Osteopetrosis (Marble Bone Disease) | Causes, Symptoms, Diagnosis, Treatment

Osteopetrosis (Marble Bone Disease) | Causes, Symptoms, Diagnosis, Treatment
Osteopetrosis (also known as Marble Bone Disease) is a bone condition involving defective osteoclast functioning, leading to thickened and dense but fragile bones. There are multiple types of Osteopetrosis, including Infantile, Intermediate and Adult Onset, each of which differs in severity and symptomatology. In this lesson, we discuss the gene mutations that can cause osteopetrosis, the differences in symptoms between the different types, how it’s diagnosed and how it’s treated.
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JJ
REFERENCES
emedicine.medscape.com/articl...
www.ncbi.nlm.nih.gov/books/NB...
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[@zennr_]

My father has this disease. I think it was first diagnosed during his teen years, type 2. A very bad case of it. What makes his case interesting is that no one in our family had it before, and its an inhereditary disease. Which means it was a gene mutation in his part, his 2 brothers also have it but way less severe. Even more strange is that i didnt inherit it (atleast, hasnt been diagnosed yet if i do have it). I was run through analysis after i was born and during my couple bone fracturing accidents but it wasnt detected in those areas atleast. I know the mortality rate for the infant onset so i consider myself lucky, but also glad that my parents decided to have me despite the risk. Theyve told me they thought long about if they want to make a child or not. But here i am, hopefully without this disease.

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