This report describes general characteristics of the group of diseases classified as congenital myopathy (CMYP). Congenital myopathy is a genetically heterogeneous disorder, with multiple genes and mapped loci. A comprehensive list of CMYP subtypes, as defined by OMIM, can be found by following the link in the "OMIM phenotypic series" sub-section of the "Related Diseases" section, below. The accompanying table links to more detailed reports for subtypes that have been investigated using fly models.
See also human disease models categorized as centronuclear myopathy (FBhh0000074), nemaline myopathy (FBhh0000584), and myofibrillar myopathy (FBhh0000595).
[updated Jul. 2023 by FlyBase; FBrf0222196]
Congenital myopathy is a term for any genetic muscle disorder that is typically noticed at birth and includes weakness and lack of muscle tone. Some congenital myopathies may not show symptoms until infancy or childhood. There are many types of congenital myopathy with varying severity. Some symptoms may remain stable or progress slowly. The following is a range of symptoms: lack of muscle control and weakness; difficulty breathing; difficulty eating; slow to reach developmental goals; delayed motor skills; skeletal problems. (https://www.ninds.nih.gov/health-information/disorders/congenital-myopathy#:~:text=Congenital%20myopathy)
