Duchenne’s Muscular Dystrophy
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Duchenne’s Muscular Dystrophy
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Overview
Definition
- Muscular dystrophies are a group of progressive, hereditary myopathic disorders stemming from defects in genes required for normal function.
- Termed pseudohypertrophic muscular dystrophy, it is an X-linked recessive disorder.
- Affecting about 30/100,000.
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Epidemiology and Demographics
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Risk Factors
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Screening
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Pathophysiology & Etiology
- It is caused by a mutation in the dystrophin gene producing an abnormal sarcolemmal protein.
- Weakened sarcolemma causes membrane tears and apoptosis.
- Proximal muscles are involved especially of the neck extensors and legs.
- There is initial calf hypertrophy followed by “pseudohypertrophy” when the muscle is replaced by fat and connective tissue.
- The disease is progressive with development of contractures, scoliosis, and respiratory insufficiency.
- There is also mild mental impairment that is unrelated to the underlying disorder of muscle.
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Molecular Biology
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Genetics
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Natural History
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Diagnosis
Differential Diagnosis
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History and Symptoms
- Symptoms usually become manifest around ages 3-5 with abnormal running, walking and jumping.
- Gowers’ sign is usually evident by age 5.
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Physical Examination
Appearance of the Patient
Eyes
Ear Nose and Throat
Heart
- The heart is almost always affected by the disease but overt clinical symptoms are uncommon.
Lungs
Abdomen
Extremities
Neurologic
Other
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Laboratory Findings
Electrolyte and Biomarker Studies
- Creatinine phosphokinase (CPK) is gerally 20-100X normal at birth then decrease as muscle mass decreases.
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Electrocardiogram
- Typical ECG findings include net RS in V1 with deep, narrow Q’s in the precordial leads.
- This stems from focal transmural becrosis and fibrosis of the posterobasal wall.
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Chest X Ray
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MRI and CT
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Echocardiography or Ultrasound
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Other Imaging Findings
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Other Diagnostic Studies
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Risk Stratification and Prognosis
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Treatment
Pharmacotherapy
Acute Pharmacotherapies
- Predinisone has been shown to retard the progression of the disease.
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Chronic Pharmacotherapies
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Surgery and Device Based Therapy
Indications for Surgery
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Pre-Operative Assessment
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Post-Operative Management
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Transplantation
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Primary Prevention
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Secondary Prevention
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Cost-Effectiveness of Therapy
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Future or Investigational Therapies
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Suggested Revisions to the Current Guidelines
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Acknowledgements
The content on this page was first contributed by: Resident Report by Duane Pinto, M.D.
List of contributors:
