About diaphyseal dysplasia camurati-engelmann

What is diaphyseal dysplasia camurati-engelmann?

Camurati-Engelmann disease is a rare genetic disorder characterized by progressive widening and malformation of the shafts of the long bones (diaphyseal dysplasia). Major symptoms may include bone pain, particularly in the legs; skeletal abnormalities; and/or weakness and underdevelopment (hypoplasia) of various muscles. Pain and weakness of the leg muscles may result in an unusual "waddling" walk (gait). Camurati-Engelmann disease is inherited as an autosomal dominant trait.

What are the symptoms for diaphyseal dysplasia camurati-engelmann?

The first signs and symptoms of CED are usually limb pain, a waddling gait, muscle weakness, and extreme tiredness. If the bones at the base of the skull are affected, the individual may experience headaches, hearing loss, vision problems, vertigo, tinnitus, and even facial paralysis. Additional musculoskeletal features include scoliosis, joint contractures, knock knees, and flat feet. The individual may also present with abnormally long limbs in proportion to the height of their body, a decrease in muscle mass and body fat, visible prominence of the long bones in the legs, and rarely delayed puberty. While the first signs and symptoms can appear at varying ages, most appear during childhood or adolescence.

The signs and symptoms of CED can be extremely variable even among affected family members. Some individuals with a TGFB1 mutation do not develop signs or symptoms of the disease or evidence of increased bone density on X-ray examination (i.e., reduced penetrance).

What are the causes for diaphyseal dysplasia camurati-engelmann?

CED is caused by mutations in TGFB1 which encodes transforming growth factor beta-1 protein. This protein helps control the growth and proliferation of cells, the process by which the cells mature and begin to specify (differentiate), cell movement, and cell directed self-destruction (apoptosis). The specific protein plays a huge role during prenatal development in the formation of blood vessels, the regulation of muscle tissue and body fat development, wound healing, and immune system function. The protein is most abundant in skeletal tissue and the extracellular matrix that provides structural support and nutrients to the surrounding cells.

Normally, TGFB1 is inactive until a chemical signal is sent to turn it on. TGFB1 mutations that cause CED result in the gene being always turned on and active. This leads to increased bone density and decreased fat and muscle tissue, contributing to the symptoms listed above. Most individuals with CED have a TGFB1 mutation identified on molecular genetic testing, but some affected individuals do not.

CED is inherited as an autosomal dominant condition. This occurs when only a single copy of the mutated gene is needed to cause a specific disorder. The altered gene can be inherited from either parent, or can be a new mutation in the affected individual. The risk of transmitting the disease to the offspring of an affected parent is 50%, and is the same for males and females. Rarely, the disease can come from a spontaneous genetic mutation in the egg or sperm cell. In these people, the disease isn’t inherited from the one of the parents, but the individual can still pass it to their offspring.

What are the treatments for diaphyseal dysplasia camurati-engelmann?

Treatment for CED consists of management of symptoms. To manage the pain caused by the thickening of the bones, individuals may be treated with corticosteroids, and non-steroidal anti-inflammatory drugs (NSAIDs). Corticosteroids have shown benefits in affected individuals. Although they are helpful to improve walking, the major side effects of taking corticosteroids long term may outweigh the benefits of the drugs. Some of these side effects include high blood sugar, increased risk of infections, and suppressed adrenal hormone production. Losartan has been reported to reduce limb pain and increase muscle strength in some individuals. No formal studies have been completed on the efficacy of losartan and data are limited on the long term effects and benefits of this drug.

For those with hearing problems caused by the thickening of the bones of the base of the skull, decompression surgery in which a small piece of the base of the skull is removed has been done in some individuals with mixed results. This procedure can result in an increased risk of complications as well as the possibility for bone to re-grow after the surgery.

What are the risk factors for diaphyseal dysplasia camurati-engelmann?

Diaphyseal dysplasia Camurati-Engelmann (DCD) is a genetic disorder that affects the growth of bones in children and young adults. It is caused by a mutation in the COL2A1 gene, which encodes a protein called type II collagen. This mutation results in an abnormal production of type II collagen, causing the bones to grow abnormally and become weak over time. The disease causes progressive limb deformities, joint pain, and arthritis due to impaired mobility.

The following are risk factors for DCD:

1. Age: Most cases of DCD occur during childhood or adolescence. Older adults are rarely affected by this condition because their bones have already finished growing by adulthood.

2. Sex: DCD affects males more often than females because it requires two copies of an mutated gene rather than just one copy (as with most genetic conditions).

3. It's genetic: Diaphyseal dysplasia camurati-engelmann is a genetic disorder. That means that you have to have the gene that causes it, or you won't develop the disease. But if you do have the gene, it doesn't mean that you're guaranteed to get it—you still have to be exposed to something in your environment that triggers the gene.

4. You need to be exposed to radiation: There are several types of radiation that can cause diaphyseal dysplasia camurati-engelmann, including x-rays and gamma rays (like those used in nuclear medicine). If you're exposed to radiation while still in the womb, it can cause mutations in your DNA and lead to this disease later on in life.

5. You need sunlight exposure too: It might seem like you could just stay inside all year long and avoid any sources of radiation—but even sunlight can contribute to the development of diaphyseal dysplasia camurati-engelmann if it's too strong. The best thing for people with this disease is to avoid direct sunlight at all costs (even if it means wearing long sleeves and pants outside), and wear sunglasses when going outside.

Bone deformities,Joint stiffness and swelling,Pain and tenderness in joints and muscles,Short stature with abnormally long arms and legs
Bone diseases,Camurati-Engelmann disease,Disuse osteoporosis,Hypophosphatasia,Osteogenesis imperfecta

Is there a cure/medications for diaphyseal dysplasia camurati-engelmann?

There is no cure for diaphyseal dysplasia camurati-engelmann. However, there are medications that can help manage the pain and other symptoms of the disease.

1. The most common medication prescribed for the disorder is a non-steroidal anti-inflammatory drug (NSAID) called indomethacin. This drug can help reduce joint pain and swelling in patients with diaphyseal dysplasia camurati-engelmann.

2. Another medication that may be prescribed is an analgesic called acetaminophen, which is often used as a safer alternative to NSAIDs for treating pain.

Other Medications include:

1. Calcitonin: This medication helps to reduce bone pain and helps to slow the progression of the disease. It must be administered by injection every two hours around the clock for about 6 months. The injections can be painful and may cause nausea, vomiting or diarrhea in some people.

2. Bisphosphonates: These drugs work by slowing down the breakdown of bone tissue and help to strengthen weak bones. They are usually taken once a day as an oral medication or intravenously as a treatment for severe pain from fractures or deformities caused by this condition.

3. Corticosteroids: These medications help to reduce inflammation in muscles and joints which can lead to pain associated with this condition. Corticosteroids are usually given orally or intravenously depending on how severe your symptoms are at any given time throughout treatment duration which can last up to 2 years depending on severity level experienced by the patient during the therapy process prior.

4. Painkillers, such as acetaminophen (Tylenol) or ibuprofen (Advil)

5. Antidepressants, such as amitriptyline (Elavil), which may be able to reduce pain by helping you sleep better at night

6. Anti-inflammatory drugs such as celecoxib (Celebrex), which may help reduce swelling of your joints and muscles.

Bone deformities,Joint stiffness and swelling,Pain and tenderness in joints and muscles,Short stature with abnormally long arms and legs
Bone diseases,Camurati-Engelmann disease,Disuse osteoporosis,Hypophosphatasia,Osteogenesis imperfecta

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