Congenital myopathy

Congenital myopathy
Classification and external resources
ICD-10	G71.2
ICD-9	359.0
eMedicine	article/1175852
MeSH	D020914

Congenital myopathy is a term for any muscle disorder present at birth.^[1] By this definition the congenital myopathies could include hundreds of distinct neuromuscular syndromes and disorders. Congenital myopathies do not show evidence for either a progressive dystrophic process (i.e., muscle death) or inflammation, but instead characteristic microscopic changes are seen in association with reduced contractile ability of the muscles. In general, congenital myopathies cause loss of muscle tone and muscle weakness in infancy and delayed motor milestones, such as walking, later in childhood.

Types

The conditions included under the term "congenital myopathy" can vary. One source includes nemaline myopathy, myotubular myopathy, central core myopathy, congenital fiber type disproportion, and multicore myopathy.^[2] The term can also be used more broadly, to describe conditions present from birth.

External links

• GeneReviews/NCBI/NIH/UW entry on Congenital Fiber-Type Disproportion

References

1. ^ The first version of this article incorporates material from the National Institute of Neurological Disorders and Stroke document "Congenital Myopathy Information Page" at http://www.ninds.nih.gov/disorders/myopathy_congenital/myopathy_congenital.htm As a work of an agency of the U.S. Government without any other copyright notice it should be available as a public domain resource.
2. ^ http://www.merck.com/mmpe/sec19/ch295/ch295c.html