Emery Dreifuss Muscular Dystrophy
Emery Dreifuss Muscular Dystrophy is characterized by joint contractures (onset in early childhood), slowly progressive muscle wasting and weakness and cardiac conduction defects. Muscle wasting and weakness exhibit a distinctive humero-peroneal distribution early in the course of the disease, with weakness later extending to the proximal limb girdle musculature. Cardiac involvement, which usually occurs after the second decade and is the most serious aspect of the disease, may manifest as palpitations, presyncope and syncope, poor exercise tolerance and congestive heart failure. Heterogeneity in presenting symptoms can occur even amongst affected members of the same family.
Rigid Spine Muscular Dystrophy
Rigid Spine syndrome is a condition found in a subset of patients affected by myopathy with early contractures. It is characterized by marked limitation in flexion of the whole dorsolumbar and cervical spine, owing to contracture of the spinal extensors and leading to loss of movement of the spine and thoracic cage. Spinal rigidity can also be seen in patient with Emery Dreifuss Muscular Dystrophy. Clinical critieria for patients with rigid spine syndrome are similar to those observed in congenital muscular dystrophies, as such, the rigid spine syndrome phenotype has been proposed as a subtype of CMD.
Our Congenital Myopathy with Prominent Contractures Del/Dup Panel includes all of the following genes: COL6A1, COL6A2, COL6A3, EMD, LMNA, MYH7, RYR1, SEPN1, SYNE1, SYNE2, TMEM43