A 32-year-old woman is described as having the following characteristics of Emery-Dreifuss muscular dystrophy: humeroperoneal muscular atrophy and weakness, neck and elbow contractures with sinus bradycardia, first-degree atrioventricular block, and dilated cardiomy opathy. The biopsy specimen of skeletal muscle showed dystrophic character; a cardiac endomyocardial biopsy specimen showed adipose tissue infiltration and deposition of antihuman IgG. Emery-Dreifuss muscular dystrophy is an X-linked recessive myopathy. The patient had no familial background of the disease. This patient might have a sporadic inheri tance pattern with severe cardiac involvement.
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References
1.
Emery Aeh, Dreifuss FE: Unusual type of benign X-linked muscular dystrophy. J Neurol Neurosurg Psychiatry29:338-342, 1966.
2.
Waters DD, Nutter DO, Hopkins LC, et al: Cardiac features of an unusual X-linked humeroperonal muscular disease. N Engl J Med293:1017-1022, 1975 .
3.
Bialer MG, McDaniel NL, Kelly TE: Progression of cardiac disease in Emery-Dreifuss muscular dystrophy . Clin Cardiol14:411-416, 1991.
4.
Wyse G., Nath FC, Brownell Akw: Benign X-linked (Emery-Dreifuss) muscular dystrophy is not benign . PACE10:533-539, 1987.
5.
Emery Aeh: X-linked muscular dystrophy with early contractures and cardiomyopathy (Emery-Dreifuss type). Clin Genet32:360-367, 1987.
6.
Miller RG, Layzer RB, Mellesthin MA, et al: Emery-Dreifuss muscular dystrophy with autosomal dominant transmission . Neurology35:1230-1233, 1985 .
7.
Fenichel GM, Sul YC, Kilroy AW, et al: An autosomal-dominant dystrophy with humeropelvic distribution and cardiomyopathy. Neurology32:1399-1401, 1982.
8.
Voit T., Krogmann O., Lenard HG, et al: Emery-Dreifuss muscular dystrophy disease spectrum and differential diagnosis. Neuropediatrics19:62-71, 1988.
9.
Hassan ZU, Fastabend CP, Mohanty PK, et al: Atrioventricular block and supraventricular arrhythmias with X-linked muscular dystrophy. Circulation60:1365-1371, 1979.
10.
Consalez GC , Thomas Nst, Stayton CL, et al: Assignment of Emery-Dreifuss muscular dystrophy to the distal region of Xq28: The results of a collaborative study . Am J Hum Genet48:468-480, 1991.
11.
Bione S., Small K., Aksmanovic YM, et al: Identification of de nova mutations in the Emery-Dreifuss muscular dystrophy gene and evidence for genetic heterogeneity of the disease. Hum Mol Genet4:1859-1863, 1995 .
12.
Takamoto K. , Hirose K., Uono M., et al: A genetic variant of Emery-Dreifuss disease. Arch Neurol41 :1292-1293, 1984.
13.
Fishbein MC , Siegel RJ, Thompson LE, et al: Sudden death of a carrier of X-linked muscular dystrophy. Ann Intern Med119:900-905, 1993.
14.
Rees W., Schuler S., Hummel M., et al: Heart transplantation in patients with muscular dystrophy associated with end-stage cardiomyopathy. J Heart Lung Transplant12:804-807, 1993.
