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What is Myotubular & Centronuclear Myopathy?


There are three genetically distinct forms of this rare group of conditions

The term myotubular myopathy is commonly used for the x-linked form, whilst the term centronuclear myopathy is mainly reserved for the other forms.

The commonest form is x-linked myotubular myopathy, affecting mainly boys, and is also the most severe. It usually presents in the newborn period and there are associated breathing and swallowing difficulties in addition to the general muscle weakness. The other autosomal forms are either dominant or recessive in inheritance, are usually (but not always) milder and vary widely.

See the Clinical Overview pages of this site for a more detailed explanation of the genetics of the condition.

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Our logo represents the muscle cell of someone with Myotubular and Centronuclear Myopathy.

In normal muscle development the central nucleus of a muscle cell moves to the outside edge of the cell. In myotubular and centronuclear myopathy the nucleus remains in the centre of the muscle cell, hence the name for this group of conditions. The central nucleus can be seen under a microscope when a piece of muscle is examined, and therefore the first step in diagnosing the condition is to have a muscle biopsy. This is usually confirmed by DNA blood analysis to identify the exact gene mutation.

In x-linked myotubular myopathy the protein myotubularin which is present in normal body cells, is either missing or severely reduced.  In the other autosomal forms of centronuclear myopathy different proteins are affected, such as dynamin 2 and amphiphysin 2. The role of each of these proteins in normal muscle development is not fully understood yet, but when they are affected by these genetic mutations, the muscles don’t work as they should. Sometimes this weakness is apparent immediately from birth and sometimes symptoms may be more apparent in later childhood or adulthood.

As well as having general muscle weakness, many of those affected by x-linked myotubular myopathy in particular, need mechanical ventilation to stay alive and need to be fed straight into the stomach via a feeding tube. Many are medically very fragile and need nursing care 24/7. Put very simply, a cold can kill someone affected by myotubular myopathy as their cough and swallow function is so weak. Sadly many do not survive their first year of life.*

  • Each year, it is estimated that between 1 : 50,000 – 1: 100,000 children
    are affected by myotubular myopathy*source: Genotype-Phenotype Correlations in X-Linked Myotubular Myopathy – M. McEntegert et al (2002)
  • The mortality of X-linked myotubular myopathy is very high in infancy*source: Centronuclear (Myotubular) Myopathy – H. Jungbluth & N. Voermans (2016)
  • The majority of those affected by X-linked myotubular myopathy require
    ventilatory support.*source: Congenital Myopathies : Not Only A Paediatric Topic -H. Jungbluth & N. Voermans (2016)
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