A group of usually autosomal dominant inherited disorders characterized by defective synthesis of collagen type I resulting in defective collagen formation. It is characterized by brittle and easily fractured bones
Symptoms of Brittle Bone Disease
The following features are indicative of Brittle Bone Disease:
weak muscles
brittle teeth
a curved spine
hearing loss
fragile bones
short stature
discolored teeth
bluish discoloration of the whites of the eyes
It is possible that Brittle Bone Disease shows no physical symptoms and still is present in a patient.
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Common Causes of Brittle Bone Disease
The following are the most common causes of Brittle Bone Disease:
genetic defect
inherited factor
family history
Risk Factors for Brittle Bone Disease
The following factors may increase the likelihood of Brittle Bone Disease:
family history
abnormal absence of menstrual periods
thinness
being postmenopausal and particularly having had early menopause
low calcium intake
lack of physical activity
smoking
excessive alcohol intake
Prevention of Brittle Bone Disease
No, it is not possible to prevent Brittle Bone Disease.
genetic mutation in one of two genes COL1A1 or COL1A2 (collagen type I alpha 1 or 2 chain)
Occurrence of Brittle Bone Disease
Number of Cases
The following are the number of Brittle Bone Disease cases seen each year worldwide:
Rare between 10K - 50K cases
Common Age Group
Brittle Bone Disease can occur at any age.
Common Gender
Brittle Bone Disease can occur in any gender.
Lab Tests and Procedures for Diagnosis of Brittle Bone Disease
The following lab tests and procedures are used to detect Brittle Bone Disease:
Physical exam: To measure the length of limbs and examine the eyes and teeth
Personal and family medical history: To detect the presence of the genetic mutation
X-ray: To diagnose the osteogenesis imperfecta
Bone density test: To determine the abnormalities of collagen
Bone biopsy: To determine whether abnormalities of collagen are present
Doctor for Diagnosis of Brittle Bone Disease
Patients should visit the following specialists if they have symptoms of Brittle Bone Disease:
Medical geneticists
Paediatrician
Complications of Brittle Bone Disease if untreated
Yes, Brittle Bone Disease causes complications if it is not treated. Below is the list of complications and problems that may arise if Brittle Bone Disease is left untreated:
hearing loss
heart failure
respiratory problems
brainstem problems
permanent deformity
Procedures for Treatment of Brittle Bone Disease
The following procedures are used to treat Brittle Bone Disease:
Surgery: To correct the bone deformities
Bracing: Provides support for weak muscles and keep joints properly aligned
Medicines for Brittle Bone Disease
Below is the list of medicines used for Brittle Bone Disease:
The following self-care actions or lifestyle changes may help in the treatment or management of Brittle Bone Disease:
Nutritional intake: Helps in preventing people with osteogenesis imperfecta
Exercise: Prevents bone loss and provide other health benefits
Healthy lifestyle: Avoid smoking and alcohol intake
Alternative Medicine for Treatment of Brittle Bone Disease
The following alternate medicine and therapies are known to help in the treatment or management of Brittle Bone Disease:
Physiotherapy: Strengthen the muscles and improves motility
Patient Support for Treatment of Brittle Bone Disease
The following actions may help Brittle Bone Disease patients:
Genetic counseling: Beneficial for affected individuals and their families
Time for Treatment of Brittle Bone Disease
While time-period of treatment for each patient may vary, below is the typical time-period for Brittle Bone Disease to resolve if treated properly under an expert supervision:
Disease cannot be treated but only maintained or effects reduced
Last updated date
This page was last updated on 2/04/2019.
This page provides information for Brittle Bone Disease.
