making muscle wasting history

EARLY AMBULATORY

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 (Section 3).

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.

LEARNING AND BEHAVIOUR: 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 (Section 10).

PHYSIOTHERAPY: An introduction to the physiotherapy team (Section 5) 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.

STEROIDS: It is a good time to find out about options such as steroids (Section 4) 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.

HEART AND BREATHING MUSCLES: 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 (Section 7).
Late ambulatory

In the LATE AMBULATORY stage, walking becomes increasingly difficult and there are more problems with climbing stairs and
getting up from the floor.

LEARNING AND BEHAVIOUR: Continued support from professionals will be necessary to help with any learning and behaviour issues, and specific help may be needed to address coping strategies for dealing with the loss of ability to walk (Section 10).

PHYSIOTHERAPY: Rehabilitation input will continue to focus on range of movement and independence (Section 5). If joint tightness becomes too much of a problem for physiotherapy interventions, assessment and input from orthopaedic specialists may be necessary. It is important to make sure that there are appropriate wheelchairs with supportive seating to promote continued independence and comfort.

STEROIDS: Ongoing management of steroid treatment is important at this stage, with attention to the specific regime and dose used (Section 4) as well as attention to side effects.
Twice yearly assessments to monitor strength and function are important. Continued attention to weight control needs to take into account any tendency to be under or over weight with appropriate intervention if there is a problem (Section 9).

HEART AND BREATHING MUSCLES: From a respiratory and cardiac point of view (Sections 7 and 8 respectively), the low risk of obvious problems remains but ongoing assessment of
the heart and breathing muscles is necessary. Echocardiogram and other types of tests should be done annually from the age of 10. The doctor will recommend interventions if there are any changes observed on the echocardiogram.