Learn About X-Linked Myotubular Myopathy

What is the definition of X-Linked Myotubular Myopathy?
X-linked myotubular myopathy (XLMTM) is a type of centronuclear myopathy, which is a group of rare, inherited conditions that affect the muscles. XLMTM, specifically, occurs almost exclusively in males and is characterized by progressive muscle weakness (myopathy) and decreased muscle tone (hypotonia) that can range from mild to severe. The muscle problems impair the development of motor skills such as sitting, standing, and walking, and may disrupt primary functions such as breathing and feeding. XLMTM is caused by changes in the MTM1 gene and is inherited in an X-linked recessive manner.
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What are the alternative names for X-Linked Myotubular Myopathy?
  • X-linked myotubular myopathy
  • X-linked centronuclear myopathy
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What are the latest X-Linked Myotubular Myopathy Clinical Trials?
Contractile Cross Sectional Areas and Muscle Strength in Patients With Congenital Myopathies Compared to Healthy Controls

Summary: Patients with inherited muscle diseases can have several problems in their muscles, which can be both structural and metabolic. All the different diseases can affect the contractility of the muscles. The aim of the study is to investigate the relation between muscle strength and contractile cross sectional area (CCSA) in the thigh and calf in patients affected by inherited muscle diseases.

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Myotubular and Centronuclear Myopathy Patient Registry

Summary: The Myotubular and Centronuclear Myopathy Patient Registry (also referred to as the 'MTM and CNM Registry') is an international, patient-reported database specific to these conditions. More details and online registration are available at www.mtmcnmregistry.org.

Who are the sources who wrote this article ?

Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center

What are the Latest Advances for X-Linked Myotubular Myopathy?
RYR1-related myopathies: Expanding the spectrum of morphological presentation.
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