Today, November 15, is World Day for Neuromuscular Diseases, chronic diseases that cause great disability, loss of personal autonomy and psychosocial burdens. These pathologies, known as “rare diseases”, affect more than 60,000 people in Spain, according to data from the Spanish Federation of Neuromuscular Diseases (ASEM).
Neuromuscular diseases are a group of more than 150 neurological diseases, whose main characteristic is the loss of muscle strength. Most of these pathologies have a genetic origin and can appear at any stage of life, but more than 50% appear in childhood.
Due to their progressive nature, they are chronic, degenerative and untreatable and uncurable diseases, causing progressive muscle weakness, lack of mobility and some even death. Scientific research is the only hope that one day these diseases will be curable.
Dystonia: one of the most common neuromuscular diseases
Dystonia is one of the neuromuscular diseases that are constantly under research, in search of new therapies that allow the patient to develop a normal life.
It manifests with involuntary and sudden contractions of certain parts of the body, with torsions and deformations of the same. It worsens with anxiety and stress and can occur in various parts of the body at the same time, affecting the patient’s quality of life to the point of being disabling. Although it had come to be considered a rare disease, the increase in diagnosed cases has grown to the point that it now affects more than 20,000 Spaniards. It is estimated that 4 out of every 10,000 people have dystonia in some of its degrees and variants.
This disease, like other neuromuscular pathologies, may be associated with other neurological diseases, such as cerebral palsy, or may appear spontaneously in childhood or adulthood. Each patient will suffer the symptoms of muscle contractions in a different way, which makes it more difficult to find effective therapies for all cases. In general, patients with dystonia rely primarily on physical therapy and rehabilitation to improve their symptoms, as well as, depending on the case, relaxation therapies, drug treatment and even botulinum toxin injections.
Other neuromuscular diseases are Muscular Dystrophies (Duchenne Muscular Dystrophy or DM Steinert), Amyotrophic Lateral Sclerosis (ALS), Spinal Muscular Atrophy or Myotonia.
The importance of rehabilitation
All neuromuscular diseases do not yet have effective treatments or cures, but rehabilitation is capable of improving the quality of life of these patients, and even prolonging it.
Specialized, continuous and personalized rehabilitation helps to prevent the complications of the disease, since it favors greater elasticity in joints and muscles, as well as helping to control joint deformities. In early stages, rehabilitation, through respiratory physiotherapy, performs a strict control of the respiratory disorder.