Treatment for nemaline myopathy

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Treatment for nemaline myopathy should be guided by a pediatrician, in the case of infants and children, or by an orthopedist, in the case of adults, being done not to cure the disease, but to relieve and treat the symptoms, improving the quality of life. of life.

Treatment usually starts with physical therapy sessions to help strengthen muscles that are weakened by performing specific exercises tailored 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 a 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, which are frequent due to respiratory problems caused by myopathy.

In the most serious cases, it may be necessary to stay in the hospital for proper treatment and avoid serious complications, such as respiratory arrest, which put the patient's life at risk.

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 the appearance of some features such as a thin face, narrow body, open mouth appearance, cavus foot, deep chest and 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 not develop until early adulthood.

The diagnosis of nemalytic myopathy is made with muscle biopsy when there are symptoms of suspicion of the disease, especially when there are developmental delays and constant muscle weakness.

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 you to have a better quality of life.

Signs of worsening nemaline myopathy

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