Patterns:

• Most children with childhood-onset myotonic dystrophy have normal breathing function and few respiratory issues. However, the spectrum of severity is wide, and some children with DM1 may have significant breathing problems resulting from muscle weakness of the diaphragm, abdominal and intercostal muscles.

• Weakness is common in CDM, and respiratory failure in the neonatal period is often a presenting feature and a significant cause of morbidity.

Symptoms:

• Weakness of the inspiratory and expiratory muscles.

• Impaired clearing of secretions.

• Pulmonary infections and to aspiration of material into the lungs.

• Excessive daytime sleepiness (EDS) and respiratory failure.

• Disrupted sleep, morning headaches, apnea and snoring.

• Restless leg syndrome.

• Ineffective cough.

Diagnosis:

• Discuss the following tests with your doctor:

  • Forced vital capacity (FVC) and forced expiratory volume

  • Sniff nasal inspiratory pressure (SNIP) test

  • Nocturnal oximetry if snoring, nightly interrupted sleep, morning headaches or excessive daytime sleepiness are present

  • Peak expiratory flow during cough

  • Sleep study if symptoms of snoring, nightly interrupted sleep, morning headaches or excessive daytime sleepiness are present

  • Clearance capacity and other respiratory assessments prior to surgery

Treatment:

• Vaccinations for influenza and pneumococcus pneumonia.

• Standard medical therapy as soon as possible for respiratory infections, including respiratory cough assistance and mechanical ventilation as needed.

• Consultations from respiratory therapy and pulmonary medicine group.

• Cough assistance techniques (e.g., air stacking, abdominal thrust and cough machine).

• Noninvasive positive-pressure ventilation (NIV) for respiratory insufficiency.

• Emergency medical alert devices or wallet cards.