Each column keeps its native condition scope. Initial features are displayed alphabetically, not ranked by clinical importance. Counts remain separate, and an empty cell does not mean a feature cannot occur.
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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"Centronuclear myopathy is most often caused by mutations in the DNM2, BIN1, or TTN gene. The proteins produced from the DNM2 and BIN1 genes are involved in endocytosis, a process that brings substances into the cell. The protein produced from the BIN1 gene plays an additional role in the formation of tube-like structures called transverse tubules (or T tubules), which are found within the membrane of muscle fibers. These tubules help transmit the electrical impulses necessary for normal muscle tensing (contraction) and relaxation. The protein produced from the DNM2 gene also regulates the actin cytoskeleton, which makes up the muscle fiber's structural framework. DNM2 and BIN1 gene mutations lead to abnormal muscle fibers that cannot contract and relax normally, resulting in muscle weakness.
The TTN gene provides instructions for making a protein called titin that is an essential component of muscle fiber structures called sarcomeres. Sarcomeres are the basic units of muscle contraction; they are made of proteins that generate the mechanical force needed for muscles to contract. TTN gene mutations decrease or alter titin's activity in muscle fibers. It is unclear how these mutations lead to centronuclear myopathy, but it is likely that the altered protein cannot interact with other proteins in the sarcomere, leading to dysfunction of the sarcomere. Abnormal sarcomeres prevent muscle fibers from contracting and relaxing normally, resulting in muscle weakness.
Some people with centronuclear myopathy do not have identified mutations in the DNM2, BIN1, or TTN genes. Mutations in other genes associated with this condition are found in a small percentage of cases. Some males with signs and symptoms of severe centronuclear myopathy may have a condition called X-linked myotubular myopathy, which is similar to centronuclear myopathy, and is often considered a subtype of the condition, but has a different genetic cause. In some people with centronuclear myopathy, the cause of the disorder is unknown. Researchers are looking for additional genes that are associated with centronuclear myopathy.
","key":"forms","title":"What causes Centronuclear myopathy?"},{"bodyHtml":"People with centronuclear myopathy begin experiencing muscle weakness at any time from birth to early adulthood. The muscle weakness slowly worsens over time and can lead to delayed development of motor skills, such as crawling or walking; muscle pain during exercise; and difficulty walking. Some affected individuals may need wheelchair assistance as the muscles atrophy and weakness becomes more severe. In rare instances, the muscle weakness improves over time.
Some people with centronuclear myopathy experience mild to severe breathing problems related to the weakness of muscles needed for breathing. People with centronuclear myopathy may have droopy eyelids (ptosis) and weakness in other facial muscles, including the muscles that control eye movement. People with this condition may also have foot abnormalities, a high arch in the roof of the mouth (high-arched palate), and abnormal side-to-side curvature of the spine (scoliosis). Rarely, individuals with centronuclear myopathy have a weakened heart muscle (cardiomyopathy), disturbances in nerve function (neuropathy), or intellectual disability.
A key feature of centronuclear myopathy is the displacement of the nucleus in muscle cells, which can be viewed under a microscope. Normally the nucleus is found at the edges of the rod-shaped muscle cells, but in people with centronuclear myopathy the nucleus is located in the center of these cells. How the change in location of the nucleus affects muscle cell function is unknown.
Source: MedlinePlus Genetics
X-linked myotubular myopathy is a condition that primarily affects muscles used for movement (skeletal muscles) and occurs almost exclusively in males. People with this condition have muscle weakness (myopathy) and decreased muscle tone (hypotonia) that are usually evident at birth. When viewed under a microscope, the muscle fibers of affected individuals are typically small and underdeveloped.
The muscle problems in X-linked myotubular myopathy impair the development of motor skills such as sitting, standing, and walking. Affected infants may also have difficulties with feeding due to muscle weakness. Individuals with this condition often do not have the muscle strength to breathe regularly on their own and must be supported with a machine to help them get enough oxygen (mechanical ventilation). Some affected individuals need breathing assistance only periodically, typically during sleep, while others require it continuously. People with X-linked myotubular myopathy may also have weakness in the muscles that control eye movement (ophthalmoplegia), weakness in other muscles of the face, and absent reflexes (areflexia).
In X-linked myotubular myopathy, muscle weakness often disrupts normal bone development and can lead to fragile bones, an abnormal curvature of the spine (scoliosis), and joint deformities (contractures) of the hips and knees. People with X-linked myotubular myopathy may have a large head with a narrow and elongated face and a high, arched roof of the mouth (palate). They may also have recurrent ear and respiratory infections, seizures, or liver disease. Some affected individuals develop a serious liver condition called peliosis hepatitis, which can cause life-threatening bleeding (hemorrhage).
Because of their severe breathing problems, individuals with X-linked myotubular myopathy usually survive only into early childhood; however, some people with this condition have lived into adulthood.
X-linked myotubular myopathy is the most severe condition in a group of disorders called centronuclear myopathy. In centronuclear myopathy, the nucleus is found at the center of many rod-shaped muscle cells instead of at either end, where it is normally located.
Mutations in the MTM1 gene cause X-linked myotubular myopathy. The MTM1 gene provides instructions for producing an enzyme called myotubularin. Myotubularin is thought to be involved in the development and maintenance of muscle cells.
MTM1 gene mutations probably disrupt myotubularin's role in muscle cell development and maintenance, causing muscle weakness and other signs and symptoms of X-linked myotubular myopathy.