Abstract
Emery-Dreifuss muscular dystrophy is a rare hereditary neuromuscular disease. Its manifestations begin primarily in childhood. The most frequent manifestations are progressive muscle weakness, atrophy that usually begins in the scapula-vertebral region, extending later to the pelvic girdle, and spinal stiffness. Patients can also manifest cardiac involvement as palpitations, syncope, exercise intolerance, congestive heart failure, and variable heart rhythm disturbances.11. Bonne G, Leturcq F, Ben Yaou R. Emery-Dreifuss Muscular Dystrophy. 2004 Sep 29 [updated 2019 Aug 15]. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington; 1993–2023.
2. Heller SA, Shih R, Kalra R, Kang PB. Emery-Dreifuss Muscular Dystrophy. Muscle Nerve. 2020;61(4):436-48. doi: 10.1002/mus.26782.
https://doi.org/10.1002/mus.26782...
- 33. Madej-Pilarczyk A. Clinical Aspects of Emery-Dreifuss Muscular Dystrophy. Nucleus. 2018;9(1):268-74. doi: 10.1080/19491034.2018.1462635.
https://doi.org/10.1080/19491034.2018.14...
The presence and severity of these manifestations can vary according to the individual and the disease’s subtypes. 22. Heller SA, Shih R, Kalra R, Kang PB. Emery-Dreifuss Muscular Dystrophy. Muscle Nerve. 2020;61(4):436-48. doi: 10.1002/mus.26782.
https://doi.org/10.1002/mus.26782...
Cardiac involvement is the most worrisome feature of this disease, and there are some reports of the need for heart transplantation in this dystrophy. 44. Dell’Amore A, Botta L, Suarez SM, Lo Forte A, Mikus E, Camurri N, et al. Heart Transplantation in Patients with Emery-Dreifuss Muscular Dystrophy: Case Reports. Transplant Proc. 2007;39(10):3538-40. doi: 10.1016/j.transproceed.2007.06.076.
https://doi.org/10.1016/j.transproceed.2...
Heart Transplant; Emery-Dreifuss Muscular Dystrophy; Cardiac Rehabilitation