Title: Selectivity of muscle sparing in Emery–Dreifuss muscular dystrophy
Abstract: The clinical features of Emery-Dreifuss muscular dystrophy (EDMD) are quite distinctive: early contractures of the Achilles tendons, elbows and post-cervical muscles, slowly progressive muscle weakness with an essentially humero-peroneal distribution at the beginning, and cardiac conduction defects. The X-linked (EDMD1) and autosomal dominant (EDMD2) forms of the disease are clinically similar and are caused by defects of the nuclear membrane proteins emerin and lamins A/C, respectively. The selective pattern of muscle involvement in EDMD2 has been confirmed with muscle CT and MRI [ 1 Merlini L. Emery–Dreifuss muscular dystrophy. in: Katirji B. Kaminski H. Preston D. Ruff R. Shapiro B. Neuromuscular disorders in clinical practice. Butterworth Heinemann, Boston2001: 1106-1113 Google Scholar , 2 Mercuri E. Counsell S. Allsop J. et al. Selective muscle involvement on magnetic resonance imaging in autosomal dominant Emery–Dreifuss muscular dystrophy. Neuropediatrics. 2002; 33: 10-14 Crossref PubMed Scopus (79) Google Scholar ]. Patients with EDMD2 show a characteristic involvement of the posterior calf muscles particularly of the medial head of the gastrocnemius while the lateral head is relatively spared at the beginning [ 1 Merlini L. Emery–Dreifuss muscular dystrophy. in: Katirji B. Kaminski H. Preston D. Ruff R. Shapiro B. Neuromuscular disorders in clinical practice. Butterworth Heinemann, Boston2001: 1106-1113 Google Scholar , 2 Mercuri E. Counsell S. Allsop J. et al. Selective muscle involvement on magnetic resonance imaging in autosomal dominant Emery–Dreifuss muscular dystrophy. Neuropediatrics. 2002; 33: 10-14 Crossref PubMed Scopus (79) Google Scholar ]. With regard to thigh muscles, vastii muscles, hamstrings and adductors are all involved to varying degrees [ 1 Merlini L. Emery–Dreifuss muscular dystrophy. in: Katirji B. Kaminski H. Preston D. Ruff R. Shapiro B. Neuromuscular disorders in clinical practice. Butterworth Heinemann, Boston2001: 1106-1113 Google Scholar , 2 Mercuri E. Counsell S. Allsop J. et al. Selective muscle involvement on magnetic resonance imaging in autosomal dominant Emery–Dreifuss muscular dystrophy. Neuropediatrics. 2002; 33: 10-14 Crossref PubMed Scopus (79) Google Scholar ]. On the contrary the selective muscle sparing in EDMD2 has not received much attention yet.
Publication Year: 2009
Publication Date: 2009-05-08
Language: en
Type: article
Indexed In: ['crossref', 'pubmed']
Access and Citation
Cited By Count: 6
AI Researcher Chatbot
Get quick answers to your questions about the article from our AI researcher chatbot