Multidisciplinary management of X-linked myotubular myopathy in Spain and Portugal: A case series analysis
Detailed care standards for X-linked myotubular myopathy patients inform treatment planning as gene therapies advance toward clinical trials.
This multicenter case series of 24 XLMTM patients characterizes multidisciplinary management experience across Spain/Portugal, documenting respiratory, nutritional, and rehabilitation needs alongside significant extramuscular manifestations and highlighting persistent unmet clinical needs for this rare, severe disease with no curative treatment. The data contribute to the evidence base for disease natural history and care standards ahead of potential gene therapy trials (ASPIRO-type treatments) in this population.
What the study was
- Study design
- Case series / observational
- Population
- Pediatric patients with X-linked myotubular myopathy (XLMTM) in Spain and Portugal
- Sample size
- 24
- Category
- Public Health
- Maturity
- Exploratory
- Journal
- Neurologia (English Edition)
Why it surfaced
Rare severe neuromuscular disease with no curative treatment; case series provides important natural history and care data; XLMTM is relevant to upcoming gene therapy development.
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