Early and intensive intervention is frequently required

Survival for patients with XLMTM frequently requires early and intensive medical intervention, including1:

Up to 24-hour ventilation

Gastrostomy tube feedings

24-hour monitoring

Optimal respiratory care, such as tracheostomy, and gastrostomy tube feeding are often recommended to mitigate the risk of respiratory failure and malnutrition in patients with X-linked myotubular myopathy (XLMTM).1 These early interventions are associated with reduced risk of patient mortality and increased survival past infancy.2

Newborns with XLMTM

Spend an average of one third to half of their first year of life in the hospital3

Undergo 2 to 4 surgeries per year over the next 5 years3

Gastrostomy and tracheostomy surgery are the most common

Up to 90% of patients require respiratory support2-4

Of these patients, the majority require invasive support (eg, transtracheal intubation; the median age for tracheostomy placement is 3 months)

The remainder require noninvasive positive pressure support; bilevel positive airway pressure (BiPAP) is essential for patients with XLMTM5

Respiratory care options – Tracheostomy, BiPAP

Learn about options for respiratory support in patients with XLMTM.

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Managing respiratory secretions

Patients with XLMTM have reduced effectiveness of cough as a result of significant pharyngeal or respiratory muscle weakness.3,6 This leads to insufficient clearance of mucus secretions and increased risk of infection or aspiration pneumonia.

Routine management of secretions includes:

  • Use of mechanical- and manual-assisted cough techniques up to multiple times per hour to clear airway secretions
  • Use of secretion mobilization techniques up to several times per hour and more frequently when respiratory illness is present5

NEXT: Caring for patients with XLMTM requires a multidisciplinary team >

References

1. Dowling JJ, et al. In: Adam MP, et al, eds. GeneReviews®. 2002. 2. Graham RJ, et al. Arch Dis Child. 2020;105(4):332-338. 3. Beggs AH, et al. Muscle Nerve. 2018;57(4):550-560. 4. McEntagart M, et al. Neuromuscul Disord. 2002;12(10):939-946. 5. Wang CH, et al. J Child Neurol. 2012;27(3):363-382. 6. Smith BK, et al. Muscle Nerve. 2014;50(3):315-326.

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