Clinical Review Lesson of the week

Late diagnosis of Duchenne's muscular dystrophy presenting as global developmental delay

BMJ 2001; 323 doi: https://doi.org/10.1136/bmj.323.7303.37 (Published 07 July 2001) Cite this as: BMJ 2001;323:37
  1. Charles Essex (room101@ntlworld.com), consultant neurodevelopmental paediatriciana,
  2. Helen Roper, consultant paediatricianb
  1. a Child Development Unit, Gulson Hospital, Coventry CV1 2HR
  2. b Birmingham Heartlands Hospital, Birmingham B9 5SS
  1. Correspondence to: C Essex
  • Accepted 13 December 2000

Many boys with Duchenne's muscular dystrophy present with global developmental delay before specific motor disabilities are noticed

Duchenne's muscular dystrophy is an X linked recessive disorder that occurs in around 1 in 3500 baby boys.1 There may be no family history of the disorder, as the large gene responsible for it is prone to mutation, but even so subsequent sons are at risk. Most health professionals who work with children think that a boy with Duchenne's muscular dystrophy will present only with difficulties in walking. They have a mental picture of a child who is late to walk and who performs the Gowers's manoeuvre when getting up from the floor—that is, he gets up from the floor by first getting on to his hands and knees and then, from a kneeling position, pushing with his hands against his knees and thighs until upright.

View this table:

Boys with late diagnosis of Duchenne's muscular dystrophy

Although this is the classic picture of Duchenne's muscular dystrophy, relying on delay in development of gross motor skills as the only indicator will delay diagnosis in a high proportion of cases—by which time the parents might have had other sons with the disorder. In our experience, late diagnosis of Duchenne's muscular dystrophy is especially likely in boys with considerable associated learning difficulties and who present with global developmental delay. We report three such cases (see table for details of …

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