What are Neuromuscular Diseases (ND)?
Neuromuscular diseases (ND) are diseases that affect the neuromuscular system. It is estimated that there are more than 150 neurological diseases, most of which are genetic in origin and whose main characteristic is the loss of muscle strength.
They can cause problems in the nerves that control the muscles, in the muscles and interfere in the communication between nerves and muscles. They are chronic diseases that generate disability, can cause weakness and atrophy in their muscles.
Some examples of neuromuscular diseases include:
- Spinal amyotrophies.
- Steinert’s myotonic dystrophy.
- Muscular dystrophies (Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, Fukuyama Muscular Dystrophy or Walker-Warburg Syndrome and MEB (Muscle-Eye-Brain) syndrome).
- Neuromuscular junction diseases (Myasthenia Gravis, Eaton-Lambert Syndrome).
- Inflammatory muscle diseases (Polymyositis and Dermatomyositis, inclusion body myositis, carnitine deficiency).
- Congenital myopathies.
- Distal myopathies.
- Metabolic myopathies.
- Myositis ossificans progressiva.
- Myotonias congenita.
- Hereditary sensory-motor neuropathies (Charcot-Marie-Tooth diseases).
- Familial periodic paralysis (Gamstorp’s episodic adynamia and Westphal’s disease, Eulenburg’s paramyotonia).
Causes
These are classified as rare diseases and most of them develop progressively. They may have different genetic causes, from congenital myopathies, Duchenne muscular dystrophy to spinal muscular atrophy, among others.
They can also appear as a consequence of a malfunction of the immune system and, in other cases, their origin is unknown.
Symptoms
Although most neuromuscular diseases appear during childhood, their diagnosis can be made at any age. Symptoms usually appear as a consequence of infection or inflammation.
The common symptom is hypotonia or decreased muscle tone, which manifests with difficulty moving, walking and even holding objects. Other common symptoms are spasms, twitching and myotonia.
Diagnosis
As it is a rare disease, diagnosis is difficult. For this purpose, examination of the patient and the performance of different tests (analysis, MRI, etc.) are recommended.
Electroneurograms and electromyograms (analysis of nerve and muscle activity), muscle biopsies or genetic tests can also be used. It may take several years to obtain a definitive diagnosis of MND.
Treatment
Many neuromuscular diseases cannot be cured. But treatments can improve symptoms and increase mobility.
Regarding treatment, if the origin of the neuromuscular disease is infectious, endocrinometabolic or toxic, it is possible to find a solution, but in other cases it will only be possible to palliate the symptoms to avoid pain, deformities or contractures. To this end, people with NMD can use assistive devices, take medication (corticosteroids, immunosuppressants), perform physiotherapy exercises or undergo specific nutritional care to strengthen the musculature.