Osteogenesis Imperfecta

Osteogenesis imperfecta (OI) is a genetic disorder in which bones break easily. Sometimes the bones break for no known reason. OI can also cause weak muscles, brittle teeth, a curved spine and hearing loss. The cause is a gene defect that affects how you make collagen, a protein that helps make bones strong. Usually you inherit the faulty gene from a parent. Sometimes, it is due to a mutation, a random gene change.

OI can range from mild to severe and symptoms vary from person to person. A person may have just a few or as many as several hundred fractures in a lifetime. There is no cure, but you can manage symptoms. Treatments include exercise, pain medicine, physical therapy, wheelchairs, braces and surgery.

National Institute of Arthritis and Musculoskeletal and Skin Diseases

Osteogenesis Imperfecta on Wikipedia

'''Osteogenesis imperfecta''' ('''OI'''), commonly known as '''brittle bone disease''', is a group of genetic disorder bone disorders. People with OI do not produce enough good quality collagen to produce healthy, strong bones. Collagen is an important protein and without a good enough supply the bones are weak and break very easily. As a genetic disorder, OI is a autosomal dominant defect. Most people with OI receive it from a parent but it can also be an individual (''de novo'' or "sporadic") mutation.

Types

There are four types of OI, though the symptoms range from person to person. Type I is the most common and mildest form, followed by Type IV, Type III and Type II.

Type I

Collagen is normal but not of a high enough ''quantity'': *Bones fracture easily, especially before puberty *Slight spinal curvature *Loose joints *Poor muscle tone *Discolouration of the sclera (whites of the eyes) *Early loss of hearing

Type II

Collagen is not of a sufficient ''quality'' or ''quantity'' *Most cases die before adulthood *Severe respiratory problems due to underdeveloped lungs *Severe bone deformity and small stature

Type III

Collagen quantity is sufficient but is not of a high enough ''quality'' *Bones fracture easily, sometimes even before birth *Bone deformity, often severe *Respiratory problems possible *Short stature, spinal curvature and barrel-shaped rib cage *Loose joints *Poor muscle tone in arms and legs *Discolouration of the sclera (whites of the eyes) *Early loss of hearing

Type IV

Collagen quantity is sufficient but is not of a high enough ''quality'' *Bones fracture easily, especially before puberty *Short stature, spinal curvature and barrel-shaped rib cage *Bone deformity is mild to moderate *Discolouration of the sclera (whites of the eyes) *Early loss of hearing

Treatment

There are no known cures for osteogenesis imperfecta, with the emphasis being on prevention of breakages. ... [ Read More ]

External Resources

Osteogenesis Imperfecta: The Links to Nutrition - Reviews the possible role of nutrition in this disorder. Questions whether it is solely a genetic condition.

Osteogenesis Imperfecta Information - Resources gathered by the mother of a child with the disease. Includes a personal page about her son Jojo, his disease, treatment, and progress.

The Osteogenesis Imperfecta Mailing List - For the discussion of any issues relating to OI. Open to both professionals and families.

Brittle Bone Society - The UK charity providing support for people with osteogenesis imperfecta.

Osteogenesis imperfecta hub - Links to overviews, clinical trials, images, research articles and abstracts for osteogenesis imperfecta.

Osteogenesis Imperfecta Federation Europe - Information on Osteogenesis Imperfecta around Europe

Osteogenesis Imperfecta - Fact sheets from the National Institutes of Health.

Osteogenesis Imperfecta - Overview from the University of Maryland.

Osteogenesis Imperfecta - Article from eMedicine.

Osteogenesis Imperfecta Foundation - Supports and encourages medical research and disseminates information to patients, their families, and medical professionals

Related Pages on HealthTales.com:

Dentinogenesis imperfecta
Amelogenesis imperfecta

Osteogenesis Imperfecta