What is EDS? (My disability)
Reference
from: http://ghr.nlm.nih.gov/condition=ehlersdanlossyndrome
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"Reviewed
May 2006
What is Ehlers-Danlos syndrome?
Ehlers-Danlos
syndrome is a group of disorders that affect connective tissues,
which
are tissues that support the skin, bones, blood vessels, and other
organs.
Defects
in connective tissues cause the signs and symptoms of
Ehlers-Danlos syndrome,
which
vary from mildly loose joints to life-threatening complications.
In
the past, there were more than 10 recognized types of
Ehlers-Danlos syndrome.
In
1997, researchers proposed a simpler classification that reduced
the number of major types to six and
gave
them descriptive names: the arthrochalasia type, the classic type,
the dermatosparaxis type,
the
hypermobility type, the kyphoscoliosis type, and the vascular
type.
Other
forms of the condition may exist, but they have been reported only
in single families or are not well characterized.
Although
all types of Ehlers-Danlos syndrome affect the joints and many
also affect the skin, features vary by type.
An
unusually large range of joint movement (hypermobility) occurs
with most forms of Ehlers-Danlos syndrome,
particularly
the hypermobility type. Infants with hypermobile joints often
appear to have weak muscle tone, which can
delay
the development of motor skills such as sitting, standing, and
walking. The loose joints are unstable and prone
to
dislocation, chronic pain, and early-onset arthritis. Dislocations
involving both hips are a characteristic finding in
infants
with the arthrochalasia type of Ehlers-Danlos syndrome.
Many
people with Ehlers-Danlos syndrome have soft, velvety skin that is
highly elastic (stretchy) and fragile.
Affected
individuals tend to bruise easily, and some types of the condition
also cause abnormal scarring.
People
with the classic form of Ehlers-Danlos syndrome experience wounds
that split open with
little
bleeding and leave scars that widen over time to create
characteristic shallow "cigarette paper" scars.
The
dermatosparaxis type of the disorder is characterized by skin that
sags and wrinkles.
Extra
(redundant) folds of skin may be present as affected children get
older.
Some
forms of Ehlers-Danlos syndrome, notably the vascular and
kyphoscoliosis types, can involve
serious
and potentially life-threatening complications. Blood vessels can
tear (rupture) unpredictably,
causing
internal bleeding, stroke, and shock. The vascular type of
Ehlers-Danlos syndrome is also associated
with
an increased risk of organ rupture, including tearing of the
intestine and rupture of the uterus (womb)
during
pregnancy. People with the kyphoscoliosis form of Ehlers-Danlos
syndrome experience severe,
progressive
curvature of the spine that can interfere with breathing.
How common is Ehlers-Danlos syndrome?
Although
it is difficult to estimate the overall frequency of Ehlers-Danlos
syndrome, t
he
combined prevalence of all types of this condition may be about 1
in 5,000 individuals worldwide.
The
hypermobility and classic forms are most common; the hypermobility
type may affect as many as
1
in 10,000 to 15,000 people, while the classic type probably occurs
in 1 in 20,000 to 40,000 people.
Other
forms of Ehlers-Danlos syndrome are very rare. About 30 cases of
the arthrochalasia type
and
fewer than 60 cases of the kyphoscoliosis type have been reported
worldwide. About a dozen
infants
and children with the dermatosparaxis type have been described.
The
vascular type is also rare; estimates vary widely, but the
condition may affect about 1 in 250,000 people.
What genes are related to Ehlers-Danlos syndrome?
Some
of these genes (COL1A1, COL1A2, COL3A1, COL5A1, and COL5A2)
provide
instructions
for making proteins that are used to assemble different types of
collagen.
Collagens
are molecules that give structure and strength to connective
tissues throughout the body.
Other
genes (ADAMTS2, PLOD1, and TNXB) provide instructions for making
proteins that process or interact
with
collagen. Mutations that cause the different forms of
Ehlers-Danlos syndrome disrupt the structure, production,
or
processing of collagen, preventing these molecules from being
assembled properly. These defects weaken
connective
tissues in the skin, bones, and other parts of the body, resulting
in the characteristic features of this condition.
How do people inherit Ehlers-Danlos syndrome?
The
inheritance pattern of Ehlers-Danlos syndrome varies by type. The
arthrochalasia, classic,
hypermobility,
and vascular forms of the disorder usually have an autosomal
dominant pattern of
inheritance.
Autosomal dominant inheritance means that one copy of the altered
gene in each cell
is
sufficient to cause the disorder. In some cases, an affected
person inherits the mutation from one affected
parent.
Other cases result from new (sporadic) gene mutations.
These
cases occur in people with no history of the disorder in their
family.
The
dermatosparaxis and kyphoscoliosis types of Ehlers-Danlos
syndrome,
and
some cases of the classic and hypermobility forms, are inherited
in an autosomal recessive pattern.
In
autosomal recessive inheritance, two copies of the gene in each
cell are altered. Most often,
the
parents of an individual with an autosomal recessive disorder are
carriers of one copy of the
altered
gene but do not show signs and symptoms of the disorder.
Where can I find information about treatment for Ehlers-Danlos syndrome?
These
resources address the management of Ehlers-Danlos syndrome and may
include treatment providers.
You
might also find information on treatment of Ehlers-Danlos syndrome
in
Where can I find additional information about Ehlers-Danlos syndrome?
You
may find the following resources about Ehlers-Danlos syndrome
helpful.
These materials are written for the general public.
You
may also be interested in these resources, which are designed for
healthcare professionals and researchers.
What other names do people use for Ehlers-Danlos syndrome?
See How
are genetic conditions and genes named? in
the Handbook.
What if I still have specific questions about Ehlers-Danlos syndrome?Where can I find general information about genetic conditions?
The
Handbook provides basic information about genetics in clear
language.
These
links provide additional genetics resources that may be useful.
What glossary definitions help with understanding Ehlers-Danlos syndrome?
collagen ;complication ; connective tissue ; deficiency ; dislocation ; elastic ; gene ; hypermobility ;
inheritance ;inheritance pattern ; intestine ; joint ; kyphoscoliosis ; molecule ; motor ; motor skill ;
muscle tone ; mutation ;pattern of inheritance ; prevalence ; protein ; recessive ; rupture ; shock ; sign
You
may find definitions for these and many other terms in the
Genetics Home Reference Glossary.
See
also Understanding
Medical Terminology.
References (14
links)
The
resources on this site should not be used as a substitute for
professional medical care or advice.
Users
seeking information about a personal genetic disease, syndrome, or
condition should consult
with
a qualified healthcare professional. See How
can I find a genetics professional in my area? in
the Handbook.
|
Reviewed:
May 2006
Published:
March 14, 2010"
Reference
from: http://ghr.nlm.nih.gov/condition=ehlersdanlossyndrome
