XLMTM presents with a spectrum of severe signs and symptoms

Key clinical hallmarks of X-linked myotubular myopathy (XLMTM)1-4

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Several complications of XLMTM may be secondary to the generalized hypotonia, including1,3-7:

  • Inability to manage salivary secretions
  • Feeding difficulties characterized by swallowing, suckling, and chewing difficulties resulting in gastrostomy tube placement in >80% of patients
  • Thin or easily fractured bones
  • Delayed speech development
  • Scoliosis in >70% of patients, which can worsen over time and further impair breathing, requiring surgery
  • Abnormal bone development
  • Hepatic peliosis in 5% to 10% of patients (a potentially fatal complication characterized by blood-filled cavities within the liver)

Cognitive development in patients with XLMTM

Cognitive development is normal in the majority of cases, but can be delayed in some patients with XLMTM, potentially due to prolonged perinatal hypoxic episodes.4,6 Speech abnormalities in some cases due to dysarthria, respiratory insufficiency, and tracheostomy may be a confounding factor in accurately assessing cognitive function.6 Like motor function, cognitive development may be regularly and consistently assessed in XLMTM patients using standardized assessment tools to better understand their long-term cognitive abilities.3

References

1. Dowling JJ, et al. In: Adam MP, et al, eds. GeneReviews®. 2002. 2. North KN, et al. Neuromuscul Disord. 2014;24(2):97-116. 3. Beggs AH, et al. Muscle Nerve. 2018;57(4):550-560. 4. Amburgey K, et al. Neurology. 2017;89(13):1355-1364. 5. Annoussamy M, et al. Neurology. 2019;92(16):e1852-e1867. 6. McEntagart M, et al. Neuromuscul Disord. 2002;12(10):939-946. 7. Graham RJ, et al. Arch Dis Child. 2020;105(4):332-338.

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