Congenital myopathies are rare 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.

Other signs and symptoms of some congenital myopathies include feeding and breathing difficulties, as well as skeletal conditions, such as curvature of the spine (scoliosis), weak bones (osteopenia) or hip problems. Signs and symptoms of congenital myopathies may not be apparent until later in infancy or childhood.

There are no known cures for congenital myopathies. Supportive treatments include physical, occupational and speech therapies, nutritional support, and assisted breathing, if needed.

Genetic counseling may help assess the risk of congenital myopathies in future pregnancies.

  • Experience. Mayo Clinic doctors have experience evaluating and treating nearly 2,000 people a year with neuromuscular diseases, including congenital myopathies.
  • Team approach. Mayo Clinic doctors trained in nervous system conditions (neurology), neuromuscular diseases, hereditary conditions (medical genetics), heart conditions (cardiology), lung conditions (pulmonology), musculoskeletal conditions (orthopedic surgery), physical therapy, eye conditions (ophthalmology), and other areas work together to provide the most appropriate treatment for you.
  • Research. Mayo Clinic researchers study the genetics, causes, and evaluation and treatment of congenital myopathies.

Types

Mayo Clinic doctors trained in nervous system conditions (neurologists) and other doctors treat all types of congenital myopathies.

Congenital myopathies include:

  • Central core disease. This condition causes muscle weakness and developmental problems. Some patients may develop 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. This condition has an appearance of small fibers on muscle tissue and 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, also called centronuclear myopathy, 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, hyaline body myopathy, myosin storage myopathy and zebra body myopathy.

Mayo Clinic in Rochester, Minn., ranks #1 for neurology and neurosurgery in the U.S. News & World Report Best Hospitals rankings. Mayo Clinic in Rochester, Minn., is ranked among the Best Hospitals for orthopedics and for rehabilitation by U.S. News & World Report.

At Mayo Clinic, we assemble a team of specialists who take the time to listen and thoroughly understand your health issues and concerns. We tailor the care you receive to your personal health care needs. You can trust our specialists to collaborate and offer you the best possible outcomes, safety and service.

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Why Choose Mayo Clinic

What Sets Mayo Clinic Apart

Mayo Clinic doctors trained in nervous system conditions (neurology) and other doctors diagnose people who have congenital myopathies.

To diagnose your 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 your muscle weakness and rule out other conditions. Your doctor may conduct several tests to diagnose your 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.

Mayo Clinic doctors trained in nervous system conditions (neurology) and other doctors treat people who have congenital myopathies.

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

  • Genetic counseling. Genetic counselors may help you understand the genetics of your condition.
  • Medications. Medications may help treat symptoms of some myopathies.
  • Nutritional and respiratory support. You may need nutritional or respiratory support as your condition progresses.
  • Orthopedic treatments. Orthopedic support devices or other treatments, such as surgery to correct or improve scoliosis, may help you manage your condition.
  • Physical, occupational or speech therapy. Physical, occupational or speech therapy may help you manage your symptoms.

Mayo Clinic works with hundreds of insurance companies and is an in-network provider for millions of people. In most cases, Mayo Clinic doesn't require a physician referral. Some insurers require referrals or may have additional requirements for certain medical care. All appointments are prioritized on the basis of medical need.

Doctors trained in neurology treat adults who have congenital myopathies at Mayo Clinic in Arizona.

For appointments or more information, call the Central Appointment Office at 800-446-2279 (toll-free) 8 a.m. to 5 p.m. Mountain Standard Time, Monday through Friday or complete an online appointment request form.

Doctors trained in neurology treat adults who have congenital myopathies at Mayo Clinic in Florida.

For appointments or more information, call the Central Appointment Office at 904-953-0853 8 a.m. to 5 p.m. Eastern time, Monday through Friday or complete an online appointment request form.

Doctors trained in neurology and other areas treat adults and children who have congenital myopathies at Mayo Clinic in Minnesota.

For appointments or more information, call the Central Appointment Office at 507-538-3270 7 a.m. to 6 p.m. Central time, Monday through Friday or complete an online appointment request form.

Doctors trained in pediatric neurology and pediatrics treat children who have congenital myopathies at Mayo Clinic in Minnesota. Children requiring hospitalization are cared for in Mayo Eugenio Litta Children's Hospital at Mayo Clinic in Minnesota.

For appointments or more information, call the Central Appointment Office at 507-538-3270 7 a.m. to 6 p.m. Central time, Monday through Friday or complete an online appointment request form.

Mayo Clinic doctors and researchers actively study causes, genetics, and new diagnostic and treatment options for congenital myopathies. Read more about research on the neurology research website.

See a list of publications by Mayo Clinic doctors on congenital myopathies on PubMed, a service of the National Library of Medicine.

Apr. 30, 2014