Duchenne muscular dystrophy
Duchenne muscular dystrophy (DMD) is a dystrophinopathy and the most common muscular dystrophy.
DMD has an incidence of 1 in 3500 to 5000 males 1,2. The condition is extremely rare in females due to its inheritance pattern, as discussed below 1.
The characteristic feature is progressive muscle weakness with fatty replacement of muscle that begins in early childhood 1,2. Typically, proximal lower limb and truncal muscles are affected first, but eventually there is progression to upper limb muscles and extremities 1,2.
In addition to gross motor weakness and delay, patients also exhibit muscle pseudohypertrophy especially of the calves, a waddling gait, scoliosis, joint contractures, and the classic yet non-specific Gower’s sign of proximal muscle weakness 1. Generally, children become wheelchair bound by approximately 12 years of age 1.
Furthermore, patients have many other non-musculoskeletal features:
- dilated cardiomyopathy characterised by fibrosis of the posterobasal left ventricular wall and leading to congestive heart failure 1,3
- cardiac conduction anomalies leading to a variety of potential arrhythmias 1,3
- restrictive lung disease 1
- intellectual disability 1
DMD is inherited in an X-linked recessive pattern, and thus nearly exclusively occurs in males 1. It is due to a mutation in the DMD gene that normally encodes for dystrophin, a protein involved in strengthening skeletal and cardiac muscle fibres by acting as a mechanical link between the cytoskeleton and the extracellular glycoprotein matrix of cells in these tissues 1.
Unlike in Becker muscular dystrophy where a mutation in the DMD gene results in a partially functioning dystrophin protein, in Duchenne muscular dystrophy dystrophin is non-functioning, which results in a more severe phenotype 1.
Musculoskeletal MR features, especially those from the lower limb, are most commonly described, however other imaging modalities may be useful as well.
Plain radiograph may show non-specific features of DMD, such as translucent soft tissues reflective of fatty muscle replacement, scoliosis, hypo-inflated lungs, and gracile bones 4,5.
CT is not commonly performed due to risks of ionising radiation in this young patient demographic 2,6. However, CT confirms plain radiograph findings and furthermore, typically shows low attenuating fatty infiltration and resultant pseudohypertrophy of affected muscles (see below) 6.
MRI is the modality of choice in DMD, with T1-weighted sequences traditionally being the most useful 7. Due to its superior soft tissue contrast, T1-weighted MRI shows characteristic patterns of muscular fatty infiltration 7. Affected muscles demonstrate high T1-weighted signal that is initially streaky, but becomes more confluent in nature as the condition progresses 7.
There tends to be a typical pattern of muscle involvement:
- lower limb and pelvis musculature:
- early involvement of the gastrocnemii muscles 2,7-9
- eventual involvement of the gluteus maximus, gluteus medius and adductor magnus muscles, followed by involvement of the psoas, iliacus, quadriceps, rectus femoris, biceps femoris, peroneus longus, and soleus muscles 2,7-9
- there is characteristic relative sparing of the sartorius, gracilis, semitendinosus, semimembranosus, and tibialis posterior muscles, even in advanced stages of the condition 2,7-9
- upper limb musculature:
Furthermore, recent research suggests T2 mapping techniques may also be useful applications of MR, especially in relation to clinicoradiological severity correlations, but this is an ongoing field of research 2,9.
Treatment and prognosis
Corticosteroids, such as prednisolone and deflazacort, are the only pharmacological agent that has proven to be effective in improving muscle strength and respiratory function 1. Otherwise, the management of DMD is multidisciplinary, and involves rehabilitation and surveillance of respiratory, cardiac, and orthopaedic complications 1.
The prognosis remains relatively poor, with most patients not surviving past the third decade of life 1.
History and etymology
This disorder is named after Guillaume-Benjamin-Amand Duchenne de Boulogne (1806-1875), a French neurologist, who first described the condition in his 1861 book 10,11.
- 1. Yiu EM, Kornberg AJ. Duchenne muscular dystrophy. Journal of paediatrics and child health. 51 (8): 759-64. doi:10.1111/jpc.12868 - Pubmed
- 2. Kim HK, Laor T, Horn PS, Racadio JM, Wong B, Dardzinski BJ. T2 mapping in Duchenne muscular dystrophy: distribution of disease activity and correlation with clinical assessments. Radiology. 255 (3): 899-908. doi:10.1148/radiol.10091547 - Pubmed
- 3. Spurney CF. Cardiomyopathy of Duchenne muscular dystrophy: current understanding and future directions. Muscle & nerve. 44 (1): 8-19. doi:10.1002/mus.22097 - Pubmed
- 4. Archer JE, Archer GAC, Archer RHP, Archer CAA, Archer TAJ. Duchenne muscular dystrophy: the management of scoliosis. Journal of Spine Surgery. 2 (3): 185-194.
- 5. Larson CM, Henderson RC. Bone mineral density and fractures in boys with Duchenne muscular dystrophy. Journal of pediatric orthopedics. 20 (1): 71-4. Pubmed
- 6. M Jiddane, J L Gastaut, J F Pellissier, J Pouget, G Serratrice, G Salamon. CT of primary muscle diseases. American Journal of Neuroradiology. 4 (3): 773. Pubmed
- 7. Díaz-Manera J, Llauger J, Gallardo E, Illa I. Muscle MRI in muscular dystrophies. Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology. 34 (2-3): 95-108. Pubmed
- 8. Politano L, Nigro G. Magnetic resonance imaging in muscular dystrophies. Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology. 34 (2-3): 93-4. Pubmed
- 9. Liu GC, Jong YJ, Chiang CH, Jaw TS. Duchenne muscular dystrophy: MR grading system with functional correlation. Radiology. 186 (2): 475-80. doi:10.1148/radiology.186.2.8421754 - Pubmed
- 10. Kenneth L. Tyler, Lawrence C. McHenry, Jr.. Fragments of neurologic history. Neurology. 33 (1): 88. doi:10.1212/WNL.33.1.88 - Pubmed
- 11. Duchenne G. Paraplegie hypertrophique de l’enfance de cause cerebrale. 1861.