Indication
This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Diagnosis, Predictive, Prognostic, Recurrence
Emery-Dreifuss muscular dystrophy (EDMD) is characterized by the clinical triad of: joint contractures that begin in early childhood; slowly progressive muscle weakness and wasting initially in a humero-peroneal distribution that later extends to the scapular and pelvic girdle muscles; and cardiac involvement that may manifest as palpitations, presyncope and syncope, poor exercise tolerance, and congestive heart failure along with variable cardiac rhythm disturbances. Age of onset, severity, and progression of muscle and cardiac involvement demonstrate both inter- and intrafamilial variability. Clinical variability ranges from early onset with severe presentation in childhood to late onset with slow progression in adulthood. In general, joint contractures appear during the first two decades, followed by muscle weakness and wasting. Cardiac involvement usually occurs after the second decade and respiratory function may be impaired in some individuals.
The target population for this test is patients suspected of having a diagnosis of a neuromuscular disorder. Please note, this assay includes analysis for the recurrent c.930+189C>T deep intronic variant in the COL6A1 gene.
Not provided
Establish or confirm diagnosis
Citations- 1. Laing, N.G., Genetics of neuromuscular disorders. Crit Rev Clin Lab Sci, 2012. 49(2): p. 33-48. 2. Reed, U.C., Congenital muscular dystrophy. Part II: a review of pathogenesis and therapeutic perspectives. Arq Neuropsiquiatr, 2009. 67(2A): p. 343-62. 3. Hicks, D., et al., Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy. Hum Mol Genet, 2014. 23(9): p. 2353-63. 4. Brislin, R.P. and M.C. Theroux, Core myopathies and malignant hyperthermia susceptibility: a review. Paediatr Anaesth, 2013. 23(9): p. 834-41. 5. Jungbluth, H., et al., Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene. Neuromuscul Disord, 2007. 17(4): p. 338-45. 6. Pierson, C.R., et al., X-linked myotubular and centronuclear myopathies. J Neuropathol Exp Neurol, 2005. 64(7): p. 555-64. 7. Fardeau, M. and F. Tome, Congenital Myopathies, in Myology, A. Engel and C. Franzini-Armstrong, Editors. 1994, McGraw-Hill
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