Among the many diseases with known genetic origin, a series of which some are
degeneratives and affect two important things to providing what many humans
cherish most: life and independence. These two things are the neurons and nerves
that control the muscles, and the muscles. The diseases that affect them are
known as Neuromuscular diseases.
Currently close to 40 Neuromuscular disorders are known, catalogued into two
groups (Neuropathies and Myopathies) designated by the type of tissue that is
affected. At the same time these groups are catalogued into further subgroups.
In the case of Myopathies there are Muscular Dystrophies, Inflammatory
Myopathies, Metabolic Myopathies, Myopathies caused by endocrine abnormalities,
and Others Myopathies. In the case of the Neuropathies there are Motor Neuron
diseases, Neuromuscular Junction disorders, and Peripheral Nerve disorders.
Among these, Muscular Dystrophies in their diverse forms constitute among them
the most common group of Neuromuscular diseases which are well-known and
widespread around the world. As such, Muscular Dystrophy is used traditionally
(though sometimes inappropriately) to refer to the more than 40 Neuromuscular
diseases.
The Muscular Dystrophies are currently classified in 9 types (Myotonic,
Duchenne, Becker, Limb-Girdle, Facioscapulohumeral, Congenital, Oculopharyngeal,
Distal and Emery-Dreifuss), and some of these are categorized into further
subtypes. Each of these types and subtypes has a different genetic origin and a
defect in some gene that causes the absence, flaw, or deficiency of one of the
proteins necessary for muscular function, bringing with it deterioration and
progressive destruction of the muscle tissue. The form in which the disease
develops, the moment when symptoms appear, and the severity of these also varies
according to each type and subtype.
Presently there is no cure or effective treatment to stop or revert the
development of Muscular Dystrophy, nor for the majority of known Neuromuscular
diseases. Nevertheless, there are a series of palliative treatments that can
relieve some of the symptoms, at least in some small degree, or slowdown its
inevitable advance.
As a whole, Neuromuscular diseases affect humans at every stage of life:
infancy, adolescence, adulthood and old age, of both sexes. Their effects range
from gradual loss of mobility and independence to severe disability and death in
its severest forms (the most common of these is Duchenne Muscular Dystrophy,
which leads to death before the age of thirty).
Its presence is worldwide, with no country or region with individuals unaffected
by some type of Muscular Dystrophy or Neuromuscular disease. The incidence of
Neuromuscular diseases in general is 1 in every 1,000 births, while in Muscular
Dystrophy in general is close to 1 in every 2,000 births, and in individual
varieties the greatest incidence is found in Duchenne Muscular Dystrophy (the
most common and severe), which is 1 in every 3,500 males born.
In spite of Neuromuscular diseases and especially Muscular Dystrophies as a
whole having a greater incidence than other more recognizable genetic diseases,
people with Neuromuscular diseases and Muscular Dystrophy have historically been
culturally and socially marginalized in the majority of countries, principally
in the developing world.
The information available about this group of diseases is limited, insufficient
and poorly disseminated. For this reason there is a lack of knowledge about the
differences between the diverse Neuromuscular diseases and Muscular Dystrophies,
as much in its development, evolution, life expectancies, how it is inherited,
as in its management and care.
Many of those affected see their quality of life greatly diminished and suffer
complications that can bring about death due to ignorance and a lack of
information, with the general public and medical community equally to blame.
On the other hand, a large number of those affected who live in developing
countries do not have access to advanced diagnostic exams which would allow them
to know or rule out the specific type of disease they are suffering from, and
with this information know what development will have the disease in the future and what is the risk of
passing it on their children.
For all of these motives, the signers below decide to select September 17th to
commemorate "Muscular Dystrophy and Neuromuscular Diseases Day on the Internet",
and in this way use the important medium of Internet to raise awareness in the
majority of mass media (TV, radio, press), governments, health and public
institutions, and individuals. The goal is so that all may collaborate to give
greater attention to and understanding of these diseases which damage nerve and
muscle tissue, the foundation of what people cherish most: life and
independence. Despite the lack of a cure, those affected can in this way set in
motion a series of actions at the national and international level to make
possible the best quality of life for all those affected, and above all inspire
hope.
It is hoped that this day will be commemorated in the future as the
"International Muscular Dystrophy and Neuromuscular Disease Day", will help to
generate more funding worldwide and research into possible cures.
September 17th was chosen for "Muscular Dystrophy and Neuromuscular Diseases Day
on the Internet" because this day commemorates the birth of Dr. Guillaume
Duchenne (1806-1875), one of the first doctors to describe Muscular Dystrophy
and catalogue it for the first time, as well as to create the first medical
exams to diagnose them (consequently, it is his last name which designates the
oldest and most recognizable type of muscular dystrophy).
With all due respect we ask that every Webmaster and Internet user diffuse this
manifesto, as well as the links to all the web sites regarding neuromuscular
diseases which support this manifesto.
Traslation to English by Ben Ried (benried@hotmail.com) [Corrected by Maria Fremlin]
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