These resources are for informational purposes only. This list is not intended to be an exhaustive summary of additional resources. The accuracy of information contained within these resources is not guaranteed, and this site does not endorse any of the listed resources or organizations. These resources are not intended to replace clinical judgment.

The downloadable resources on this page are intended only for US-based Health Care Professionals.

XLMTM Brochure

An overview of XLMTM, associated complications, diagnosis, and patient care

XLMTM key signs and symptoms

Quick guide for recognizing XLMTM

The downloadable resources on this page are intended only for US-based Health Care Professionals.

XLMTM Mechanism of Disease

See how mutations in MTM1 affect muscle function and lead to XLMTM.

MTM-CNM Family Connection

A non-profit organization dedicated to connecting families affected by Myotubular Myopathy (MTM) and/or Centronuclear Myopathy (CNM) to resources, research, and relationships within the MTM-CNM community 

Rare Disease Day

A global organization dedicated to raising awareness about rare diseases and their impact on patients

Global Myotubular and Centronuclear Myopathy Patient Registry

An international patient database specific to Myotubular and Centronuclear Myopathy to accelerate research, facilitate clinical trial recruitment, and improve the standard of care for individuals living with these conditions.

Pequeños Superhéroes, Asociación de Miopatia Miotubular y Centronuclear

Part of the Federacion Espanola de Enfermedades Raras (FEDER, or Spanish Federation of Rare Diseases), whose mission is to promote the rights of those living with a rare disease and seeking a diagnosis, generating strategies that contribute to improving their quality of life.

ZNM Zusammen Stark! e.V.

A German self-help association for people with a group of very rare muscle diseases, the centronuclear myopathies (CNM), serving families in Germany, the Netherlands, Belgium, Switzerland and Austria.

Myotubular Trust (UK)

A UK-registered charity that funds pioneering global research to find a treatment or cure for Myotubular and Centronuclear Myopathy while also supporting patients and families with the latest information and best practices.

Muscular Dystrophy Association

A voluntary non-profit health organization in the United States for people living with muscular dystrophy, amyotrophic lateral sclerosis (ALS), and related neuromuscular diseases.

Fundacja Oswold Miopatie

A Polish non-profit organization that advocates for dignified life and comprehensive care for individuals with myopathies by integrating and supporting affected families and providing the latest information on research and clinical trials.

Global Genes

An international, non-profit patient advocacy organization dedicated to patients with rare disease and their caregivers

National Organization for Rare Disorders (NORD)

A non-profit patient advocacy organization dedicated to rare disease awareness and education

NIH Genetics Home Reference

A patient-friendly educational resource provided by the National Library of Medicine

NIH Genetics and Rare Diseases Information Center (GARD)

GARD provides access to current information about rare or genetic diseases.

Online Mendelian Inheritance in Man (OMIM)

OMIM is a catalog of human genes and genetic disorders maintained by Johns Hopkins University School of Medicine.

Genetic Testing Registry (GTR)

GTR provides information for healthcare providers on genetic testing for diseases including XLMTM.

Check Rare

A platform for sharing differing perspectives and raising awareness of rare diseases.

Treat-NMD Neuromuscular Network

Treat-NMD is a network for healthcare professionals, researchers, and patients focusing on scientific research and therapeutic advancements in the field of neuromuscular disease.

Eurordis

A Polish non-profit organization that advocates for dignified life and comprehensive care for individuals with myopathies by integrating and supporting affected families and providing the latest information on research and clinical trials.

We’re here to help clinicians navigate the XLMTM diagnostic and treatment journey.

For inquiries from US healthcare professionals, please contact Astellas Medical Affairs at medinfo.us@astellas.com.