Dystrophinopathies Differential Diagnoses

  • Author: Michelle L Mellion, MD; Chief Editor: Nicholas Lorenzo, MD   more...
 
Updated: Dec 16, 2010
 
 

Differential Diagnoses

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Contributor Information and Disclosures
Author

Michelle L Mellion, MD  Assistant Professor of Clinical Neurosciences, Warren Alpert Medical School of Brown University, Rhode Island Hospital

Michelle L Mellion, MD is a member of the following medical societies: American Academy of Neurology, American Medical Association, and Phi Beta Kappa

Disclosure: Nothing to disclose.

Coauthor(s)

Brian S Tseng, MD, PhD  Assistant Professor, Department of Neurology, Division of Pediatric Neurology, Harvard Medical School, Massachusetts General Hospital

Brian S Tseng, MD, PhD is a member of the following medical societies: Child Neurology Society

Disclosure: Nothing to disclose.

Specialty Editor Board

Paul E Barkhaus, MD  Professor, Department of Neurology, Medical College of Wisconsin; Director of Neuromuscular Diseases, Milwaukee Veterans Administration Medical Center

Paul E Barkhaus, MD is a member of the following medical societies: American Academy of Neurology, American Association of Neuromuscular and Electrodiagnostic Medicine, and American Neurological Association

Disclosure: Nothing to disclose.

Francisco Talavera, PharmD, PhD  Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Senior Pharmacy Editor, eMedicine

Disclosure: eMedicine Salary Employment

Kenneth J Mack, MD, PhD  Senior Associate Consultant, Department of Child and Adolescent Neurology, Mayo Clinic

Kenneth J Mack, MD, PhD is a member of the following medical societies: American Academy of Neurology, Child Neurology Society, Phi Beta Kappa, and Society for Neuroscience

Disclosure: Nothing to disclose.

Selim R Benbadis, MD  Professor, Director of Comprehensive Epilepsy Program, Departments of Neurology and Neurosurgery, Tampa General Hospital, University of South Florida College of Medicine

Selim R Benbadis, MD is a member of the following medical societies: American Academy of Neurology, American Academy of Sleep Medicine, American Clinical Neurophysiology Society, American Epilepsy Society, and American Medical Association

Disclosure: UCB Pharma Honoraria Speaking, consulting; Lundbeck Honoraria Speaking, consulting; Cyberonics Honoraria Speaking, consulting; Glaxo Smith Kline Honoraria Speaking, consulting; Pfizer Honoraria Speaking, consulting; Sleepmed/DigiTrace Honoraria Speaking, consulting

Chief Editor

Nicholas Lorenzo, MD  Chief Editor, eMedicine Neurology; Consulting Staff, Neurology Specialists and Consultants

Nicholas Lorenzo, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Neurology, and American College of Physician Executives

Disclosure: Nothing to disclose.

References

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Structure of the dystroglycan complex (adapted from Ozawa et al).
The molecular organization of integral and peripheral components of the dystrophin-glycoprotein complex and novel proteins involved in muscular dystrophy in skeletal muscle.
Point vs frameshift mutations. In contrast to most point mutations, which generally preserve the reading frame, frameshift mutations often lead to truncated protein products.
Dystrophic muscle (A = Gomori trichrome; B = hematoxylin and eosin [H&E] stain).
Gowers sign.
(A) Normal dystrophin staining.(B) Intermediate dystrophin staining in a patient with Becker muscular dystrophy.(C) Absent dystrophin staining in a patient with Duchenne muscular dystrophy.
 
 
 
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