European origin carrying a PNKD recurrent mutation. Incomplete penetrance and intrafamilial variability was detected in both families.

Design and validation of a new screening instrument for lower urinary tract dysfunction: the bladder control self-assessment questionnaire (B-SAQ).

Objectives: To develop and validate a short patient self-assessment screening questionnaire: bladder control self-assessment questionnaire (B-SAQ) for the evaluation of lower urinary tract symptoms. This first validation study was undertaken amongst women.

Patients And Methods: Three hundred twenty-nine women attending general gynaecology and urogynaecology clinics completed both the B-SAQ and Kings Health questionnaire prior to medical consultation, and independent physician assessment of the presence of lower urinary tract symptoms (LUTS) and need for treatment.