eMedicine Specialties > Neurology > Pediatric Neurology

Emery-Dreifuss Muscular Dystrophy: Follow-up

Author: Glenn Lopate, MD, Associate Professor, Department of Neurology, Division of Neuromuscular Diseases, Washington University School of Medicine; Chief of Neurology, St Louis ConnectCare, Consulting Staff, Barnes Jewish Hospital
Contributor Information and Disclosures

Updated: Jan 8, 2009

Follow-up

Further Inpatient Care

Further inpatient care may be needed for orthopedic or cardiac evaluation and treatment.

Further Outpatient Care

  • Patients with EDMD should be seen at least yearly by a neurologist and cardiologist, especially if placement of a permanent cardiac pacemaker is being considered.
  • At each visit, monitor muscle function, contractures, ability to perform activities of daily living (ADLs), and cardiac function.

Complications

  • Atrial cardiac conduction defects that manifest as syncope or sudden death are the main complications of EDMD.
  • Severe contractures can cause significant orthopedic problems.

Prognosis

  • Early cardiac pacing will prevent sudden cardiac death, which is a frequent cause of early mortality.
  • EDMD is progressive, and patients often die in mid adulthood from progressive pulmonary or cardiac failure.

Patient Education

Genetic counseling concerning the risk of cardiac disease in asymptomatic female carriers of the X-linked EDMD gene mutation can prevent sudden cardiac death in family members.

Miscellaneous

Special Concerns

Additional information can be found at the following Web sites:

 


More on Emery-Dreifuss Muscular Dystrophy

Overview: Emery-Dreifuss Muscular Dystrophy
Differential Diagnoses & Workup: Emery-Dreifuss Muscular Dystrophy
Treatment & Medication: Emery-Dreifuss Muscular Dystrophy
Follow-up: Emery-Dreifuss Muscular Dystrophy
Multimedia: Emery-Dreifuss Muscular Dystrophy
References
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References

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Further Reading

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Keywords

EDMD, Duchenne muscular dystrophy, Duchenne and Becker muscular dystrophies, nuclear envelope protein, emerin, EMD1, EMD2, lamin, lamin A/C, nesprins, F-actin, EMD gene, LMNA gene, cardiomyopathy, sudden cardiac death, hereditary myopathy, cardiac disease, bradycardia, rhythm disturbances, atrial cardiac conduction defects, syncope, contractures, pulmonary failure, heart failure

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Contributor Information and Disclosures

Author

Glenn Lopate, MD, Associate Professor, Department of Neurology, Division of Neuromuscular Diseases, Washington University School of Medicine; Chief of Neurology, St Louis ConnectCare, Consulting Staff, Barnes Jewish Hospital
Glenn Lopate, MD is a member of the following medical societies: American Academy of Neurology, American Association of Neuromuscular and Electrodiagnostic Medicine, and Phi Beta Kappa
Disclosure: Nothing to disclose.

Medical Editor

James J Riviello Jr, MD, George Peterkin Endowed Chair in Pediatrics, Professor of Pediatrics, Section of Neurology and Developmental Neuroscience, Professor of Neurology, Peter Kellaway Section of Neurophysiology, Baylor College of Medicine; Chief of Neurophysiology, Director of the Epilepsy and Neurophysiology Program, Texas Children's Hospital
James J Riviello Jr, MD is a member of the following medical societies: American Academy of Pediatrics
Disclosure: Nothing to disclose.

Pharmacy Editor

Francisco Talavera, PharmD, PhD, Senior Pharmacy Editor, eMedicine
Disclosure: Nothing to disclose.

Managing Editor

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.

CME Editor

Matthew J Baker, MD, Consulting Staff, Collier Neurologic Specialists, Naples Community Hospital
Matthew J Baker, MD is a member of the following medical societies: American Academy of Neurology
Disclosure: Nothing to disclose.

Chief Editor

Amy Kao, MD, Assistant Professor, Department of Pediatrics, Division of Pediatric Neurology, Department of Neurology, Oregon Health and Science University; Consulting Staff, Shriners Hospital for Children
Amy Kao, MD is a member of the following medical societies: American Academy of Neurology, American Academy of Pediatrics, American Epilepsy Society, and Child Neurology Society
Disclosure: Nothing to disclose.

 
 
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