The congenital myopathies are genetic diseases resulting in skeletal muscle abnormalities. They are often apparent at birth, but may not manifest symptoms until later in life.
Categorization of Congenital Myopathies
Since there is considerable overlap in the clinical features of these diseases, it is not possible to diagnose specific congenital myopathies based on signs and symptoms alone.
Traditionally, congenital myopathies have been categorized according to the features found on pathologic preparations.
As our understanding of the genetic causes of these disease improves, it is becoming possible to make more specific and practical categorization of congential myopathies on the basis of genetic testing.
Specific Congenital Myopathies
Many congenital myopathies have been described. Some are more common, or more widely recorgnized than others. Some examples of congenital myopathies are listed below. This is not meant to be an exhaustive list.
- Congenital Muscular Dystrophies
- Nemaline Myopathy
- Central Core Disease
- Centronuclear Myopathy / Myotubular Myopathy
- Multicore Disease / Minicore Disease
- Congenital Fiber-Type Disproportion
- Reducing Body Myopathy
- Myopathy with Tubular Aggregates
Together, central core disease, nemaline myopathy, and centronuclear myopathy are sometimes referred to as "classical" congenital myopathies, as they are most firmly established.
Each of these myopathies is discussed in more detail in the links below.
References:
Katirji, B., Kaminsky, H.J., Preston, D.C., Ruff, R.L., and Shapiro, B.E. (Eds.) (2002). Neuromuscular Disorders in Clinical Practice. Butterworth Heinemann, Boston. (ISBN:0750671696) Pp. 1114-1127.
Prayson, R.A., and Goldblum, J.R. (Eds.) (2005). Neuropathology. Elsevier Churchill Livingstone, Philadelphia. (ISBN:0443066582) Pp. 537-581.
