Congenital myopathy is a rare genetic condition that affects newborns and results in muscle weakness and lack of muscle tone.

There are a few distinct kinds of inherent myopathy. A genetic change (mutation) in one of several genes causes congenital myopathy. Your child’s condition’s type and severity determine Outlook.

Congenital myopathy: what is it?

It is a rare genetic condition that causes muscle weakness. Myopathy refers to a “muscle disease,” and congenital means “present at birth.” At birth, congenital myopathies babies lack muscle tone. Problems with the bones, such as weak or misaligned bones, difficulty breathing, and issues with eating are additional symptoms of the condition. Symptoms can manifest at birth, in early childhood, or throughout adulthood.

What symptoms does congenital myopathy present?

The symptoms of myopathy can differ from type to type. They can develop throughout infancy and childhood or be present at birth. The following are the most typical signs of congenital myopathy:

Hypotonia, or floppiness: Loss of your youngster’s muscle tone that might advance after some time.

Weakness in the muscles: Muscles in your youngster’s neck, shoulders, and pelvis (proximal muscles) are generally usually impacted.

Trouble relaxing: Feeling winded or like you can’t fill your lungs with air due to the shortcoming of breathing muscles.

Delays in development: Not all of the milestones, like sitting up or turning over, are met.

Taking care of issues: Eating with a spoon, drinking, chewing, and sucking from a breast or bottle can all be abnormal and challenging.

Falling/stumbling: little children might fall or stagger because of muscle shortcomings.

What causes innate myopathy?

The majority of congenital myopathies are caused by changes (mutations) in particular genes. Your child’s muscles, the nerves that stimulate their muscles, and their brain are affected by these gene mutations.

How is congenital myopathy diagnosed?

A neonatologist or pediatrician carries out a physical examination at the time of your child’s birth to diagnose congenital myopathy. They may refer you to a neurologist and possibly a geneticist in addition to ordering a number of tests to confirm the diagnosis.

These tests include:

A blood test: This test measures creatine kinase, a muscle enzyme, in the blood.

Electromyogram (EMG): It measures the electrical activity of your child’s muscles.

Biopsy of muscle: It helps in detecting the cell changes in your child’s muscles.

Testing for genes: Genetic testing helps in detecting myopathy-causing gene mutations.

How is innate myopathy treated?

Treatment for focal center illness and multicore sickness might include the utilization of a medication called albuterol. Albuterol is thought of as a trial however has been displayed to assist with reducing how many shortcomings your youngster encounters. However, it is not a treatment for the condition.

Managing your child’s symptoms is an important part of any treatment for congenital myopathy. Some of these treatments should be:

If necessary, orthopedic treatment.

Active recuperation.

therapy in the workplace.

Therapy for speech.

Gene therapies and other experimental treatments are still being developed.

 If my child has congenital myopathy, what should I expect?

The type and severity of your child’s congenital myopathy affect the prognosis significantly. Long-term skeletal issues can result from congenital myopathies, such as:

  • Diminished joint mobility
  • Problems with the hips

Additionally, life expectancy varies. In the event that your child experiences serious breathing difficulty, they might encounter respiratory distress or complexities like pneumonia. On the other hand, if your child has a mild condition, they might live a full life as adults. Discuss your child’s specific condition with your Pediatric neurologist.