Congenital muscular dystrophy

The congenital muscular dystrophies ( congenital muscular dystrophies german, short CMD or MDC) is a group of muscle diseases that belong to the muscular dystrophies. These are inherited diseases that are mainly inherited as an autosomal recessive trait. The clinical manifestations are highly variable ( heterogeneous). The common clinical features of congenital muscular dystrophies are an existing from birth ( congenital ) muscle weakness with hypotonia and delayed motor development. Histological characteristics of muscular dystrophy can be detected. In addition to the muscles particularly the brain and eye, may be involved. The congenital muscular dystrophies are distinguished from the congenital myopathies with structural abnormalities by a lack of ultrastructural changes of the muscle fibers. The congenital muscular dystrophies are inherited primarily as an autosomal recessive trait.

Classification

There are several ways of classification of congenital muscular dystrophies. For most diseases in this group the involved genes and gene products have been identified, so that a genetic classification of congenital muscular dystrophies is also possible. A gene - table of its associated diseases is regularly published in the journal Neuromuscular Disorders. Currently, the release of 2009, which complements an HTML version to make links also freely available.

Frequency

There is little data on the prevalence of congenital muscular dystrophies. The number of Neuerkankungen per year (incidence) was estimated in northeast Italy on 1:21500 and 1:16000 in Western Sweden.

Clinical manifestations

In addition to muscle weakness also a existing from birth, hypotonia is typical of what is also known as floppy infant. In addition, also from birth, already exist contractures and joint deformities.