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  • Bone disease


    Bone disease refers to the medical conditions which affect the bone.

  • Fragile X syndrome


    Fragile X syndrome (FXS) is a genetic disorder. Symptoms often include mild to moderate intellectual disability. The average IQ in males is under 55. Physical features may include a long and narrow face, large ears, flexible fingers, and large testicles. About a third of those affected have features of autism such as problems with social interactions and delayed speech. Hyperactivity is common and seizures occur in about 10%. Males are usually more affected than females. Fragile X syndrome is inherited in an X-linked dominant pattern. Women with a premutation have an increased risk of having an affected child. It is typically due to an expansion of the CGG triplet repeat within the Fragile X mental retardation 1 (FMR1) gene on the X chromosome. This results in not enough fragile X mental retardation protein (FMRP), which is required for the normal development of connections between neurons. Diagnosis is by genetic testing to determine the number of CGG repeats in the FMR1 gene. Normal is between 5 and 40 repeats, fragile X syndrome occurs with more than 200, and a premutation is said to be present when a middle number of repeats occurs. Testing for premutation carriers may allow for genetic counseling. There is no cure. Early intervention is recommended as it provides the most opportunity for developing a full range of skills. These interventions may include special education, speech therapy, physical therapy, or behavioral therapy. Medications may be used to treat associated seizures, mood problems, aggressive behavior, or ADHD. Fragile X syndrome is estimated to occur in 1.4 in 10,000 males and 0.9 in 10,000 females.

  • Osteogenesis imperfecta


    Osteogenesis imperfecta (OI), also known as brittle bone disease, is a group of genetic disorders that mainly affect the bones. It results in bones that break easily. The severity may be mild to severe. Other symptoms may include a blue tinge to the whites of the eye, short height, loose joints, hearing loss, breathing problems and problems with the teeth. Complications may include cervical artery dissection and aortic dissection. The underlying mechanism is usually a problem with connective tissue due to a lack of type I collagen. This occurs in more than 90% of cases due to mutations in the COL1A1 or COL1A2 genes. These genetic problems are often inherited from a person's parents in an autosomal dominant manner or occur via a new mutation. There are eight types, with type I being the least severe and type II the most severe. Diagnosis is often based on symptoms and may be confirmed by collagen or DNA testing. There is no cure. Maintaining a healthy lifestyle by exercising and avoiding smoking can help prevent fractures. Treatment may include care of broken bones, pain medication, physical therapy, braces or wheelchairs and surgery. A type of surgery that puts metal rods through long bones may be done to strengthen them. Tentative evidence supports the use of medications of the bisphosphonate type. OI affects about one in 15,000 people. Outcomes depend on the type of disease. Most people, however, have good outcomes. The condition has been described since ancient history. The term "osteogenesis imperfecta" came into use in 1895 and means imperfect bone formation.

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