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Is Camurati-Engelmann disease hereditary?

Here you can see if Camurati-Engelmann disease can be hereditary. Do you have any genetic components? Does any member of your family have Camurati-Engelmann disease or may be more predisposed to developing the condition?

Is Camurati-Engelmann disease hereditary?

Yes, Camurati-Engelmann disease is hereditary. It is an autosomal dominant disorder, which means that a person only needs to inherit one copy of the mutated gene from either parent to develop the condition. The disease is caused by mutations in the transforming growth factor beta 1 (TGFβ1) gene. Genetic testing and counseling can help individuals understand their risk of passing on the disease to their children.



Camurati-Engelmann disease (CED), also known as progressive diaphyseal dysplasia, is a rare genetic disorder that affects the bones. It was first described by two physicians, Camurati and Engelmann, hence the name. CED is characterized by progressive thickening of the long bones, particularly in the diaphysis (the shaft of the bone), leading to various skeletal abnormalities and associated symptoms.



So, is Camurati-Engelmann disease hereditary?



Yes, CED is indeed a hereditary condition. It follows an autosomal dominant pattern of inheritance, which means that an affected individual has a 50% chance of passing the disease-causing gene mutation to each of their children.



The specific gene associated with CED is called the TGFβ1 gene, which provides instructions for producing a protein involved in regulating bone growth and development. Mutations in this gene result in the production of a faulty protein, leading to the characteristic bone abnormalities seen in CED.



When an individual with CED has children, each child has a 50% chance of inheriting the mutated gene and developing the disease. It is important to note that not all individuals who inherit the gene mutation will exhibit symptoms of CED. Some individuals may have a milder form of the disease or may even be asymptomatic carriers.



It is recommended that individuals with a family history of CED undergo genetic counseling and testing to assess their risk of passing on the disease-causing gene mutation to their children. Genetic counseling can provide valuable information about the inheritance pattern, recurrence risks, and available treatment options.



While CED is a hereditary condition, sporadic cases can also occur. Sporadic cases refer to individuals who develop the disease without a family history of CED. These cases are thought to result from new mutations in the TGFβ1 gene that occur during the formation of reproductive cells or early embryonic development.



Early diagnosis and management of CED are crucial to minimize the impact of the disease on an individual's quality of life. Treatment options for CED primarily focus on managing symptoms and may include pain management, physical therapy, and in severe cases, surgical interventions.



In conclusion, Camurati-Engelmann disease (CED) is a hereditary condition that follows an autosomal dominant pattern of inheritance. It is caused by mutations in the TGFβ1 gene and can be passed from affected individuals to their children. Genetic counseling and testing are recommended for individuals with a family history of CED to assess their risk and make informed decisions. Early diagnosis and appropriate management can help improve the quality of life for individuals with CED.


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When I was a young child I sufferers from extreme leg pain and shoulder pain . They thought I had arthritis it wasn't untill my second child was 3 we discovered this disease she too has extreme leg, arm , and shoulder pain she also has a extremely se...
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Mi condición fue notoria desde los 3 años de edad pero  recien a los 24 años me la diagnosticaron. Antes de esa edad no se sabía que enfermedad yo tenia. Este es el blog donde cuento más sobre mi experiencia como portadora de esta enfermedad ...
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I am currently 15 years old and have had Camurati Englemanns Disease all of my life. Luckily we found a very good doctor when I was young so it was a quick diognosis. I have never contacted someone with the same disease I guess this is because it is ...
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Hi my name is McCauli Alakayak I was born with a rare bone disease in 1999 and I wasnt diagnosed until 2004 by a Dr in Anchorage, Alaska my rare bone disease is called Camurati-Engelmann. If you want to know more about me please message me Faceboo...

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