Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population.

ABSTRACT: We have performed a detailed population study of patients with genetic muscle disease in the northern region of England. Our current clinic population comprises over 1100 patients in whom we have molecularly characterized 31 separate muscle disease entities. Diagnostic clarity achieved through careful delineation of clinical features supported by histological, immunological and genetic analysis has allowed us to reach a definitive diagnosis in 75.7% of our patients. We have compared our case profile with that from Walton and Nattrass' seminal study from 1954, also of the northern region, together with data from other more recent studies from around the world. Point prevalence figures for each of the five major disease categories are comparable with those from other recent studies. Myotonic

SUBMITTER: Norwood FL 

PROVIDER: S-EPMC4038491 | biostudies-literature | 2009 Nov

REPOSITORIES: biostudies-literature