2015AAN/AANEM循证指南：先天性肌营养不良的评估、诊断及管理

Congenital muscular dystrophy are often autosomal recessive, but some cases have been found to follow autosomal dominant patterns, by direct inheritance, spontaneous mutations, or mosaicism. The genetic origins of many cases of CMD have been discovered. However, many affected individuals remain without a genetic diagnosis, an indicator that novel disease genes have yet to be identified. Clinical genetic testing is available for virtually all genes known to be associated with CMD.

Due in part to recent genetic advances, a broader phenotypic spectrum is now recognized for CMD, and the exact age at onset may be difficult to define in some cases, especially for the milder variants. Thus, MDs with onset in the first 2 years of life, especially during infancy (the first year of life), are now commonly considered to be CMDs. One lingering nosological question is whether a later-onset disease that is allelic to a CMD should be classified as a CMD or a different disease.