Diagnosis

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. These may be ordered to detect an enzyme called creatine kinase.
  • Electromyography (EMG). Electromyography measures electrical activity within muscles.
  • Genetic testing. This may be recommended to verify a particular mutation in a given gene.
  • 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%.

Treatment

Congenital myopathies can't be cured, but doctors can help you manage the condition and symptoms. Treatment may include several options.

  • Genetic counseling. Genetic counselors may help you understand the genetics of the condition.
  • Medications. Medications may help treat symptoms of some myopathies. For example, the drug albuterol (Proair HFA, Ventolin HFA, others) may be helpful in some congenital myopathies.
  • Nutritional and respiratory support. Nutritional or respiratory support may be needed as the condition progresses.
  • Orthopedic treatments. Orthopedic support devices or other treatments, such as surgery to correct or improve scoliosis or contractures, may be helpful.
  • Physical, occupational or speech therapy. Physical, occupational or speech therapy may help manage symptoms. Low-impact aerobic exercise, such as walking and swimming, can help maintain strength, mobility and general health. Some types of strengthening exercises also might be helpful.
  • Respiratory therapy. Some patients need respiratory support or respiratory treatments.

In addition to these treatments, some people with congenital myopathies may benefit from an evaluation from an endocrinologist. An endocrinologist can monitor bone health, as bone diseases such as osteopenia and osteoporosis may develop in some people with congenital myopathies.

It's also important to take precautions to prevent respiratory infections. Annual influenza vaccinations and regular pneumonia vaccinations are recommended. Try to avoid contact with anyone who has an obvious respiratory infection.

Clinical trials

Explore Mayo Clinic studies testing new treatments, interventions and tests as a means to prevent, detect, treat or manage this disease.

Coping and support

When you learn your child has a congenital myopathy, you may experience a range of emotions, including anger, fear, worry, sorrow and guilt. You may not know what to expect, and you may worry about your ability to care for your child. The best antidote for fear and worry is information and support.

Consider these steps to prepare yourself and to care for your child:

  • 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 group 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.

Preparing for your appointment

Congenital myopathies are often evident at birth. But, the effects of some congenital myopathies may not appear until childhood or later. If this is the case, you'll likely start by seeing your child's pediatrician or a primary care doctor.

What you can do

  • Write down any signs and symptoms your child is experiencing. Write down when each symptom began.
  • Write down your child's family history, including details from both the maternal and paternal sides of the family.
  • Ask a family member or friend to come with you, if possible. Sometimes it can be difficult to remember all of the information provided to you during an appointment. Someone who accompanies you might help you remember the doctor's recommendations.
  • Write down questions to ask your doctor.

Your time with your doctor may be limited, so preparing a list of questions may help you make the most of your time together. You might want to ask the following questions:

  • What's the most likely cause of these symptoms?
  • What kinds of tests does my child need? Do these tests require any special preparation?
  • Does my child need treatment? If so, when?
  • What treatments are available, and which do you recommend?
  • What is the prognosis?
  • If I have more children, what are the odds of this condition occurring in them?
  • Are there any brochures or other printed material that I can take home with me? What websites do you recommend visiting?

What to expect from your doctor

Your doctor is likely to ask you a number of questions. Being ready to answer them may reserve time to go over any points you want to spend more time on. Your doctor may ask:

  • When did you first notice the symptoms?
  • Can you describe the symptoms?
  • When do these symptoms occur?
  • Have the symptoms been continuous or occasional?
  • Do the symptoms seem to be getting worse?
  • Do you have any family history of congenital myopathies?
  • Does anything seem to improve your child's symptoms?
  • Has your child been growing and meeting developmental milestones as expected?

Congenital myopathies care at Mayo Clinic

March 05, 2020
  1. Bodamer OA, et al. Congenital myopathies. http://www.uptodate.com/home. Accessed Dec. 3, 2016.
  2. Goldman L, et al., eds. Muscle diseases. In: Goldman-Cecil Medicine. 25th ed. Philadelphia, Pa.: Saunders Elsevier; 2016. http://www.clinicalkey.com. Accessed Dec. 2, 2016.
  3. Congenital myopathy information page. National Institute of Neurological Disorders and Stroke. http://www.ninds.nih.gov/disorders/myopathy_congenital/myopathy_congenital.htm. Accessed Dec. 4, 2016.
  4. Columbo I. Congenital myopathies: Natural history of a large pediatric cohort. Neurology. 2015;84:28.
  5. Massalka D, et al. Prenatal diagnosis of congenital myopathies and muscular dystrophies. Clinical Genetics. 2016;90:199.
  6. Jungbluth H, et al. Current and future therapeutic approaches to the congenital myopathies. Seminars in Cell & Developmental Biology. In press. Accessed Dec. 2, 2016.
  7. Jungbluth H, et al. Congenital myopathies: Not only a paediatric topic. Current Opinion in Neurology. 2016;29:642.
  8. Brown AY. AllScripts EPSi. Mayo Clinic. Nov. 12, 2019.
  9. Selcen D (expert opinion). Mayo Clinic. Feb. 14, 2020.

Related

Products & Services