- Affects 1 in 3500 male boys
- The most common muscular dystrophy
- Mutation on the DMD gene, at Xp21.
- There is a lack of the molecule dystrophin. This molecules is part of a complex structure that connects the cytoskeleton of each muscle fibre to the basal lamina. In the absence of dystrophin, there is excessive calcium entry into the cell. This results in excess oxidative stress within the cell, which damages the sarcolemma and ultimately results in cell death.
- Trouble getting up for chairs
- Trouble getting upstairs
- Waddling gait
- General difficulty with motor skills
- Skeletal deformity
- Most children unable to walk by age of 10 – and require the use of a wheelchair
- Death usually occurs in the teenage years or early 20’s
- Affected males do not normally survive to reproduce – so the disease is passed on almost entirely by female carriers.
- Wasting of the proximal muscle (most obviously the thigh)
- There may also be calf swelling due to pseudohypertrophy of the calf muscles. A similar process may also occur in the tongue. This is due to fat replacement of muscle.
- Developmental delay in 1/3 of cases
- Positive Gower’s test
- ↑Levels of creatinine kinase (CK) in the blood
- EMG – shows destruction of muscle tissue, rather than nerve conduction properly
- Genetic testing – will shows Xp21 defects
- Muscle biopsy – rarely performed since genetic testing. Shows an absence of dystrophin.
- Corticosteroids – are aggressively used – sometimes before the age of 10. This can be extremely good treatment – it can convert from a Duchenne’s picture to a Becker’s picture.
- Physiotherapy – can reduce the rate of contracture, and prolong the useful life of the muscles.
- Mechanical ventilation – is often required in the late stages
- In wheelchair usually about age of 10
- Usually die by age of 20
- Murtagh’s General Practice. 6th Ed. (2015) John Murtagh, Jill Rosenblatt
- Oxford Handbook of General Practice. 3rd Ed. (2010) Simon, C., Everitt, H., van Drop, F.
- Beers, MH., Porter RS., Jones, TV., Kaplan JL., Berkwits, M. The Merck Manual of Diagnosis and Therapy