Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Duchenne muscular dystrophy other diagnostic studies
Introduction
Overview
Overview
Other diagnostic studies for Duchenne muscular dystrophy include genetic testing, muscle biopsy, Electromyography.
Other Diagnostic Studies
Other Diagnostic Studies
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.
References
References
- ↑ 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.
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Fahimeh Shojaei, M.D.