Muscular Dystrophy Australia (MDA) supports people with any one of more than 60 different neuromuscular conditions, about half of which are classified as muscular dystrophy.
These conditions affect approximately one in every 625 people.
While worldwide research continues, there is no cure for any form of MD and some conditions are life-limiting or can lead to degenerative disability.
There are also no specific treatments for most neuromuscular conditions but considerable research efforts are working towards developing them and encouragingly, many clinical trials are now starting.
Treatments, such as gene therapy to specifically target the underlying cause are being developed for some conditions, as well as more generalised treatments which aim to reduce the severity of symptoms by, for example, boosting muscle regeneration.
The association originated in Australia in 1984 when Boris and Ineke Struk were told by a neurologist that their youngest son, Ryan, had Duchenne Muscular Dystrophy, one of the severest forms of muscular dystrophy.
The lack of support available at the time prompted Boris to build upon Muscular Dystrophy Australia as a place to turn to for those in the community who have MD, as well as their families.
Today, MDA is a registered NDIS provider and is the one-stop shop for information and support for people living with over 60 neuromuscular conditions.
People can receive a diagnosis of MD at any age. They are rare conditions, sometimes, but not always, genetic in cause.
The muscle conditions surrounding MD can be divided into nine broad categories: their main features are described below.
All of the conditions have one thing in common - they cause muscle weakness which has a profound effect on people's lives.
However, this is where the similarity ends. Some neuromuscular conditions are so severe that babies die within the first few years of life, whereas others only affect people in old age and don’t cause severe disability.
Most of the conditions have a genetic cause and are passed down through families (inherited) but sometimes the genetic change occurs spontaneously in an individual without a family history of muscle disease.
Other conditions are autoimmune or the cause is unknown or poorly understood.
The source of the muscle weakness within the body differs too.
For example, muscular dystrophy is primarily a disease of muscle, often caused by the lack of an important structural protein and as a result, the muscles are fragile and easily damaged.
In other types of muscular dystrophy such as facioscapulohumeral muscular dystrophy (FSHD) the genetic change results in the production of a substance that is toxic to muscle.
For some other neuromuscular conditions the muscle weakness originates in the nerves that control the muscles.
For example, amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA) affect the motor neurons in the spinal cord.
Others, such as Charcot-Marie-Tooth disease affect the peripheral nerves which carry signals from the spinal cord to the limbs.
A structure called the “neuromuscular junction” that connects the nerves to the muscles is affected in some conditions, for example myasthenia gravis.
Each neuromuscular condition causes a characteristic pattern of muscle weakness: it could be just the legs or the muscles around the eyes and throat.
The most severe conditions affect all the muscles of the body, including the heart and the muscles used for breathing. In most cases intelligence is not affected.
Some conditions such as myotonic dystrophy affect many parts of the body as well as the muscles. This results in very diverse care needs depending on the condition and the stage of progression.
Often the management of symptoms is complex, requiring input from a wide variety of health care professionals.
Overview of the diverse types of neuromuscular conditions:
Muscular dystrophies: Genetic in origin, it causes weakness in the muscles. There are more than 30 types of muscular dystrophy and each causes a characteristic pattern of muscle weakness and wasting. The most common types are Duchenne muscular dystrophy and FSHD.
Myotonic disorders: Also genetic in origin and causes muscle weakness. “Myotonia” (the inability to relax muscles following contraction) is a feature of these conditions in addition to muscle weakness. The most common type – myotonic dystrophy – affects many other tissues and organs including the heart, eyes, digestive and hormonal systems and the brain.
Spinal muscular atrophies: Motor neurons are the source of weakness and it is genetic. Motor neuron loss causes generalised muscle weakness. Divided into four types depending on severity. Life span rarely exceeds the age of two for the most severe form.
Inflammatory myopathies: The cause is unknown but inflammation in the muscles is a common feature. Inclusion body myositis is the most common muscle disease affecting the elderly.
Neuropathies: Genetic or autoimmune causes for this condition which in turn damage to the peripheral nerves causes muscle weakness and wasting, and some loss of sensation, in the extremities of the body: the feet, the lower legs, the hands and the forearms. Most common form is Charcot-Marie-Tooth disease.
Disorders of the neuro-muscular junction: Motor neurons or other parts of the nervous system are affected, but the cause is unknown but may be genetic. Amyotrophic lateral sclerosis causes wasting and weakness of all muscles, with cramps and muscle twitches common. Survival rarely exceeds five years after onset. Friedreich’s ataxia also falls within this category.
Metabolic diseases of muscle: These affect muscles and are genetic. The lack of an enzyme or mitochondrial abnormalities impairs energy production in muscle. Symptoms include muscle weakness and fatigue and muscle pain and swelling after exercise.
Other myopathies: Wide range of rare genetic conditions mostly affecting the structure of muscle, examples include nemaline myopathy, centronuclear myopathy and central core disease.
Under all the above are related muscular dystrophy and neuromuscular conditions too numerous to mention here.
To find out more about the association, its vision, and how it can help you head to Muscular Dystrophy Australia Muscular Dystrophy Association.
Or to help the association support people with MD and their loved ones, donate today here.