Muscular Dystrophy (MD) is an ‘umbrella’ term that refers to a group of rare, complex, genetic conditions within a wider group of more than 75 conditions collectively referred to as neuromuscular conditions (NMCs). NMCs cause progressive deterioration of muscle strength and function and commonly result in profound disability.
With rapidly evolving diagnostic techniques and the unravelling of the human genome, science is yet to uncover the actual incidence rates of the more than 75 known neuromuscular conditions. We do know that the prevalence of neuromuscular diseases is at least as high as Parkinson’s disease worldwide (100 – 300 people for every 100,000) and twice that of Multiple Sclerosis in Europe (800 people for every 100,000). Based on Australia’s current population of 25.88 million people we estimate that 41,408 Australians currently live with one or more of these conditions.
Some neuromuscular conditions can be clinically diagnosed at birth and in others symptoms do not appear until toddlerhood; childhood; adolescence; early or late adulthood. Many conditions are equally distributed amongst genders, while some, such as Duchenne muscular dystrophy appear mostly in males and others, such as Myasthenia Gravis, occurs twice as often in women.
All neuromuscular conditions result in a complex, progressive profile of disability over the lifetime of the person living with a condition. Each condition has a set of features unique to that diagnosis but they almost always include a severe impact upon the functional capability of the person, caused by:
- Progressive muscle weakness in all muscles of the body, mostly leading to profound physical disability.
- Significant and fluctuating fatigue and pain which progress with the condition.
- In many cases, reduced life expectancy.