Treatment for nemaline myopathy

The treatment for 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, being done not to cure the disease, but to relieve and treat the symptoms, improving the quality of life.

Treatment is usually started with physiotherapy sessions to help strengthen weakened muscles by performing specific exercises adapted by a physical therapist.

In addition, and depending on the symptoms that may arise, treatment can also be done with:

• Use of CPAP: it is a device with a mask used in moderate and severe cases to facilitate breathing, especially during sleep. Learn more at: CPAP; Use of a wheelchair: it is necessary in cases of nemaline myopathy that causes difficulty in walking due to weakness of the leg muscles; Placement of gastrostomy tube: consists of a small tube inserted directly into the stomach that allows feeding in the most severe cases; Ingestion of antibiotics: they are used in some cases to treat respiratory infections, such as pneumonia, frequent due to respiratory problems caused by myopathy.

In the most severe cases, it may be necessary to stay in the hospital to make the appropriate treatment and 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, it is also common for some features to appear, such as a thin face, narrow body, open mouth appearance, hollow foot, deep chest and the development of scoliosis or osteoporosis.

Symptoms usually appear shortly after birth because it is a genetic disease, but in some cases, the first symptoms may develop only in early adulthood.

The diagnosis of nemalitic myopathy is made with muscle biopsy when there are symptoms of suspected disease, especially when developmental delays and constant muscle weakness arise.

Signs of improvement in nemaline myopathy

There are no signs of improvement in nemaline myopathy, as the disease does not improve. However, symptoms can be corrected with treatment, allowing for a better quality of life.

Signs of worsening nemaline myopathy

The signs of worsening nemaline myopathy are related to complications, such as infections and respiratory arrest, and therefore include fever above 38ºC, increased difficulty in breathing, shallow breathing, bluish fingers and face.