Congenital Myopathy

Congenital myopathy refers to a group of muscle disorders that appear at birth or during infancy. For more severely affected infants with congenital myopathy, he or she will be "floppy," having generalized severe weakness, have difficulty breathing or feeding, and will not meeting normal developmental milestones such as turning over or sitting up. Skeletal abnormalities such as curvature of the spine, hip problems and other joint contractures are also commonly seen.

Presentation can be very variable. While some children have only mild weakness and are eventually able to walk independently, otherhave droopy eyelids with limitation of voluntary eye movement. This group of disorders is generally thought to be a non- or slowly progressive condition.

Classifications

Based on the muscle biopsy findings, there are 7 major subtypes:

• Central core disease
• Multi-minicore mypopathy
• Nemaline (rod) myopathy
• Myotubular myopathy
• Central nuclear myopathy
• Congential fiber type disproportion
• Hyaline body myopathy

Diagnosis

Complex tests may be needed to work out the causes of congenital myopathies in an affected individual. Muscle enzymes (Creatine Kinases) are usually normal or mildly elevated. Electromyography will show myopathic involvement. Muscle biopsy for special stainings and the genetic study help to confirm the diagnosis.