Myopathy-Centronuclear
Myopathy-Centronuclear Causes
Genetically acquired CNM is associated with the X-linked form of myotubular myopathy. Roughly 80% of men with myotubular myopathy have mutations in MTM1, and approximately 7% of these mutations are genetic deletions.
Myopathy-Centronuclear Definition
Centronuclear myopathies (or CNM) are a group of rare congenital myopathies that occur when cell nuclei are abnormally located in the center of the skeletal muscle cells (whereas, normally, they are located in the periphery). A myopathy implies a disease of the muscle tissue itself ? myo is from the word muscle and pathos literally means disease. CNM is considered very rare, but its most commonly occurring form is Myotubular Myopathy (or MTM).
Myopathy-Centronuclear Diagnosis
CNM can be determined through Electrodiagnostic Testing (also known as electrophysiologic), which encompasses nerve conduction studies. This process basically stimulates a peripheral motor or sensory nerve and records the response. In needle electromyography, the muscle is inserted with a thin needle or pin-like electrode to assess for abnormal electrical activities. This method can help differentiate between myopathies and neuropathies; the findings of which can help determine the consequent course of treatment. While electrodiagnostic results do make a distinction between neuropathy and myopathy, they are not effective in terms of identifying the specific type of myopathy present. In this regard, a muscle biopsy and perhaps even genetic testing are helpful.
Myopathy-Centronuclear Symptoms and Signs
CNM presents in the following symptoms: severe hypotonia, hypoxia-requiring breathing assistance, and scaphocephaly. The X-linked myotubular myopathy (MTM) commonly presents at birth; and for this reason, it is considered congenital. Conversely, some forms of centronuclear myopathies manifest much later in life.
Myopathy-Centronuclear Treatment
At present, there is no known cure for myotubular or centronuclear myopathies. Typically, therapy is geared towards minimizing complications, alleviating symptoms, and maximizing the functional abilities of the patient. Professionals specializing in physical therapy may be involved. Lung infections can be particularly fatal to patients suffering from myopathy because they do not have the muscle strength to clear secretions through coughing. Because of this, medical care is focused on avoiding pulmonary complications. Medical tools to help patients cough are useful in clearing up the airways, avoiding mucous plugs, and subsequently avoiding the need for tracheostomy tubes. Scoliosis must also be monitored at all times, since the weakening of the trunk muscles can affect the spinal alignment, eventually leading to respiratory damage. Several patients suffering from myopathy may have to undergo surgical treatment for scoliosis.