Duchenne muscular dystrophy

Duchenne muscular dystrophy (DMD) is one of the most common and devastating types of muscular degeneration and results in progressive muscle weakness, starting at young age.^1,2

A genetic disorder, DMD primarily affects boys and is characterized by loss of the protein dystrophin in muscle cells as a result of genetic mutations.^3,4 The associated cell damage and uncontrolled influx of calcium leads to mitochondrial dysfunction and reduced energy production in muscle cells.⁵ This contributes to progressive muscle weakness and loss of muscle tissue over time including a decline in pulmonary function leading to trouble breathing.^4,5

The average age at which boys will start to show symptoms of DMD is 3 to 5 years, and they are commonly unable to walk by their teenage years.^1,4,6 As the disease progresses, the muscles affected include those needed for breathing (respiration), causing a problem called ‘respiratory insufficiency’ that leads to worsening breathing. This means that patients with DMD suffer from a decline in respiratory function, may need support to breathe and may have more frequent lung infections.^7–9 Other typical symptoms include a weak cough, chest infections, daytime sleepiness, headaches, suffering from nightmares, or other respiratory and pulmonary infections.

Living with Duchenne Muscular Dystrophy (DMD)

Learn about respiratory function in DMD

Parent Project Muscular Dystrophy (PPMD) – with support from Santhera Pharmaceuticals and input from a panel of parents, patients, and pulmonologists – has created a series of five short, informative animated videos to clarify, simplify, and teach important topics concerning pulmonary care.

Educational videos on Duchenne pulmonary awareness (from left to right):

Video 1: Pulmonary management in DMD is important. This video explains what to expect at your pulmonary visit.
Video 2: Coughing is how you clear your lungs and airway. Learn why coughing is important for patients with DMD.
Video 3: Learn about different ways to assist cough, keeping airways clean and lungs healthy in patients with DMD.
Video 4: Watch this video on why monitoring breathing during sleep is important.
Video 5: Methods of assisting nighttime breathing can be confusing but are easily explained in this video.

References

1.	Mendell JR & Lloyd-Puryear M. Muscle Nerve 2013; 48:21–26.
2.	Passamano L, et al. Acta Myol 2012; 31:121–125.
3.	Muscular Dystrophy Association, Duchenne muscular dystrophy (DMD). Accessed February 2016.
4.	Bushby K, et al. Lancet Neurol 2010; 9:77–93.
5.	Timpani CA, et al. Med Hypotheses 2015; 85:1021–1033.
6.	Henricson EK, et al. Muscle Nerve 2013; 48:55–67.
7.	Melacini P, et al. Neuromuscul Disord 1996; 6:367–376.
8.	Simonds AK. Semin Respir Crit Care Med 2002; 23:231–238.
9.	Bourke SC. Clin Med 2014; 14:72–75.