This study aims to identify who is affected by FSHD in New Zealand by age, gender and ethnicity. Data for 123 people will be analysed to gain greater understanding of genetic verification of FSHD and its subtypes. Data for 83 people and 47 of their significant others will be analysed to increase our understanding on living life with FSHD. The effects on people’s ability to complete everyday activities, obtain work and performance in employment, social relationships and quality of life will be explored. The study will also identify areas where services could be improved through finding out what resources people need and what they are able to access.