Dystrophinopathies Questions & Answers

Updated: Nov 13, 2019
  • Author: Dinesh G Nair, MD, PhD; Chief Editor: Nicholas Lorenzo, MD, MHA, CPE  more...
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Questions & Answers

Overview

What are the stages of disease progression in dystrophinopathies?

Which imaging studies are included in the workup of dystrophinopathies?

What is the role of EMG in the workup of dystrophinopathies?

What is the role of muscle biopsy in the workup of dystrophinopathies?

What are dystrophinopathies?

What are the diagnostic criteria for dystrophinopathies?

Which serum creatine phosphokinase (CPK) levels are characteristic of dystrophinopathies?

What is the role of blood smears in the workup of dystrophinopathies?

What is included in the cardiac workup of dystrophinopathies?

What types of therapies are used in the treatment of dystrophinopathies?

How are dystrophinopathies treated?

When were dystrophinopathies first identified?

What is the pathophysiology of dystrophinopathies?

What is the prevalence of dystrophinopathies?

Which patient groups have the highest prevalence of dystrophinopathies?

What is the prognosis of dystrophinopathies?

Presentation

Which clinical history findings are characteristic of dystrophinopathies?

Which physical findings are characteristic of dystrophinopathies?

What causes dystrophinopathies?

DDX

What are the differential diagnoses for Dystrophinopathies?

Workup

What is the role of lab testing in the workup of dystrophinopathies?

Which imaging findings are characteristic of dystrophinopathies?

Which EMG findings are characteristic of dystrophinopathies?

What is the role of genetic testing in the workup of dystrophinopathies?

What is the role of cardiac assessment in the workup of dystrophinopathies?

What is the role of carrier testing in the workup of dystrophinopathies?

When is muscle biopsy indicated in the workup of dystrophinopathies?

Which histologic findings are characteristic of dystrophinopathies?

Treatment

How are dystrophinopathies treated?

What is the role of corticosteroids in the treatment of dystrophinopathies?

What is the role of oxandrolone in the treatment of dystrophinopathies?

What are the protocols for use of steroids to treat dystrophinopathies?

How is cardiomyopathy treated in dystrophinopathies?

How is osteoporosis treated in dystrophinopathies?

How is muscle strength deterioration treated in dystrophinopathies?

What is included in supportive care of dystrophinopathies?

What is required for transitional care of adults with dystrophinopathies?

What is the role of gene therapy in the treatment of dystrophinopathies?

What is the role of cellular therapies in the treatment of dystrophinopathies?

What is the role of molecular therapies in the treatment of dystrophinopathies?

Which specialist consultations are beneficial to patients with dystrophinopathies?

Which activity modifications are used in the treatment of dystrophinopathies?

Medications

What is the role of medications in the treatment of dystrophinopathies?

Which medications in the drug class Corticosteroids are used in the treatment of Dystrophinopathies?