In Spain, some 70,000 people suffering from neuromuscular diseases or some form of Dystonia, according to data from the SEN.

Spain, November 2011- Last Tuesday, November 15, he celebrated the European day of Dystonia and the national day of neuromuscular diseases, a date dedicated to two groups of neurological diseases – covered within disease rare-that affect, respectively, 20,000 and 50,000 people in Spain, according to data from the Spanish Neurology Society (SEN).

Because it’s little-known disease, research and outreach efforts are greatly reduced. In addition, there are still shortcomings which hinder diagnosis and treatment, for that reason, the SEN has wanted to use the commemoration of that date to raise awareness of the problem of these diseases.

Neuromuscular diseases

neuromuscular diseases are a set of more than 150 neurological diseases chronic, progressive, usually hereditary (though they can also be acquired), whose main characteristic is an interruption of communication between the nervous system and skeletal muscles causing progressive muscle weakness or intermittent. His appearance can occur at any stage of life and its causes are very diverse. Even in many diseases, still don’t know its origin. The first symptoms often manifest in problems to perform everyday tasks such as walking, climbing stairs, lift objects, etc. While in very young children, the most common symptoms are slow and difficulty running, have frequent falls, walk with an excessive sway of the hips, …

but they are considered rare diseases, must be taken into account that, as a whole, is one of the most frequent diseases of neurological pathology groups. Furthermore, in recent years, has increased its prevalence since is has been able to improve the treatment of many of them and, therefore, fortunately, has been raising the survival rate ”, explains Dr. Antonio Guerrero Sola, Coordinator of the study group of diseases neuromuscular of the society Spanish of Neurology. notwithstanding, and despite scientific advances, chronic, progressive and generally incurable nature makes patients look shrunken, increasingly, their functional capacity and their personal autonomy. For that reason, it is very important to the early detection of these diseases. Current treatments are able to alleviate and improve the vast majority of the symptoms, allows to reduce and prevent complications, and therefore improve the independence and quality of life of patients ”.

Among adults, the most common neuromuscular disease is the Steinert disease, estimated suffers from one in every 20,000 people. In childhood, Duchenne Muscular Dystrophy is the most common, with an incidence of 1 in every 3,500 boys live births.

While there has been progress in the knowledge of the genetics of neuromuscular diseases, much still remained to be done when it comes to finding a cure for these diseases ”, says Dr. Antonio Guerrero Solá. however, hope that certain investigations, which are already underway, they can change this situation. Furthermore, recently, there has been some progress. For example, in relation to the Steinert myotonic dystrophy, a recent clinical trial with IGF1 human recombinant has shown improvements in muscle mass, although gain in strength and functional scales has not been shown. In the case of Duchenne Muscular Dystrophy, has consolidated the benefit of treatment with steroids and still underway several trials to try and repair of the code of reading of the gene. Also has been tested in phase I, a viral vector which serves as a carrier of genetic information ”.

Dystonia

The term dystonia is the generic name of a set of neurological diseases, causing contractions sustained muscle of one or more parts of the body, causing abnormal postures and movements. These diseases are usually classified in agreement the region or regions of the body are affected (focal segmental or generalized) or to the cause that produces: primary, in the case of genetic diseases; or secondary, when it occurs as a result of brain, toxic injuries, drugs or other neurological diseases, in general, degenerative. It is estimated that in Spain might exist up to 20,000 people affected by some type of Dystonia, and about half of these cases, they would be genetic in origin.

Dystonia generates abnormal postures one apart from the body and is not uncommon that coincide with other types of abnormal tremor movement. In cases of primary Dystonia, there is no cognitive deficit or involvement of other brain functions such as coordination or sensitive functions ”, explains the DRA. Rosario Luquin Piudo, Coordinator of the Group of study of disorders of the movement of the SEN.

In the earliest cases, symptoms usually appear around 5-10 years and it is initiated by difficulty walking or by abnormal postures of the foot during the March. In cases of appearance in adulthood, the home is focal (vertebrae, face, hand), and usually does not progress unless there is a neurological pathology associated as a stroke or brain tumor, trauma, degenerative diseases, etc. ”, says Dr. Rosario Luquin Puido.

There is currently no commonly effective treatment for all disorders of Dystonia, but different therapies that, individually, manage to stop or reduce muscle spasms and headaches that may be associated. Dystonia response to oral drug therapy is very low but many patients show a significant improvement after the implementation, in the affected muscle of botulinum toxin. This is the treatment of choice for focal dystonia and, in some cases resistant to botulinum toxin or in patients with generalized Dystonia DBS has proven to be a valid and effective therapy ”, points out Dr. Rosario Luquin Puido.