The treatment for nemaline myopathy should be guided by a pediatrician, in the case of the infant and the child, or by an orthopedist, in the case of the adult, being done not to cure the disease, but to relieve and treat the symptoms, improving the quality of life.
Normally, treatment is started with physiotherapy sessions to help strengthen muscles that are weakened by performing specific exercises adapted by a physical therapist.
In addition, and depending on the symptoms that may arise, the treatment can also be done with:
- Use of CPAP: is a mask with a mask used in moderate and severe cases to facilitate breathing, especially during sleep. Learn more at: CPAP;
- Wheelchair use: it is necessary in cases of nemaline myopathy that causes difficulty walking due to weakness of the leg muscles;
- Placement of a gastrostomy tube: it consists of a small tube inserted directly into the stomach that allows feeding in the most severe cases;
- Antibiotic intake: In some cases antibiotics are used to treat respiratory infections, such as pneumonia, which are common because of respiratory problems caused by myopathy.
In more severe cases, it may be necessary to be hospitalized for appropriate treatment and to avoid serious complications, such as respiratory arrest, which endanger the patient's life.
Symptoms of nemaline myopathy
The main symptoms of nemaline myopathy include:
- Muscle weakness, especially in the arms and legs;
- Difficulty breathing or swallowing;
- Delays in development;
- Difficulty walking.
In addition to these symptoms, the appearance of some features such as thin face, narrow body, open mouth appearance, foot cavus, deep chest and development of scoliosis or osteoporosis are also common.
Symptoms usually arise soon after birth because it is a genetic disease, but in some cases the first symptoms may develop only in early adulthood.
The diagnosis of myelocytic myopathy is made with muscle biopsy when there are symptoms of suspected disease, especially when there are developmental delays and constant muscle weakness.
Signs of improvement of nemaline myopathy
There are no signs of improvement of the nemaline myopathy, since the disease does not improve. However, the symptoms can be corrected with the treatment, allowing to have more quality of life.
Signs of worsening of nemaline myopathy
Signs of worsening nematode myopathy are related to complications such as infections and respiratory arrest, and therefore include fever above 38 ° C, increased difficulty breathing, shallow breathing, bluish fingers and face.
