Centronuclear myopathy is a genetic disorder and it involves muscle tissues related problems and centrally positioned nuclei of muscle cells.
Centronuclear myopathy comprises a group of congenital, inherited disorders, which cause generalized but severe hypotonia, muscle weakness (muscle tissues related problems), and abnormal location of cell nuclei in the skeletal muscle cells (nuclei are located in the center of the cell as against near periphery). It is categorized into more than ten types, for example: myotubular myopathy (X-linked myopathy), autosomal myopathy (also known as autosomal recessive form), autosomal dominant dynamin 2-related form, autosomal dominant myogenic factor 6 related form, etc. Some types surface right from birth (congenital), and some others show up later in life.
These disorders are inherited either from the mother or the father, or both. The myotubularin form of this disease is X-linked recessive, which mainly affects the male child and is inherited by a child through his mother.
It is caused due to mutation in the gene for myotubularin, myogenic factor 6, and dynamin 2 in the human chromosome. More than 75% cases that are diagnosed for myotubular myopathy are found to be carrying mutated MTM1 gene, autosomal recessive form related to mutation of BIN1 gene, and autosomal dominant form related to DNM2 gene (dynamin 2).
This disease is basically related to muscle tissues, and mild to severe hypotonia (muscle weakness, loss of muscle tone, problems with proximal muscles, skeletal muscles, weakness in facial muscles leading to various problems, etc., and symptoms related to hypotonia) is the primary symptom. The other symptoms include breathing problems (hypoxia), scaphocephaly, drooping of eyelids, and cramps in the leg.
Muscle biopsy is used to determine if the nucleas is located in the center of the muscle cell or any other tissue related mutations, to confirm the type of disorder the patient is carrying. Almost all the appearances of muscle biopsy are similar in myotubular myopathy, and the differences can only be revealed with the help of deep study. The other methods used for diagnosis are:
- Genetic testing to study mutation in genes
- Electrodiagnostic testing for nerve conduction studies
- Needle electromyography (in this method, a thin, needle-like electrode is inserted into the muscle tissue in order to determine if there is any abnormal electric activity)
Unfortunately, there is no specific cure for this condition. Symptomatic treatments are used in order to help patients. They include:
- Physical and occupational therapies (used to make muscles stronger, and eliminate effects of hypotonia)
- Therapies to improve functional ability of the patient
- Medicines to help cope with the internal problems (such as pulmonary complications, muscle weakening, eyelid drooping, etc.)
- Use of supportive systems to help the patient perform essential tasks (such as respirator to help the patient breathe normally)
- Treatment for scoliosis (either medication or surgery to remove scoliosis)
Disclaimer: This HealthHearty article is for informative purposes only, and should not be used as a replacement for expert medical advice.