Welcome to a comprehensive resource dedicated to X-linked myotubular myopathy (XLMTM). This site aims to provide clear, reliable information and support for both healthcare professionals and caregivers navigating this rare condition. Here, educational materials, guidance on diagnosis and management, and valuable resources are available to help improve the lives of individuals with XLMTM.

What is XLMTM?

X-linked myotubular myopathy (XLMTM) is a serious and rare genetic disorder. It is characterized by severe muscle weakness and hypotonia (low muscle tone) at birth due to abnormal development of muscle fibers. This condition can impact various systems in the body, leading to significant respiratory, feeding, and motor challenges.1-3 Understanding XLMTM is the first step toward a comprehensive approach to care and disease support.

About XLMTM

Learn more about the genetic basis, prevalence, and typical presentation of XLMTM.


Diagnosis

Navigate the diagnostic process for XLMTM, including key indicators, differential diagnoses, and genetic testing.

Clinical Management

Learn about the essential multidisciplinary approaches and ongoing medical interventions vital for managing XLMTM.

Clinical Resources

Access a curated collection of helpful resources, including support organizations and educational materials.

For Caregivers

Find dedicated support and information tailored specifically for caregivers of individuals with XLMTM.


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References


1. Dowling JJ, Lawlor MW, Das S. X-linked myotubular myopathy. In: Adam MP, Bick S, Mirzaa GM, et al., eds. GeneReviews® [Internet]. Updated August 23, 2018. Accessed November 17, 2025. https://www.ncbi.nlm.nih.gov/books/NBK1432/ 2. Lawlor MW, Dowling JJ. X-linked myotubular myopathy. Neuromuscul Disord. 2021;31(10):1004-1012. doi:10.1016/j.nmd.2021.08.003 3. Severe X-linked myotubular myopathy. Genetic and Rare Diseases Information Center. Updated September 2025. Accessed November 17, 2025. https://rarediseases.info.nih.gov/diseases/11925/x-linked-myotubular-myopathy