Duchenne muscular dystrophy other diagnostic studies

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Fahimeh Shojaei, M.D.

Overview

Other diagnostic studies for Duchenne muscular dystrophy include:^[1]^[2]^[3]

Genetic testing, which demonstrates:
- Different mutations such as deletion, duplication, etc.
Muscle biopsy, which demonstrates:
- Replacement of muscle by fat and connective tissue
- Muscle degeneration
- Muscle regeneration
- Opaque hypertrophic fibers
Electromyography , which demonstrates:
- Polyphasic potentials indicating myopathic changes.

↑ Birnkrant DJ, Bushby K, Bann CM, Apkon SD, Blackwell A, Brumbaugh D, Case LE, Clemens PR, Hadjiyannakis S, Pandya S, Street N, Tomezsko J, Wagner KR, Ward LM, Weber DR (March 2018). “Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management”. Lancet Neurol. 17 (3): 251–267. doi:10.1016/S1474-4422(18)30024-3. PMC 5869704. PMID 29395989.
↑ Cummings BB, Marshall JL, Tukiainen T, Lek M, Donkervoort S, Foley AR, Bolduc V, Waddell LB, Sandaradura SA, O’Grady GL, Estrella E, Reddy HM, Zhao F, Weisburd B, Karczewski KJ, O’Donnell-Luria AH, Birnbaum D, Sarkozy A, Hu Y, Gonorazky H, Claeys K, Joshi H, Bournazos A, Oates EC, Ghaoui R, Davis MR, Laing NG, Topf A, Kang PB, Beggs AH, North KN, Straub V, Dowling JJ, Muntoni F, Clarke NF, Cooper ST, Bönnemann CG, MacArthur DG (April 2017). “Improving genetic diagnosis in Mendelian disease with transcriptome sequencing”. Sci Transl Med. 9 (386). doi:10.1126/scitranslmed.aal5209. PMC 5548421. PMID 28424332.
↑ Desmedt, John E. (1976). “Regeneration in Duchenne Muscular Dystrophy”. Archives of Neurology. 33 (9): 642. doi:10.1001/archneur.1976.00500090048010. ISSN 0003-9942.