Centronuclear Myopathy is a condition in which there is a weakness in the muscles or atrophy of skeletal muscles. The severity of the disease depends on the individual and may differ among the family also. One can notice the muscle weakness at any age in the life may be in childhood or adult. It can lead to delayed development of motor skills like walking, crawling and pain in muscles during exercise.
In severe cases of the disease, the patient may need a wheelchair for basic daily routine work. The patient with centronuclear myopathy may have mild to severe breathing problems; patients with centronuclear myopathy may have ptosis, cardiomyopathy, scoliosis etc.
A key diagnostic point for the centronuclear myopathy is by looking position of the nucleus in the muscle cells under the microscope, in the normal muscle cells the nucleus is present at the periphery but in this disease the nucleus shift to the center of the cell.
Centronuclear Myopathy is an Autosomal disease may be Autosomal dominant or Autosomal recessive. In this disease, the baby will only affect if both the parents having one copy of the mutated gene for the disease, but in the case of dominant, the baby can get the disease even if only one parent is affected and the second parent is having the normal genes. Centronuclear myopathy is caused by a mutation in DNM 2 and BIN 1 genes; the DNM 2 gene is responsible for making a protein called Dynamin- 2, which is responsible for bringing the substance into the cells. The BIN 1 gene is responsible for making a protein which is responsible for cell membrane structure.
Pathology of centronuclear myopathy –
If we examine the muscle biopsy material the position of the nucleus of muscle cell will be on periphery not central as in the normal cell, there is another medical condition called myotubular myopathy which is used interchangeably with centronuclear myopathy by physicians because of almost same characteristics.
Like much other disease-related with a muscular disability, the symptom of this disease is muscular weakness and disability.
In the congenital form of centronuclear myopathy, there is decreased neonatal tone, acute weakness, and loss of developmental skills like loss of head control.
One of the most severe symptoms of the disease is a weakness of muscles of respiration.
Other mild symptoms of the disease are high arched palate, abnormally elongated digits, bell-shaped chest and long face.
It is very easy to diagnose the centronuclear myopathy, one of the most common methods used is a macroscopic diagnosis in which muscle biopsy is done and the sample is diagnosed for the presence of muscle cell nucleus whether it is in the center or on the periphery. If the nucleus is present in the center than we confirm for the present of centronuclear myopathy.
At present, there is no cure for the disease but we can cut down some severe symptoms but cannot completely cure the disease, the main aim of the treatment is improving the lifestyle of the person and minimizes medical complexities. Sometimes physical therapy is done for improving the muscle strength. Medications are used for the respiratory complications like muscle weakness and surgery can be an option for the treatment purposes.