Back حثل عضلي دوشيني Arabic Міядыстрафія Дзюшэна Byelorussian Duchenneova mišićna distrofija BS Distròfia muscular de Duchenne Catalan نەخۆشی دیسترۆفی ماسولکەیی دوشێن CKB Duchennova svalová dystrofie Czech Muskeldystrophie Duchenne German Μυϊκή δυστροφία Ντουσέν Greek Distrofia muscular de Duchenne Spanish Duchenne-ren muskulu-distrofia Basque

Duchenne muscular dystrophy

Duchenne muscular dystrophy
Microscopic image of cross-sectional calf muscle from a person with Duchenne muscular dystrophy, showing extensive replacement of muscle fibers by fat cells.
Pronunciation
SpecialtyPediatric neurology, neuromuscular medicine, medical genetics
SymptomsMuscle weakness, trouble standing up, scoliosis[2][3][4]
Usual onsetAround age 4[2]
CausesGenetic (X-linked recessive)[3]
Diagnostic methodGenetic testing[3]
TreatmentPharmacological treatment, physical therapy, braces, speech therapy, occupational therapy, surgery, assisted ventilation[2][3]
MedicationCorticosteroids
Prognosislife expectancy: 28–30 years
FrequencyIn males, 1 in 3,500-6,000[3]
In females, 1 in 50,000,000[5]

Duchenne muscular dystrophy (DMD) is a severe type of muscular dystrophy predominantly affecting boys.[3][6][7] The onset of muscle weakness typically begins around age four, with rapid progression.[2] Initially, muscle loss occurs in the thighs and pelvis, extending to the arms,[3] which can lead to difficulties in standing up.[3] By the age of 12, most individuals with Duchenne muscular dystrophy are unable to walk.[2] Affected muscles may appear larger due to an increase in fat content,[3] and scoliosis is common.[3] Some individuals may experience intellectual disability,[3] and females carrying a single copy of the mutated gene may show mild symptoms.[3]

Duchenne muscular dystrophy is caused by mutations and/or deletions in any of the 79 exons encoding the large dystrophin protein, which is essential for maintaining the muscle fiber's cell membrane integrity.[3] The disorder follows an X-linked recessive inheritance pattern, with approximately two-thirds of cases inherited from the mother and one-third resulting from a new mutation.[3] Diagnosis can frequently be made at birth through genetic testing, and elevated creatine kinase levels in the blood are indicative of the condition.[3]

While there is no known cure, management strategies such as physical therapy, braces, and corrective surgery may alleviate symptoms.[2] Assisted ventilation may be required in those with weakness of breathing muscles.[3] Several drugs designed to address the root cause are currently available including gene therapy (Elevidys), and antisense drugs (Ataluren, Eteplirsen etc.).[3] Other medications used include glucocorticoids (Deflazacort, Vamorolone); calcium channel blockers (Diltiazem); to slow skeletal and cardiac muscle degeneration, anticonvulsants to control seizures and some muscle activity, and Histone deacetylase inhibitors (Givinostat) to delay damage to dying muscle cells.[2][3]

Various figures of the occurrence of Duchenne muscular dystrophy are reported. One source reports that it affects about one in 3,500 to 6,000 males at birth.[3] Another source reports Duchenne muscular dystrophy being a rare disease and having an occurrence of 7.1 per 100,000 male births.[8] A number of sources referenced in this article indicate an occurrence of 6 per 100,000.[9]

Duchenne muscular dystrophy is the most common type of muscular dystrophy,[3] with a median life expectancy of 28–30 years.[10][11] However, with comprehensive care, some individuals may live into their 30s or 40s.[3] Duchenne muscular dystrophy is considerably rarer in females, occurring in approximately one in 50,000,000 live female births.[5]

  1. ^ "Duchenne". Merriam-Webster.com Dictionary. Merriam-Webster.
  2. ^ a b c d e f g "NINDS Muscular Dystrophy Information Page". National Institute of Neurological Disorders and Stroke (NINDS). 4 March 2016. Archived from the original on 30 July 2016. Retrieved 12 September 2016. Public Domain This article incorporates text from this source, which is in the public domain.
  3. ^ a b c d e f g h i j k l m n o p q r s t u "Muscular Dystrophy: Hope Through Research". National Institute of Neurological Disorders and Stroke (NINDS). 4 March 2016. Archived from the original on 30 September 2016. Retrieved 12 September 2016. Public Domain This article incorporates text from this source, which is in the public domain.
  4. ^ "Muscular Dystrophy". National Institute of Neurological Disorders and Stroke (NINDS). 30 October 2023. Archived from the original on 31 March 2024. Retrieved 31 March 2024. Public Domain This article incorporates text from this source, which is in the public domain.
  5. ^ a b Nozoe KT, Akamine RT, Mazzotti DR, Polesel DN, Grossklauss LF, Tufik S, et al. (2016). "Phenotypic contrasts of Duchenne Muscular Dystrophy in women: Two case reports". Sleep Science. 9 (3): 129–133. doi:10.1016/j.slsci.2016.07.004. PMC 5241604. PMID 28123647.
  6. ^ "Muscular Dystrophy: Hope Through Research". National Institute of Neurological Disorders and Stroke (NINDS). September 2013. Archived from the original on 31 March 2024. Retrieved 31 March 2024. Public Domain This article incorporates text from this source, which is in the public domain.
  7. ^ https://catalog.ninds.nih.gov/sites/default/files/publications/muscular-dystrophy-hope-through-research.pdf Archived 31 March 2024 at the Wayback Machine Public Domain This article incorporates text from this source, which is in the public domain.
  8. ^ Crisafulli S, Sultana J, Fontana A, Salvo F, Messina S, Trifirò G (June 2020). "Global epidemiology of Duchenne muscular dystrophy: an updated systematic review and meta-analysis". Orphanet Journal of Rare Diseases. 15 (1): 141. doi:10.1186/s13023-020-01430-8. PMC 7275323. PMID 32503598.
  9. ^ "Duchenne Muscular Dystrophy (DMD)". Muscular Dystrophy Association. 17 November 2017. Archived from the original on 15 November 2022. Retrieved 15 November 2022.
  10. ^ Cite error: The named reference :1 was invoked but never defined (see the help page).
  11. ^ Cite error: The named reference :2 was invoked but never defined (see the help page).
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