Pediatric Congenital Myopathy
Congenital myopathies are a group of rare, congenital (present at birth) muscle diseases that are caused by genetic defects.
While there are several different types of congenital myopathies, most share common features, such as lack of muscle tone and weakness. There are no cures for these conditions, and they are usually managed through various therapies and lifestyle adaptations.
Specific conditions that fall under the classification of congenital myopathy are:
- Central core disease – This type is characterized by muscle weakness and developmental problems.
- Centronuclear myopathies – These rare types cause muscle weakness in the face, arms, legs and eye muscles, as well as difficulty breathing.
- Congenital fiber type disproportion myopathy – This type is usually evident at birth and causes loss of muscle tone, general muscle weakness and delays in motor development.
- Multiminicore disease – This type causes severe muscle weakness in the arms and legs, as well as scoliosis.
- Myotubular myopathy – This rare congenital myopathy only occurs in males and causes muscle weakness, floppiness and breathing problems.
- Nemaline myopathy – This congenital myopathy causes muscle weakness in the face, neck, arms and legs, as well as scoliosis and breathing and feeding problems.
In many cases, the signs and symptoms of a congenital myopathy do not appear until later in infancy* (birth to 1 year) or any time later in childhood.
- Delayed motor skills
- Drooping eyelids
- Lack of muscle tone
- Muscle cramps or contractions
- Muscle weakness
- Noticeable facial weakness
*Age of infants as defined by the World Health Organization (WHO).