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.