Congenital myopathies

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Update Date 12/05/2020 . 4 mins read


What are congenital myopathies?

Congenital myopathies are muscle diseases present at birth (congenital) that result from genetic defects. There are many different types of congenital myopathies, but most share common features, including lack of muscle tone and weakness.

How common are congenital myopathies?

Congenital myopathies are rare. Please discuss with your doctor for further information.


What are the symptoms of congenital myopathies?

The common symptoms of congenital myopathies are:

Types of congenital myopathies include:

  • Central core disease. This condition causes muscle weakness and developmental problems. Some people may develop a significant reaction to general anesthesia (malignant hyperthermia).
  • Centronuclear myopathies. These rare conditions cause muscle weakness in the face, arms, legs and eye muscles, and breathing problems.
  • Congenital fiber type disproportion myopathy. Small fibers are found on muscle tissue during biopsy. This condition causes muscle weakness in the face, neck, arms, legs and trunk.
  • Nemaline myopathy. Nemaline myopathy is one of the more common congenital myopathies and causes muscle weakness in the face, neck, arms and legs, and sometimes scoliosis. It may also cause breathing and feeding problems.
  • Multiminicore disease. This condition has several subtypes and often causes severe muscle weakness in the arms and legs, and scoliosis.
  • Myotubular myopathy. This rare condition, which occurs only in males, causes muscle weakness, floppiness and breathing problems.
  • Other myopathies. Other rare myopathies include autophagic vacuolar myopathy, cap disease, congenital myopathy with arrest of myogenesis, myosin storage (hyaline body) myopathy and zebra body myopathy.

There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.

When should I see my doctor?

If you have any signs or symptoms listed above or have any questions, please consult with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.


What causes congenital myopathies?

Congenital myopathies are caused by one or more genetic abnormalities in genes that control muscle development.

Risk factors

What increases my risk for congenital myopathies?

There are many risk factors for congenital myopathies, such as:

  • Infections
  • Foreign travel
  • Medications, such as cholesterol-lowering statins
  • Alcohol abuse

Diagnosis & treatment

The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.

How are congenital myopathies diagnosed?

To diagnose the condition, your doctor will review your medical and family history. He or she will conduct a physical and a neurological examination to find the cause of the muscle weakness and rule out other conditions. Your doctor may conduct several tests to diagnose congenital myopathy.

  • Blood tests may be ordered to detect an enzyme called creatine kinase.
  • Electrocardiogram (ECG). An electrocardiogram may be conducted to observe your heart’s electrical activity.
  • Electromyography (EMG). Electromyography measures electrical activity within muscles.
  • Genetic testing may be recommended to verify a particular mutation.
  • Muscle biopsy. A specialist may remove and examine a small sample of tissue (biopsy) from your muscle.

Prenatal diagnosis

If you have a known family history of congenital myopathies, you can opt for minimally invasive prenatal testing. Chorionic villus sampling can be done after 11 weeks of pregnancy. Amniocentesis can be done after 15 weeks, and cordocentesis can be done shortly after that.

The risk of pregnancy loss associated with these tests is less than 1 percent.

How are congenital myopathies treated?

there is no cure for the congenital myopathies. The purpose of treatment, which is largely supportive, is to help patients optimize function and to manage any medical complications associated with the disorder. Treatment measures for the congenital myopathies greatly depend on the severity of the individual’s symptoms, and especially upon the degree of muscle weakness and presence of skeletal deformities. Treatment mainly consists of respiratory and feeding support, and orthopedic intervention. Ophthalmologic and dental care is also important to help manage problems that may arise such as dry eyes and dental crowding. In the case of X-linked MTM, management of associated complications including undescended testicles, spherocytosis, peliosis, elevated liver enzymes, and gallstones is also recommended.

Affected infants, especially those with X-linked myotubular myopathy or nemaline myopathy, usually require a feeding tube (a gastrostomy or G-tube) for nutrition and mechanical ventilation through a tracheostomy to help with breathing. Other means of ventilation such as BiPAP (bilevel positive airway pressure) may be used. Even children and adults who don’t require help with daytime breathing may require respiratory support at night, since respiratory failure during sleep can occur.

Braces or surgery may be necessary to treat scoliosis, dislocated hips, and foot deformities. Since individuals with central core disease can develop malignant hyperthermia during surgery, they should consult a neurologist or anesthesiologist prior to these or other surgeries.

Lifestyle changes & home remedies

What are some lifestyle changes or home remedies that can help me manage congenital myopathies?

The following lifestyles and home remedies might help you cope with congenital myopathies:

  • Find a team of trusted professionals. You’ll need to make important decisions about your child’s education and treatment. Build a team of health care providers, teachers and therapists you trust. These professionals can help evaluate the resources in your area and explain state and federal programs for children with disabilities.
  • Seek out other families who are dealing with the same issues. Ask your doctor if your community has a support groups for parents of children with congenital myopathies. You can also find internet support groups. Family and friends also can be a source of understanding and support.

If you have any questions, please consult with your doctor to better understand the best solution for you.

Hello Health Group does not provide medical advice, diagnosis or treatment.

Hello Health Group does not provide medical advice, diagnosis or treatment.

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