Brittle Bone disease
A little hint: The character Elijah Price (played by the actor
Samuel L Jackson) in Unbreakable movie has this disease…
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Other hint: Sometimes when you fall or have an accident you hope that you didn’t have bruises or break a bone. But when a person with this disease falls, he/she hopes that just a bone was broken. It is a weird disease but in a very sad way…
Have you found the answer?
Osteogenesis imperfecta (OI), also called Brittle Bone disease is a genetic bone disorder characterized by fragile bones that break easily without a specific cause.
The most common form of OI (Type I) is the least severe. Here some symptoms:
.
Other hint: Sometimes when you fall or have an accident you hope that you didn’t have bruises or break a bone. But when a person with this disease falls, he/she hopes that just a bone was broken. It is a weird disease but in a very sad way…
Have you found the answer?
Osteogenesis imperfecta (OI), also called Brittle Bone disease is a genetic bone disorder characterized by fragile bones that break easily without a specific cause.
In the United States, the incidence of OI
is estimated to be 1 per 20.000 live births.
.
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OI is caused by a genetic defect affecting the
non-mineral part of bone. About 85% of defects are in collagen, the
triple helix connective tissue rope that holds the mineral parts of bones
together. Other more rare forms of OI affect other proteins in bone. There are
eight forms of this disease.
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The condition can also affect a child’s
stature, hearing, skin, blood vessels, muscle mass (hypotonia or poor muscle
tone) and teeth (dentinogenesis imperfecta).
The most common form of OI (Type I) is the least severe. Here some symptoms:
· Slight
spinal curvature
· Loose
joints
· Poor muscle tone
· Slight protrusion of the eyes
· Slight protrusion of the eyes
· Discoloration
of the sclera (whites of the eyes), usually giving them a blue-gray color, due to the underlying choroidal veins which
show through. The sclera being thinner than normal because of
the defective Type I collagen not forming correctly.
Nowadays, there is
no cure for OI. Treatment is aimed at increasing overall bone strength to
prevent fracture and maintain mobility.
Although there is no
known cure for OI, regular weight-bearing exercise, a diet rich in calcium and
vitamin D, a healthy lifestyle, and, in some cases, vitamin supplements will
help off-set early development of osteoporosis, prevent future fractures, and
delay other health concerns related to OI.