Spinal muscular atrophy
What is a neuromuscular disease?
Neuromuscular disease 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.
Based on the location of the disease source, neuromuscular diseases can affect:
- The muscle cells structure or functionality (this group includes muscular dystrophies and myopathies)
- The junction between the neuron and the muscle, interfering with the transmission of signals between the neuron and the muscle (this group includes myasthenic syndromes).
- The nervous system, affecting the transmission of signals from the brain and brain stem to the muscle itself (e.g. spinal muscular atrophy and neuropathies)
Neuromuscular diseases are either genetically inherited (hereditary) or acquired. However, in this case, we are focussing on rare diseases, which mostly fall in the hereditary group.
As a group, they all result (at different degrees of severity) in muscle weakness and interference with daily life activities.
Other symptoms may include:
- Muscle aches and pains, cramps and spasms
- Muscle stiffness
- Reduced movements of the joints
- Fatigue or reduced tolerance for physical activity
- Difficulties with breathing
- Heart symptoms
- Difficulties with swallowing