EMERY DREIFUSS MUSCULAR DYSTROPHY (EDMD)

LMNA GENE ANALYSIS

Emery-Dreifuss muscular dystrophy (EDMD) is characterized by the clinical triad of joint contractures, slowly progressive muscle weakness and wasting, and cardiomyopathy with conduction defects. Age of onset, severity, and progression of muscle and cardiac involvement is variable; clinical variability ranges from early onset with severe presentation in childhood to late onset with slow progression in adulthood.

Disease-causing variants in the LMNA gene encoding nuclear lamin A/C are identified by sequencing analysis in 45% of patients with the autosomal dominant form of EDMD (AD-EDMD).  Only a single patient with an autosomal recessive form of EDMD due to a homozygous LMNA variant has been reported (Raffaele et al 2000 Am J Hum Genet 66, 1407–1412).

The laboratory participates in the European Molecular Genetics Quality Network (EMQN) sequencing scheme.