X linked Myotubular Myopathy

It is possible that the main title of the rating X-Linked Myotubular Myopathy is not the name you anticipated. Please check the basic synonyms specifying to find the alternate name(s) as well as disorder subdivision(s) covered by this rating.

Basic synonyms

  • MTM
  • myotubular myopathy
  • x-linked centronuclear myopathy
  • Problem Neighborhoods


General Conversation
X-linked myotubular myopathy (XLMTM) is a rare genetic neuromuscular condition that is defined by muscle tissue weak point that can vary from mild to extensive. Signs and symptoms are usually present at birth, but might initially develop throughout infancy or early youth. In rare situations, signs and symptoms might not develop until later, even adulthood. Typical symptoms consist of light to extensive muscle mass weakness, reduced muscle tone (hypotonia or “floppiness”), feeding problems, as well as potentially extreme breathing issues (respiratory distress). Eating difficulties as well as breathing distress establish due to weakness of the muscle mass that are involved in ingesting and also breathing. The overall severity of the condition can range from gently affected individuals to individuals that create severe, lethal issues throughout early stage and also early youth. The majority of impacted individuals have a severe kind of the problem and breathing failure is an almost uniform incident. XLMTM is caused by mutations to the myotubularin (MTM1) gene. The problem is acquired as an X-linked recessive problem. The problem mainly affects males, however female carriers could create light signs and symptoms. In rare certain situations, women can create an extreme form similar to that seen in men.

XLMTM belongs to a larger group of conditions called the centronuclear myopathies. In addition to XLMTM, there are forms of centronuclear myopathy that are acquired as autosomal dominant or autosomal recessive conditions. Generally, the autosomal forms are less extreme compared to XLMTM, nevertheless, in unusual situations, individuals with an autosomal form could develop serious complications that resemble those seen in XLMTM. Centronuclear myopathies acquire their name from the irregular area of the core in the facility of the muscular tissue fiber (muscle cell) as opposed to its regular placement on the brink. Added pathologic attributes include chaotic perinuclear organelles and also irregularities in oxidative discoloration patterns. Centronuclear myopathies can be more categorized right into the larger, more comprehensive classification of hereditary myopathy, a team of hereditary muscle mass problems that are present at birth.

In the medical literature, centronuclear myopathy is typically used for the autosomal forms of the problem and myotubular myopathy is usually used for the X-linked kind. Comparing the X-linked (myotubular) kind and also the autosomal kinds is necessary as the signs and symptoms are typically much more severe in the X-linked form. NORD has a separate report on centronuclear myopathy that explains the autosomal forms in higher detail. This rating specifically manages X-linked centronuclear (myotubular) myopathy.

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