Authors: Carolina Tesi Rocha Eric P Hoffman
Publish Date: 2010/05/14
Volume: 10, Issue: 4, Pages: 267-276
Abstract
The muscular dystrophies show muscle degeneration and regeneration necrotizing myopathy on muscle biopsy typically associated with elevated serum creatine kinase and muscle weakness In 1986 the first causative gene was identified for the most prevalent and bestcharacterized form of muscular dystrophy Duchenne muscular dystrophy Over the past 25 years the number of other genes determined to cause different subtypes has grown rapidly This review gives a synopsis of the 45 genetically defined types of muscular dystrophies and describes the clinical pathologic and molecular aspects of each disease DNA diagnosis remains the most sensitive and specific method for differential diagnosis but molecular diagnostics can be expensive and complex because of multiple genes at multiple testing facilities and reimbursement may be challenging to obtain However emerging DNA sequencing technologies eg singlemolecule thirdgeneration sequencing units promise to dramatically reduce the complexity and costs of DNA diagnostics Treatment for nearly all forms remains supportive and is aimed at preventing complications However several promising approaches have entered clinical trials providing tangible hope that quality of life will improve for many patients in the near future
Keywords: