An uncommon variant of rare type of muscular dystrophy

Jayashankar C. A., D. S. Somasekar, Adoor Gurucharan, Pavan Kumar Perugu, Ashwath S. V., K.V. Santosh


The muscular dystrophies are a group of hereditary degenerative diseases characterised by progressive myopathy. Emery-Dreifuss muscular dystrophy (EDMD) is a rare genetically heterogenous type of muscular dystrophy characterized by early contractures (especially in the neck, elbows and ankles), slowly progressing muscle weakness more prominent in humeroperoneal region, onset in early childhood and cardiac problems. Emery-Dreifuss muscular dystrophy is commonly inherited in an X linked recessive pattern and rarely autosomal dominant inheritance or autosomal recessive fashion. Here we report a case of autosomal recessive type of Emery-Dreifuss muscular dystrophy from our hospital.


Emery dreifuss muscular dystrophy, Contractures, Autosomal recessive

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Nelson MR. Rehabilitation concerns in myopathies. In: Randall LB. Physical medicine and rehabilitation, 2nd ed. Philad¬delphia, Saunders, 2000:1009-45.

Felice KJ, Schwartz RC, Brown CA, Leicher CR, Grunnet ML. Autosomal dominant Emery-Dreifuss dystrophy due to mutations in rod domain of the lamin A/C gene. Neurology.2000 Jul 25;(2):275-80.

Emery AEH, Dreifuss FE. Unusual type of benign X-linked muscular dystrophy. J Neurol Neurosurg Psychiatry.1966;29:338-42.

Fenichel GM, Sul YC, Kilroy AW, Blouin R. An autosomal-dominant dystrophy with humeropelvic distribution and cardiomyopathy. Neurology.1982 Dec;32(12):1399-401.

Taylor J, Sewry CA, Dubowitz V, Muntoni F. Early onset autosomal recessive muscular dystrophy with Emery–Dreifuss phenotype and normal emerin expression. Neurology 1998 Oct; 51(4):1116-20.

Emery AE. Emery-Dreifuss muscular dystrophy: a 40 year retrospective. Neuromuscul Disord. 2000 Jun;10(4-5):228-32.

Malvinder S. Parmar, Kamalpreet S. Parmar. Emery-Dreifuss Humeroperoneal Muscular Dystrophy: Cardiac Manifestations. Canadian Journal of Cardiology. July 2012;28(4):516.e1-516.e3.

P. Yazdanpanah, A. Javan, B. Nadimi and H.R. Ghaffarian Shirazi. Genetic pattern of 3 cases of Emery-Dreifuss muscular dystrophy in a family. Eastern Mediterrnean Health Journal. 2007;13(10):201-5.

J. Colomer, C. Iturriaga, G. Bonne, K. Schwartz, S. Manilal, G.E. Morris, et al. Autosomal dominant Emery-Dreifuss muscular dystrophy: a new family with late diagnosis. Neuromuscl Disord 2002 January;12(1):19-25.

Jennekens FG, ten Kate LP, de Visser M, Wintzen AR. Diagnostic criteria for Duchenne and Becker muscular dystrophy and myotonic dystrophy. Neuromuscul Disord 1991;1(6):389-91.

N. Gayathri, A.B. Taly, S. Sinha, T. G. Suresh, D. Gorai. Emery Dreifuss muscular dystrophy: A clinic-pathological study. Neurology India. 2000 April-June;54(2):197-9.

Jong-Seo Hong, Chang-Seok Ki, Jong-Won Kim, Yeon-Lim Suh, June Soo Kim, Kyung Kee Baek, et al. Cardiac Dysrhythmias, Cardiomyopathy and Muscular Dystrophy in patients with Emery –Dreifuss Muscular Dystrophy and Limb- Girdle Muscular Dystrophy Type 1B. J Korean Med Sci. 2005 April; 20(2):283-90.