Neurologist
Commonly the head of multi-disciplinary Duchenne healthcare teams.
Commonly the head of multi-disciplinary Duchenne healthcare teams.
– If you or your primary physician suspect Duchenne
– When you need a specialist to test for Duchenne
– To lead your multiple provider care
– Initiate genetic testing
The endocrine system is affected by chronic glucocorticosteroid use.
– When considering initiating or stopping use of steroids
– To regularly assess weight and height
– If weight gain has been difficult to control
– If onset of puberty is delayed
– To get input on bone health status and options
The heart is a muscle too and can be affected at different rates for those with Duchenne. A cardiologist is essential to a good Duchenne healthcare team.
– To get a baseline cardiac exam at 6 years old
– To follow up on cardiac measures as recommended by the care guidelines or as needed
– When experiencing chest pain or palpitations
– If there is more fatigue than normal and having trouble doing normal daily routine
– When not sleeping well
– If there is persistent weight loss or vomiting
Some with Duchenne experience language delay and difficulty with focus/attention. Those with Duchenne and their families often require mental health support.
– To assess any delay in language development
– When school-aged and having learning difficulty
– If interaction with others, including peers is difficult
– If there are unusual fears, anxiety or depression
– To help the whole family with the effect of this diagnosis
Joint contractures and poor bone mineral density are common in Duchenne. An orthopedic doctor specializes in bone and joint health.
– To get baseline spine x-rays while still ambulatory
– If there is chronic use of steroids which affects bone mineral density (osteoporosis screening)
– To assess if vitamin or supplement regimen is benefiting bone health
– If there is a recent fall and pain or a suspected fracture
– When joint contractures have progressed despite physical therapy interventions
– To consult regarding orthopedic surgical options for ankles and spine
Muscles associated with chewing and swallowing and nutritional status are affected by Duchenne at varying degrees depending on progression.
– At baseline for assessment and recommendations on nutrition
– Oral intake has decreased and too few calories are being ingested
– Weight is hard to maintain (either too high or too low)
– Swallowing is difficult and/or aspiration in to the lungs has occurred
– Constipation is difficult to manage
– To treat gastroesophageal reflux disorder (GERD)
The muscles required for breathing are affected in Duchenne as well. A pulmonologist is able to assess and treat respiratory issues as they change throughout the lifespan. Many of the symptoms might overlap with a recommended cardiology appointment.
– To get baseline measures by 6 years of age and to formulate a proactive approach to treatment
– If there is shortness of breath
– If there is difficulty clearing secretions and phlegm and coughing is unproductive
– If you suspect poor respirations at night and need to do a sleep study
– If sleep is interrupted multiple times during the night
– There is more fatigue and more sleepy than normal
– There are frequent headaches during the day
– When it is difficult to pay attention and focus during the day