Disease Information for Myopathy, Myotubular/Centronuclear

Myopathy, Myotubular; Autosomal Dominant Centronuclear Myopathy; Autosomal Recessive Centronuclear Myopathy; Centronuclear Myopathy; Myopathy, Myotubular; Myotubular Myopathy Type 1 (MTM1); Myotubular Myopathy, X-linked; X-linked Congenital Recessive Muscle Hypotrophy with Central Nuclei; X-linked Myotubular Myopathy; X-linked Recessive Centronuclear Myopathy; X-linked Recessive Myotubular Myopathy; Subdivisions: Autosomal Dominant Centronuclear Myopathy; Autosomal Recessive Centronuclear Myopathy; X-Linked Centronuclear Myopathy; Myotubular Myopathy is a rare muscle wasting disorder that occurs in three forms; The most severe form is present at birth, inherited as an X- Linked genetic trait, and presents itself with severe respiratory muscle weakness; A less severe form of Myotubular Myopathy is present at birth or early childhood, progresses slowly and is inherited as an autosomal recessive genetic trait; The least severe of the three forms of Myotubular Myopathy is inherited as an autosomal dominant genetic trait, presents itself between the first and third decades of life and is slowly progressive; [NORD]

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Myotubular myopathy refers to the appearance of the affected muscle fibres that look like ‘myotubes’ which are muscle cells found only during foetal development; The condition is also sometimes known as ‘centronuclear myopathy’ because the nuclei of affected muscle cells are found in the centre of the cell instead of around the edge (which is what happens in healthy muscle cells);There are different three forms of myotubular myopathy; The most severe form presents antenatally or at birth, and is the most common; Symptoms include a lack of foetal movement in the late stages of pregnancy, and swallowing and breathing difficulties at birth; In extremely severe cases the baby may not survive more than a few days; This type of myotubular myopathy is inherited in an X-linked pattern; The other two forms, automomal dominant and autosomal recessive, are very rare and present later in life with milder symptoms; These include: paralysis of the muscles of the eye; drooping eyelids; facial weakness; enlargement (hypertrophy) of the calves; Sporadic cases have also been reported where there is no previous family history; [MDF]

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