In the early ambulatory (walking) stage, boys will be showing what are typically regarded as the “classical” signs of DMD – a Gowers’ manoeuvre (which means that they need to support themselves with hands on thighs as they get up from the floor), waddling type walking (gait) and walking on their toes. They can still climb stairs, but typically bring the second foot up to join the first rather than going foot over foot. These two early stages are the time when the diagnostic process is likely to be underway (see Diagnosis).
Specific tests will be recommended in order to identify the change in the DNA or genetic mutation that caused DMD. Input from specialists may be needed in order to interpret these tests and to discuss how the results may impact your son and other family members.
Boys who have DMD have a higher chance of having problems in these areas. Some are due to the effect DMD has on the brain, others to physical limitations. Some medications such as steroids also play a role. Family support is essential, and input from specialists may be needed to address specific issues of learning and behaviour (see Psychosocial Management).
An introduction to the physiotherapy team (see Rehabilitation Management) at this early stage will mean that exercise regimes can be introduced gradually to keep muscles supple and prevent or minimise tightness at the joints. The physiotherapy team can also advise on appropriate exercise for school in order to support participation.
It is a good time to find out about options such as steroids (see Neuromuscular Management) which will be planned for when the boy’s gaining of motor skills starts to level out or “plateau”. In planning for the use of steroids, it is important to check that all immunisations are complete and to find out if any risk factors for the side effects of steroids can be anticipated and minimised. Guidance on weight control for example might be required.
Typically, problems with the heart and breathing muscles are not likely to be present at this stage, but surveillance should be built into the regular follow-up clinic visits to establish the baseline (what is ‘normal’ for your son). Cardiac monitoring is recommended at diagnosis and then every two years up to age 10. After the age of 10, monitoring should be more frequent. It is also important that the boy has pneumococcal and influenza vaccinations (see Pulmonary Management).
Information based on consensus statement (published in January 2010)