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Consensus-Based Care Recommendations for Pulmonologists Treating Adults with Myotonic Dystrophy Type 1
Matthias Boentert1, Michelle Cao2, Daphne Mass3
1University Hospital Münster, Münster, Germany.
Respiration; International Review of Thoracic Diseases
|April 17, 2020
Summary
Myotonic dystrophy type 1 (DM1) is a progressive genetic disease causing respiratory failure. This consensus provides practical guidance for pulmonologists to improve respiratory care and reduce mortality in DM1 patients.
Area of Science:
- Neurology
- Pulmonology
- Genetics
Background:
- Myotonic dystrophy type 1 (DM1) is a severe genetic disorder affecting approximately 1 in 2,500 individuals globally.
- Respiratory muscle weakness is a common and progressive complication in DM1, often leading to respiratory failure and serving as a primary cause of mortality.
- Cardiac complications also frequently occur in DM1 patients.
Purpose of the Study:
- To provide pulmonologists, particularly those less experienced with DM1 or not part of a specialized neuromuscular clinic, with detailed diagnostic and management protocols.
- To outline respiratory testing and management strategies for baseline and follow-up care in DM1 patients.
- To adapt general respiratory knowledge to the specific challenges posed by this multiorgan disease.
Main Methods:
- A consensus-based approach was employed, involving a group of neuromuscular experts, including pulmonologists, respiratory physiotherapists, and sleep specialists.
- The Single Text Procedure methodology was utilized by 12 international respiratory therapists, pulmonologists, and neurologists experienced in DM respiratory care.
- The process generated a comprehensive document detailing respiratory care recommendations for managing DM1 patients, based on expert clinical experience.
Main Results:
- Consensus-based care recommendations were developed by 66 international clinicians experienced in DM1 treatment.
- A 7-page document providing detailed respiratory care recommendations for pulmonologists managing DM1 patients was created.
- The recommendations are based on expert opinion due to limited empirical evidence from clinical care data in DM patients.
Conclusions:
- The developed recommendations aim to enhance respiratory care for vulnerable DM1 patients.
- The guidance is intended to reduce the risk of respiratory complications and mortality associated with DM1.
- Practical indications for respiratory testing and management are provided to assist pulmonologists in caring for DM1 patients.
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