Muscular dystrophy
| Subclass of | genetic peripheral neuropathy, muscular disease  |
|---|---|
| Health specialty | neurology, pediatrics, medical genetics |
| External data available at URL | http://www.nanbyou.or.jp/entry/4522 |
| ICD-9-CM | 359.1 |
Muscular dystrophy (MD) be a genetically den clinically heterogeneous group of rare neuromuscular diseases wey cause progressive weakness den breakdown of skeletal muscles over time.[1] De disorders dey differ as to wich muscles be primarily affected, de degree of weakness, how fast dem dey worsen, den wen symptoms begin.[1] Sam types sanso be associated plus problems insyd oda organs.[2]
Over 30 different disorders be classified as muscular dystrophies.[1][2] Of those, Duchenne muscular dystrophy (DMD) dey account give approximately 50% of cases den dey affect males beginning around de age of four.[1] Oda relatively common muscular dystrophies dey include Becker muscular dystrophy, facioscapulohumeral muscular dystrophy, den myotonic dystrophy,[1] whereas limb–girdle muscular dystrophy den congenital muscular dystrophy demselves be groups of several – usually extremely rare – genetic disorders.
Muscular dystrophies be caused by mutations insyd genes, usually those dem involve insyd making muscle proteins.[2] De muscle protein dystrophin dey insyd most muscle cells den works to strengthen de muscle fibers den protect dem from injury as muscles contract den relax.[3] E dey link de muscle membrane to de thin muscular filaments within de cell. Dystrophin be an integral part of de muscular structure. An absence of dystrophin fi cause impairments: healthy muscle tissue fi be replaced by fibrous tissue den fat, wey dey cause an inability to generate force.[4] Respiratory den cardiac complications fi occur as well. Dese mutations either be inherited from parents anaa fi occur spontaneously during early development.[2] Muscular dystrophies fi be X-linked recessive, autosomal recessive, anaa autosomal dominant.[2] Diagnosis often dey involve blood tests den genetic testing.[2]
Der be no cure for any disorder from de muscular dystrophy group.[1] Several drugs dem design to address de root cause be currently available wey dey include gene therapy (Elevidys), den antisense drugs (Ataluren, Eteplirsen etc.).[2] Oda medications dem use include glucocorticoids (Deflazacort, Vamorolone); calcium channel blockers (Diltiazem); to slow skeletal den cardiac muscle degeneration, anticonvulsants to control seizures den sam muscle activity, den Histone deacetylase inhibitors (Givinostat) to delay damage to dying muscle cells.[1] Physical therapy, braces, den corrective surgery fi help plus sam symptoms[1] while assisted ventilation fi be required insyd those plus weakness of breathing muscles.[2]
Outcomes dey depend on de specific type of disorder.[1] Chaw affected people go eventually cam be unable to walk[2] wey Duchenne muscular dystrophy in particular be associated plus shortened life expectancy.
Na muscular dystrophy be first described insyd de 1830s by Charles Bell.[2] De word "dystrophy" dey cam from de Greek dys, wey dey mean "no, un-" den troph- wey dey mean "nourish".[2]
Signs den symptoms
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De signs den symptoms consistent plus muscular dystrophy are:[5]
- Progressive muscular wasting
- Poor balance
- Scoliosis (abnormal curvature of de spine anaa de back)[6]
- Muscle contracture dey lead to limited range of movement of joints.[6]
- Muscle spasms
- Progressive inability to walk
- Waddling gait
- Gowers' sign as insyd Duchenne muscular dystrophy.
- Calf deformation as insyd Duchenne muscular dystrophy.
- Respiratory difficulty [7]
- Cardiomyopathy[8]
References
[edit | edit source]- 1 2 3 4 5 6 7 8 9 "NINDS Muscular Dystrophy Information Page". NINDS. March 4, 2016. Archived from the original on 30 July 2016. Retrieved 12 September 2016.
- 1 2 3 4 5 6 7 8 9 10 11 "Muscular Dystrophy: Hope Through Research". NINDS. March 4, 2016. Archived from the original on 30 September 2016. Retrieved 12 September 2016.
- ↑ Gao, Q. Q.; McNally, E. M. (2011-01-17). Terjung, Ronald (ed.). Comprehensive Physiology (in English). Vol. 5 (1 ed.). Wiley. pp. 1223–1239. doi:10.1002/cphy.c140048. ISBN 978-0-470-65071-4. PMC 4767260. PMID 26140716.
- ↑ Gao, Quan Q.; McNally, Elizabeth M. (2015-06-24). "The Dystrophin Complex: Structure, Function, and Implications for Therapy". Comprehensive Physiology. 5 (3): 1223–1239. doi:10.1002/cphy.c140048. ISBN 9780470650714. PMC 4767260. PMID 26140716.
- ↑ Muscular Dystrophy Clinical Presentation at eMedicine
- 1 2 El-Sobky, Tamer A.; Abdulhady, Hala; Mahmoud, Shady; Amen, John (31 January 2024). "Orthopedic manifestations of congenital muscular dystrophy subtypes in children: Emerging signatures need consolidation: a scoping review". Journal of Musculoskeletal Surgery and Research. 8 11: 11–23. doi:10.25259/JMSR_229_2023.
- ↑ Birnkrant, DJ; Bushby, K; Bann, CM; Alman, BA; Apkon, SD; Blackwell, A; Case, LE; Cripe, L; Hadjiyannakis, S; Olson, AK; Sheehan, DW; Bolen, J; Weber, DR; Ward, LM (April 2018). "Diagnosis and management of Duchenne muscular dystrophy, part 2: respiratory, cardiac, bone health, and orthopaedic management". The Lancet. Neurology. 17 (4): 347–361. doi:10.1016/S1474-4422(18)30025-5. PMC 5889091. PMID 29395990.
- ↑ Bădilă, E; Lungu, II; Grumezescu, AM; Scafa Udriște, A; Rosenthal, David; Duboc, Denis; Melacini, Paola (12 May 2021). "Diagnosis of Cardiac Abnormalities in Muscular Dystrophies". Medicina (Kaunas, Lithuania). 57 (5): 488. doi:10.3390/medicina57050488. PMC 8151418. PMID 34066119.
Read further
[edit | edit source]- De Los Angeles Beytía, Maria; Vry, Julia; Kirschner, Janbernd (2012). "Drug treatment of Duchenne musculardystrophy: available evidence and perspectives". Acta Myologica. 31 (1): 4–8. PMC 3440798. PMID 22655510.
- Bertini, Enrico; D'Amico, Adele; Gualandi, Francesca; Petrini, Stefania (December 2011). "Congenital Muscular Dystrophies: A Brief Review". Seminars in Pediatric Neurology. 18 (4): 277–288. doi:10.1016/j.spen.2011.10.010. PMC 3332154. PMID 22172424.
External links
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