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Congenital Myopathies - Medical Malpractice
A congenital myopathy is a muscle disease a child is born with. They are, in fact, a group of different disorders related to the muscular dystrophies. Instead of being a problem with the muscle cell membrane, as in muscular dystrophies, the damage is due to mutations of the contractile proteins within the cell. The myofibres or muscle cells do not look normal under the microscope. There are many congenital myopathies, including nemaline congenital myopathy, centronuclear myopathy, central core myopathy and congenital myofibrillar myopathy. There are literally hundreds of myopathies a person could have.
As these are congenital, many of the symptoms begin to show up in infancy. The child can fail milestones such as rolling over or sitting up and will likely be unable to walk at the proper time, if at all. The muscle disease can be so severe as to interfere with swallowing and breathing. The child can die from respiratory failure due to an inability to breathe. He or she may need to be fed through a feeding tube because swallowing muscles do not work effectively. Muscle weakness is the mainstay of most congenital myopathies.
In order to diagnose a congenital myopathy, the doctor must rule out problems with the nerves going to the muscle or other muscle problems or nerve problems. The ultimate way to diagnose a congenital myopathy is to do a muscle biopsy and find out what's going on within the skeletal muscle. Genetic testing can be done in some of the myopathies to flush out the exact diagnosis of congenital myopathy. An EMG is one test that doctors use to define muscle and nerve problems in both adults and children. Genetic testing can be done in order to avoid having another child with congenital myopathy if a couple already has had a child with the disease although some of the congenital myopathies can be spontaneous mutations.
Let's take a look at some of the findings in the various congenital myopathies:
Nemaline myopathy is the most common of the congenital myopathies. It causes feeding and breathing problems in infancy. They may later have some types of skeletal abnormalities, including scoliosis. The weakness begins in infancy but does not worsen over a person's lifetime.
In Myotubular myopathy, only boys are affected. It is an X-linked musculoskeletal disease. The floppiness of the baby can be so severe that parents notice fewer movements in the womb during the pregnancy. Swallowing and breathing difficulties are profound so that most children do not survive infancy. The bones are often weakened with osteoporosis in this disorder.
Centronuclear myopathy is not common and begins either in infancy or in early childhood. The arms and legs become weak and the eyelids tend to droop. There can be abnormal eyelid movements and the weakness tends to get worse as time goes on.
Central core disease can be either severe or not so severe. There can be mild floppiness a delayed milestones or more severe disease involved. The children with this disease can have life-threatening reactions when they have general anesthetic. The only real treatment for this disorder is Salbutamol, which reduces the amount of weakness in most children who take it, even though it is not a cure.
In multi-minicore disease, there can be many types. The most common symptom is severe muscle weakness involving the limbs and scoliosis. Breathing problems are common as are weakened eye movements.
There is no cure for any of the congenital myopathies and the only treatment is that which is used above for central core disease. Physical and occupational treatments can improve the child's functionality as long as breathing problems don't leave the child unable to breathe.LEGAL HELPLINE: ☎ 855 804 7125
The author of the substantive medical writing on this website is Dr. Christine Traxler MD whose biography can be read here