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Neuromuscular Diseases

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Molecular Pathology in Clinical Practice

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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.

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Author information

Authors and Affiliations

  1. Department of Pathology and Neurology, Columbus, OH, 43210, USA

    Thomas W. Prior PhD (Professor and Director)

  2. Molecular Pathology, Columbus, OH, 43210, USA

    Thomas W. Prior PhD (Professor and Director)

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  1. Thomas W. Prior PhD
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Editors and Affiliations

  1. Department of Pathology and Laboratory Medicine, Weill Medical College of Cornell University and New York Presbyterian Hospital, New York, NY, 10021, USA

    Debra G. B. Leonard MD, PhD (Professor and Vice Chair for Laboratory Medicine) (Professor and Vice Chair for Laboratory Medicine)

  2. Hematology, Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA, 19104, USA

    Adam Bagg MD (Director) (Director)

  3. Department of Pathology and Laboratory Medicine, Emory University Hospital, Atlanta, GA, 30322, USA

    Angela M. Caliendo MD, PhD (Vice Chair and Associate Professor) (Vice Chair and Associate Professor)

  4. Northwestern University Feinberg School of Medicine, Evanston, IL, 60201

    Karen L. Kaul MD, PhD (Professor) (Professor)

  5. Department of Pathology and Laboratory Medicine, Evanston Northwestern Healthcare, Evanston, IL, 60201, USA

    Karen L. Kaul MD, PhD (Professor) (Professor)

  6. Molecular Pathology Laboratory, Department of Pathology and Laboratory Medicine, University of Pennsylvania Health System, Philadelphia, PA, 19104, USA

    Vivianna M. Van Deerlin MD, PhD (Director) (Director)

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© 2007 Springer Science+Business Media, LLC

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Prior, T.W. (2007). Neuromuscular Diseases. In: Leonard, D.G.B., Bagg, A., Caliendo, A.M., Kaul, K.L., Van Deerlin, V.M. (eds) Molecular Pathology in Clinical Practice. Springer, New York, NY. https://doi.org/10.1007/978-0-387-33227-7_7

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  • DOI: https://doi.org/10.1007/978-0-387-33227-7_7

  • Publisher Name: Springer, New York, NY

  • Print ISBN: 978-0-387-33226-0

  • Online ISBN: 978-0-387-33227-7

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