What are the symptoms of osteogenesis imperfecta Type 1?

What are the symptoms of osteogenesis imperfecta Type 1?

Symptoms of OI include:

• Easily broken bones.
• Bone deformities, such as bowing of the legs.
• Discoloration of the white of the eye (sclera), may be blue or gray in color.
• A barrel-shaped chest.
• A curved spine.
• A triangle-shaped face.
• Loose joints.
• Muscle weakness.

Is there a disease or disorder related to collagen?

A noteworthy group of maladies of unknown origin which primarily involve connective tissue has been termed collagen diseases. These include the conditions known as periarteritis nodosa or polyarteritis, dermatomyositis, scleroderma, and disseminated lupus erythematosus.

What are the symptoms of brittle bone disease?

They include:

• Broken bones (fractures)
• Bleeding and easy bruising (frequent nosebleeds or heavy bleeding after an injury)
• Blue color in the white part of the eyes.
• Bowing of the legs.
• Breathing problems.
• Brittle, discolored teeth.
• Curved spine, called scoliosis.
• Feeling very tired.

What are the 3 collagen disorders?

Types of autoimmune collagen vascular disease include:

• lupus.
• rheumatoid arthritis.
• scleroderma.
• temporal arteritis.

How is OI diagnosed?

There is no specific test for OI. Your doctor uses your medical and family history, physical exam, and imaging and lab tests to diagnose it. Your doctor may also test your collagen (from skin) or genes (from blood). There is no cure, but you can manage symptoms.

Can OI be cured?

To date, there is no known treatment, medicine, or surgery that will cure osteogenesis imperfecta (OI). The goal of treatment is to prevent deformities and fractures and allow the child to function as independently as possible. Treatments for preventing or correcting symptoms may include: Care of fractures.

What autoimmune disease affects collagen?

Systemic scleroderma: Scleroderma causes abnormal collagen growth and affects the skin, joints and other organs, and is often characterized by swelling in the fingertips, joint pain, spider veins and calcium bumps. In serious cases it may cause kidney disease and heart failure.

Which disorders is caused by the deficiency of the protein collagen?

Osteogenesis imperfecta – Caused by a mutation in type 1 collagen, dominant autosomal disorder, results in weak bones and irregular connective tissue, some cases can be mild while others can be lethal, mild cases have lowered levels of collagen type 1 while severe cases have structural defects in collagen.

What are 3 common causes of osteoporosis?

Osteoporosis is more likely to occur in people who have:

• Low calcium intake. A lifelong lack of calcium plays a role in the development of osteoporosis.
• Eating disorders. Severely restricting food intake and being underweight weakens bone in both men and women.
• Gastrointestinal surgery.

What is the life expectancy of someone with brittle bone disease?

Life expectancy for males with OI was 9.5 years shorter than that for the general population (72.4 years vs 81.9 years), and for females, was 7.1 years shorter than that for the general population (77.4 years vs 84.5 years).

What does Type 1 collagen do in the body?

Type I collagen is by far the most abundant protein in all vertebrates. It assembles into fibers that form the structural and mechanical scaffold (matrix) of bone, skin, tendons, cornea, blood vessel walls and other connective tissues.

How does OI affect the body?

Overview. Osteogenesis imperfecta, also known as brittle bone disease, is a genetic disorder that causes bones to break easily without cause. The condition affects the body’s ability to produce collagen, a protein in the body’s connective tissue.