Emery-Dreifuss Muscular Dystrophy Questions & Answers

Updated: May 23, 2019
  • Author: Eli S Neiman, DO, FACN; Chief Editor: Amy Kao, MD  more...
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Questions & Answers

Overview

What is Emery-Dreifuss muscular dystrophy (EDMD)?

What is the pathophysiology of Emery-Dreifuss muscular dystrophy (EDMD)?

What is the prevalence of Emery-Dreifuss muscular dystrophy (EDMD)?

What is the mortality and morbidity associated with Emery-Dreifuss muscular dystrophy (EDMD)?

What are the sexual predilections of Emery-Dreifuss muscular dystrophy (EDMD)?

At what age does Emery-Dreifuss muscular dystrophy (EDMD) typically present?

Presentation

How are contractures characterized in Emery-Dreifuss muscular dystrophy (EDMD)?

How is weakness characterized in Emery-Dreifuss muscular dystrophy (EDMD)?

Which clinical history findings are characteristic of Emery-Dreifuss muscular dystrophy (EDMD)?

Which cardiac findings are characteristic of Emery-Dreifuss muscular dystrophy (EDMD)?

How is autosomal dominant Emery-Dreifuss muscular dystrophy (EDMD) differentiated from the X-linked form?

What causes Emery-Dreifuss muscular dystrophy (EDMD)?

Workup

What is the role of lab tests in the workup of Emery-Dreifuss muscular dystrophy (EDMD)?

What is the role of EMG and NCS in the workup of Emery-Dreifuss muscular dystrophy (EDMD)?

What is the role of ECG in the workup of Emery-Dreifuss muscular dystrophy (EDMD)?

What is the role of genetic testing in the workup of Emery-Dreifuss muscular dystrophy (EDMD)?

What is the role of biopsy in the workup of Emery-Dreifuss muscular dystrophy (EDMD)?

Which histologic findings are characteristic of Emery-Dreifuss muscular dystrophy (EDMD)?

What is the role of imaging studies in the workup of Emery-Dreifuss muscular dystrophy (EDMD)?

Treatment

How is Emery-Dreifuss muscular dystrophy (EDMD) treated?

What is the role of surgery in the treatment of Emery-Dreifuss muscular dystrophy (EDMD)?

Which specialist consultations are beneficial to patients with Emery-Dreifuss muscular dystrophy (EDMD)?

Medications

What is the role of medications in the treatment of Emery-Dreifuss muscular dystrophy (EDMD)?

Follow-up

What is included in the long-term monitoring of Emery-Dreifuss muscular dystrophy (EDMD)?

When is inpatient care indicated for the treatment of Emery-Dreifuss muscular dystrophy (EDMD)?

What are the possible complications of Emery-Dreifuss muscular dystrophy (EDMD)?

What is the prognosis of Emery-Dreifuss muscular dystrophy (EDMD)?

What is included in patient education about Emery-Dreifuss muscular dystrophy (EDMD)?