Overview

Emery-Dreifuss muscular dystrophy is a condition that chiefly affects muscles used for movement (skeletal muscles) and heart (cardiac) muscle. Most affected individuals experience joint deformities called contractures, slowly progressive muscle weakness and wasting, beginning in muscles of the upper arms and lower legs and progressing to muscles in the shoulders and hips. Mutations in the Emerin (EMD) and Lamin (LMNA) genes cause of X-linked and autosomal dominant Emery-Dreifuss muscular dystrophy.

Category

Cost

The difference between combined panels.

Reporting time

6-8 weeks

Contacts

Dr Belinda Chong

Phone (03) 9936 6550

Specimen Requirements

EDTA blood: Adult: 2 x 5 ml

Child: 2 x 1-3 ml

Notes

Patient to be referred to specialist inherited cancer physician.