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Neuromuscular Diseases

  • Thomas W. Prior
Chapter
  • 1.7k Downloads

Abstract

Duchenne and Becker muscular dystrophies (DMD and BMD) are X-linked, allelic, neuromuscular diseases characterized by progressive muscular weakness and degeneration of skeletal muscle. Duchenne muscular dystrophy is the most common X-linked recessive lethal disease, with an incidence of approximately 1 in 3,500 newborns, and approximately one third of cases are the result of new mutations.1,2 Affected children are usually wheelchair bound by the age of 12 years. As the disease progresses, contractures increasingly develop, leading to asymmetrical spinal deformities. Most patients die at about 20 years of age due to pneumonia related to chronic respiratory insufficiency. The allelic disorder BMD has a milder clinical course and slower disease progression. Becker muscular dystrophy has been estimated to occur approximately one tenth as frequently as DMD, with an incidence of about 1 in 35,000. The majority of BMD patients initially experience difficulties between 5 and 15 years of age, although an onset in the third or fourth decade or even later can occur. By definition the affected patients remain ambulatory until 16 years of age or later, thus allowing clinical distinction from patients with DMD.

Keywords

Duchenne Muscular Dystrophy Spinal Muscular Atrophy Duchenne Muscular Dystrophy Myotonic Dystrophy Becker Muscular Dystrophy 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Springer Science+Business Media, LLC 2007

Authors and Affiliations

  • Thomas W. Prior
    • 1
    • 2
  1. 1.Department of Pathology and NeurologyColumbusUSA
  2. 2.Molecular PathologyColumbusUSA

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