Treatment of nemaline myopathy should be guided by a pediatrician, in the case of the baby and child, or by an orthopedist, in the case of the adult, not doing to cure the disease, but to relieve and treat symptoms, improving quality of life.
Treatment usually begins with physical therapy sessions to help strengthen weakened muscles through specific exercises adapted by a physical therapist.
In addition, and depending on the symptoms that may occur, the treatment can also be carried out with:
In the most severe cases, it may be necessary to stay in the hospital to perform appropriate treatment and avoid serious complications, such as respiratory arrest, that endanger the patient’s life.
The main symptoms of nemaline myopathy include
In addition to these symptoms, it is also common for certain characteristics to appear, such as thin face, narrow body, open mouth appearance, hollow foot, deep chest and the development of scoliosis or osteoporosis.
Symptoms usually appear shortly after birth, as it is a genetic disease, but in some cases the first symptoms may appear only in early adulthood.
Diagnosis of nemalytic myopathy is done by muscle biopsy when there are symptoms of suspected disease, especially in cases of developmental delays and constant muscle weakness.
There are no signs of improvement in nemaline myopathy, as the disease does not improve, however, symptoms can be corrected with treatment, allowing a better quality of life.
Signs of worsening nemaline myopathy are related to complications, such as infections and respiratory arrest, and therefore include fever greater than 38 degrees Celsius, increased breathing difficulties, shallow breathing, blue fingers and face.