Emery-Dreifuss Muscular Dystrophy Treatment & Management

  • Author: Glenn Lopate, MD; Chief Editor: Amy Kao, MD   more...
 
Updated: Jun 23, 2011
 

Medical Care

No specific treatment for EDMD exists, but aggressive supportive care is essential to preserve muscle activity, to provide for maximal functional ability, and to prolong life expectancy.

  • The primary concern is preventing sudden cardiac death.
    • Pacemakers should be inserted in patients with bradycardia.
    • Intra-atrial thrombus, cerebral embolization, and cardiomyopathy may still occur even in patients treated with pacemaker.
    • Cardiac transplantation should be considered in patients with progressive untreatable cardiomyopathy.
    • Ventricular arrhythmias may occur late in the disease and for this reason a cardioverter-defibrillator may be preferable to a simple pacemaker.
  • The other main concern is prevention and correction of skeletal abnormalities (contractures) and to maintain ambulation.
    • Achilles tenotomy may help stabilize ankle contractures.
    • Neck and spine contractures may benefit from surgical intervention (internal fixation with rods), but the benefit must be weighed against the risk of loss of ambulation.
  • Aggressive use of passive stretching, bracing, and orthopedic procedures allows the patient to remain independent for as long as possible.
  • As in other hereditary myopathies, a team approach including a neurologist, pulmonologist, cardiologist, orthopedic surgeon, physiatrist, physical therapist, orthotist, and counselors ensures the best possible therapy.
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Surgical Care

  • The goal is to keep the patient as mobile as possible for as long as possible.
  • Orthopedic surgery (eg, tendon release) may be needed to correct or prevent contractures and to increase range of motion.
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Consultations

  • Cardiologist: Early referral and evaluation by a cardiologist is mandatory for persons with EDMD, immediately after diagnosis. Not only is cardiac disease always present, it may manifest unexpectedly as syncope or sudden death. Typically, ECG, 24 hour Holter-monitoring, and echocardiography should be performed yearly. Treatment with a pacemaker if the patient is symptomatic or if the ECG shows significant bradycardia or rhythm disturbances can be lifesaving. However, sudden cardiac death has been reported in patients with a pacemaker, and the insertion of a defibrillator has been recommended. As many as 20% of female carriers may have significant cardiac disease and should be monitored with annual ECGs.
  • Pulmonologist
  • Orthopedic surgeon
  • Physical medicine specialist and a physical therapist
  • Orthotist
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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; Director of Neurology Clinic, St Louis ConnectCare; Consulting Staff, Department of Neurology, 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: Baxter Grant/research funds Other; Amgen Grant/research funds None

Specialty Editor Board

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: Up To Date Royalty Section Editor

Francisco Talavera, PharmD, PhD  Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Medscape 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.

Chief Editor

Amy Kao, MD  Attending Neurologist, Children's National Medical Center

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.

References

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Left: The photomicrograph is a muscle biopsy with normal emerin immunostaining. Right: The micrograph is from a patient with X-linked Emery-Dreifuss muscular dystrophy. Note the absence of nuclear staining as well as the hypertrophied and atrophied muscle fibers.
 
 
 
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