Why choose Mayo Clinic

By Mayo Clinic Staff

Appointments

Mayo Clinic accepts appointments in Arizona, Florida and Minnesota and at Mayo Clinic Health System sites.

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  • Experience. Mayo Clinic doctors have experience evaluating and treating congenital myopathies, although these conditions are rare.
  • Team approach. Mayo Clinic doctors trained in nervous system conditions (neurology), neuromuscular diseases, hereditary conditions (medical genetics), heart conditions (cardiology), lung and breathing 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 have studied 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, called 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. This condition causes muscle weakness in the arms, legs, trunk, neck and face.
  • 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 also may 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, a type of centronuclear myopathy, occurs only in males and 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.

Diagnosis

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. Your doctor will conduct a physical and 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. Your doctor may order blood tests to test for 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. Your doctor may recommend genetic testing to verify a particular mutation.
  • Muscle biopsy. A specialist may remove a small sample of tissue (biopsy) from a muscle to test.

Read more about electrocardiogram, electromyography and genetic testing at MayoClinic.com.

Treatment

Mayo Clinic doctors trained in nervous system conditions (neurologists) 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 to 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 in Rochester, Minn., is ranked among the Best Hospitals for neurology & neurosurgery and ear, nose & throat by U.S. News & World Report. Mayo Clinic also ranks among the Best Children's Hospitals in neurology & neurosurgery.

Nov. 19, 2012