Muscular Dystrophy Questions & Answers

Updated: Aug 17, 2020
  • Author: Twee T Do, MD; Chief Editor: Jeffrey D Thomson, MD  more...
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Questions & Answers

Overview

What is muscular dystrophy?

What were the first historical accounts of muscular dystrophy?

What is the role of genetics in the pathogenesis of muscular dystrophy?

What are common characteristics from all types of muscular dystrophy?

What is the goal of orthopedic management for muscular dystrophy?

What is the pathophysiology of muscular dystrophy?

What are the types of muscular dystrophy?

What is the role of genetics and dystrophin in the etiology of muscular dystrophy?

What is the incidence of muscular dystrophy in the US?

What is the global incidence of muscular dystrophy?

What is the prognosis of muscular dystrophy?

Presentation

What are the initial signs and symptoms of Duchenne muscular dystrophy (DMD)?

What are the major time points in the progression of Duchenne muscular dystrophy (DMD)?

What is the Gower sign in patients with muscular dystrophy?

What are signs of upper extremity involvement in Duchenne muscular dystrophy (DMD)?

What is the progression of Duchenne muscular dystrophy (DMD) following loss of ambulation?

What clinical findings characteristic of Duchenne muscular dystrophy (DMD)?

What are the types of muscular dystrophy?

What are complications of muscular dystrophy?

Workup

What is the role of creatine phosphokinase (CPK) determination in the evaluation of muscular dystrophy?

Which enzyme levels may be elevated in muscular dystrophy?

What is the role of multiplex polymerase chain reaction (PCR) assay in the evaluation of muscular dystrophy?

What is the role of ultrasonography in the diagnosis of muscular dystrophy?

What is the role of ECG in the evaluation of muscular dystrophy?

What is the role of pulmonary function tests (PFTs) in the evaluation of muscular dystrophy?

What is the role of electromyography (EMG) in the evaluation of muscular dystrophy?

What is the role of biopsy in the evaluation of muscular dystrophy?

Which histologic findings are characteristic of muscular dystrophy?

Treatment

What is the role of surgery in the treatment of muscular dystrophy?

What is the role of steroids in the management of muscular dystrophy?

What is the role of creatine monohydrate supplementation in the management of muscular dystrophy?

What is the role of ataluren (PTC124) in the management of muscular dystrophy?

What is the role of the biologic agents eteplirsen, golodirsen, and viltolarsen in the management of muscular dystrophy?

What is the role of gene therapy in the management of muscular dystrophy?

What are the orthopedic problems in children with muscular dystrophy?

What are the surgical modalities used in the treatment of muscular dystrophy?

What is the role of functional testing in the management of muscular dystrophy?

When is surgery indicated in the management of muscular dystrophy?

What are the categories of surgical interventions for the management of muscular dystrophy?

How is scoliosis treated in patients with muscular dystrophy?

What is included in preoperative evaluation of patients with muscular dystrophy?

What are possible complications of surgical management of muscular dystrophy?

How do steroids affect the bones in patients with muscular dystrophy?

What are the recommendations for screening and treatment for osteoporosis and in patients with muscular dystrophy?

Guidelines

What are the American Academy of Pediatrics (AAP) screening guidelines for muscular dystrophy?

What is the Centers for Disease Control and Prevention (CDC) tool for the diagnosis of muscular dystrophy?

What are the AAP and CDC guidelines for creatine phosphokinase testing in the evaluation of muscular dystrophy?

What are the CDC recommendations for management of Duchenne muscular dystrophy (DMD)?

According to CDC guidelines, how is a diagnosis of Duchenne muscular dystrophy (DMD) confirmed?

What are the CDC guidelines for pharmacologic therapy for Duchenne muscular dystrophy (DMD)?

What are the CDC guidelines for psychological assessment in patients with Duchenne muscular dystrophy (DMD)?

What are the CDC guidelines for neurocognitive assessment of patients with Duchenne muscular dystrophy (DMD)?

What are the CDC guidelines for assessment for speech and language therapy in patients with Duchenne muscular dystrophy (DMD)?

What are the CDC guidelines for assessment of autism spectrum disorders in patients with Duchenne muscular dystrophy (DMD)?

What are the CDC guidelines for assessment of caregivers of patients with Duchenne muscular dystrophy (DMD)?

What are the CDC guidelines for individualized treatment of Duchenne muscular dystrophy (DMD)?

What are the CDC recommendations for psychotherapy in the management of Duchenne muscular dystrophy (DMD)?

What are the CDC recommendations for pharmacologic intervention in the management of Duchenne muscular dystrophy (DMD)?

What are the CDC recommendations for social interaction intervention in the management of Duchenne muscular dystrophy (DMD)?

What are the CDC recommendations for care and support of patients with Duchenne muscular dystrophy (DMD)?

What are the CDC general treatment guidelines for joint contractures in patients with Duchenne muscular dystrophy (DMD)?

What are CDC recommendations for physical therapy for Duchenne muscular dystrophy (DMD)?

Which activities do the CDC recommend for aerobic conditioning and respiratory exercise in patients with Duchenne muscular dystrophy (DMD)?

What are the CDC recommendations for lower-limb contracture surgery in the early ambulatory phase of Duchenne muscular dystrophy (DMD)?

What are the indications of surgery in the late ambulatory phase of Duchenne muscular dystrophy (DMD)?

Which surgeries are performed in the late nonambulatory phase of Duchenne muscular dystrophy (DMD)?

What is included in spinal care of patients with Duchenne muscular dystrophy (DMD)?

What are the CDC guidelines for respiratory management in patients with Duchenne muscular dystrophy (DMD)?

What is the function of volume recruitment/deep lung inflation technique for the respiratory management of Duchenne muscular dystrophy (DMD)?

What are the indications for tracheostomy in the respiratory management of Duchenne muscular dystrophy (DMD)?

What are the CDC guidelines for cardiac management of Duchenne muscular dystrophy (DMD)?

What are the CDC guidelines for digestion and nutritional care of patients with Duchenne muscular dystrophy (DMD)?

What are CDC recommendations for pain management of Duchenne muscular dystrophy (DMD)?

What are the American College of Chest Physicians (ACCP) guidelines for preoperative respiratory support of patients with Duchenne muscular dystrophy (DMD)?

What are the American College of Chest Physicians (ACCP) guidelines for intraoperative respiratory support of patients with Duchenne muscular dystrophy (DMD)?

What are the American College of Chest Physicians (ACCP) guidelines for postoperative respiratory support of patients with Duchenne muscular dystrophy (DMD)?

What are CDC guidelines for surgical precautions for patients with Duchenne muscular dystrophy (DMD)?

What is the clinical algorithm for diagnosis of facioscapulohumeral muscular dystrophy (FSHD)?

What are AAN and AANEM joint treatment guidelines for facioscapulohumeral muscular dystrophy (FSHD)?

Which organizations have released treatment guidelines for congenital muscular dystrophy?

What are the three major categories of congenital muscular dystrophy?

What are rare types of congenital muscular dystrophy?

Which specialists should be included in a multidisciplinary team for the management of muscular dystrophy?

What are the key AAN/AANEM recommendations for management of congenital muscular dystrophy?

What are the AAN/AANEM recommendations for the diagnosis of congenital muscular dystrophy?

What are the AAN/AANEM treatment guidelines for congenital muscular dystrophy?

What are the AAN/AANEM treatment guidelines for respiratory complications in patients with congenital muscular dystrophy?

What are the International Standard of Care Committee treatment guidelines for respiratory complications in patients with congenital muscular dystrophy?

What are the AAN/AANEM treatment guidelines for complications from dysphagia in patients with congenital muscular dystrophy?

What are the International Standard of Care Committee recommendations for dysphagia screening and assessment in patients with congenital muscular dystrophy?

What are the recommendations for cardiac evaluation in patients with congenital muscular dystrophy?

What are the AAN/AANEM guidelines management of surgical complications of congenital muscular dystrophy?

What are the AAN/AANEM treatment guidelines for musculoskeletal complications in patients with congenital muscular dystrophy?

What are the International Standard of Care Committee recommendations for physical therapy in patients with congenital muscular dystrophy?

What are the AAN/AANEM guidelines for educational adjustments in patients with congenital muscular dystrophy?

What is included in the AAN/AANEM guidelines for the limb-girdle or distal muscular dystrophy?

What are the AAN/AANEM diagnostic guidelines for limb-girdle or distal muscular dystrophy?

What are the AAN/AANEM guidelines for referral following diagnosis of limb-girdle or distal muscular dystrophy?

What are the AAN/AANEM guidelines for monitoring and treatment of limb-girdle or distal muscular dystrophy?

Medications

Which medications are used in the treatment of Duchenne muscular dystrophy (DMD)?

Which medications in the drug class Morpholino Antisense Oligomers, Neurology are used in the treatment of Muscular Dystrophy?

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