Duchenne muscular dystrophy
What is a neuromuscular disease?
Neuromuscular Disease2 is a term that defines a wide variety of diseases. They result in muscle wasting (atrophy), muscle pains and weakness. They are usually rare diseases, affecting both children and adults.
Individuals can inherit a neuromuscular disease from their parents. An individual can also ‘acquire’ a neuromuscular disease. Acquired diseases can occur, for example, through injury or exposure to toxins. The main reasons for suspecting a neuromuscular disease are:
- Muscle weakness
- Muscle aches and pains
- Muscle stiffness
- Muscle cramps
- Exercise intolerance or fatigue
- Sensory disturbances
There are several different kinds of neuromuscular disease. Each affects the body in different ways. They include:
- Myopathies
- Neuromuscular junction defects
- Neuropathies
- Motor neuron diseases
Myopathies
Inherited myopathies include the muscular dystrophies. They occur due to a genetic defect inherited from the individual’s parents. .
Genetic defects in the contractile apparatus of the muscle cause myopathies. Muscular dystrophies, in contrast, are diseases of muscle membrane or muscle proteins. They are generally characterized by muscle degeneration and regeneration.
Individuals generally experience progressive muscle weakness. Severity and rate of progression depend to a large extent on the form of myopathy. There is also a significant variability from one individual to another, even within the same condition. Myopathies are usually slower in their progression compared to muscular dystrophies. Muscle weakness can present with difficulties in:
- running
- climbing stairs
- walking long distances.
Affected individuals can report frequent trips or falls. They might also struggle to get up from the floor or from a chair.
Other symptoms of myopathies include:
- Muscle aches and pains, cramps and spasms
- Fatigues
- Difficulties with breathing (due to weakening of the respiratory muscles)
- Heart symptoms (palpitations, breathlessness etc) due to cardiac weakness
- Stiffness
Each myopathy has its own name, cause, diagnostic tests, prognosis and treatment. Some individuals have a normal life span and little or no disability. Other myopathies are progressive and very disabling, life-threatening or fatal.
Supportive treatments are available for most patients with an inherited myopathy. They include:
- Genetic counselling
- Physical therapy
- Occupational therapy
- Management of contractures
- Cardiac medication
- Respiratory support
- Nutrition