National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Centronuclear Myopathy is not the name you expected.
Centronuclear myopathy (CNM) is an umbrella term for a group of rare genetic muscle disorders. These disorders are characterized by muscle weakness that can range from mild to profound. Symptoms are often present at birth in the severe forms, but may first develop at any point during life, although onset in adulthood is unusual. CNMs derive their name based on the central location of the muscle fiber (muscle cell) nucleus, which is an abnormal finding that can be seen in muscle biopsies. Muscle fiber nuclei are normally located at the periphery of the muscle fiber. Centrally placed nuclei can be seen when examining muscle biopsy tissue in the microscope and this feature is an important finding to recognize in making a diagnosis of CNM.
There are several genetic forms of CNM including an X-linked form known as myotubular myopathy (XLMTM) and a few autosomal forms, usually referred to as centronuclear myopathy. Autosomal refers to genes that are found on autosomes, or chromosomes other than the X or Y chromosomes (sex chromosomes). Generally, the autosomal forms are less severe than XLMTM, however, in rare cases, individuals with an autosomal form can develop severe complications that are similar to those seen in XLMTM.
Common symptoms include mild to profound muscle weakness and diminished muscle tone (hypotonia). In more severe cases, feeding difficulties and potentially severe breathing complications (respiratory distress) may occur. Feeding difficulties and respiratory distress develop because of weakness of the muscles that are involved in swallowing and breathing. Involvement of the muscles controlling eye movements is common in all different forms. The overall severity of the disorder can range from mildly affected individuals to individuals who develop severe, life-threatening complications during infancy and early childhood. Three different genes, DNM2, BIN1, and RYR1, have been identified that cause autosomal forms of CNM. XLMTM is caused by mutations to the myotubularin (MTM1) gene.
Centronuclear myopathies are a group of muscle diseases that are considered part of a larger family of muscle diseases known as congenital myopathies, a group of genetic muscle disorder that are evident at or around the time of birth. In the medical literature, centronuclear myopathy (CNM) is generally used for the autosomal forms of the disorder and myotubular myopathy is generally used for the X-linked form (XLMTM). Distinguishing between the X-linked myotubular form and the autosomal forms of CNM is essential as the symptoms are usually more severe in the X-linked form. NORD has a separate report on X-linked myotubular myopathy that describes that form in greater detail. This report specifically deals with the autosomal forms of centronuclear myopathy.
CLIMB (Children Living with Inherited Metabolic Diseases)
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Contact A Family
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Cure CMD (Congenital Muscular Dystrophy)
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European Alliance of Neuromuscular Disorders Associations
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Genetic and Rare Diseases (GARD) Information Center
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Joshua Frase Foundation
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Muscular Dystrophy Association
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Muscular Dystrophy Campaign
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Myotubular Myopathy Resource Group
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- Texas City, TX 77590
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- Website: http://www.mtmrg.org
- 15a Barnard Road
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- Website: http://www.myotubulartrust.org
NIH/National Institute of Neurological Disorders and Stroke
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- Website: http://www.ninds.nih.gov/
ZNM- Zusammen Stark! e. V.
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For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
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Last Updated: 4/7/2016
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