Here is what I know.....

Ok, here is some basic information that I know of concerning the disease....
-As a child you can have rotten, blackened, holey teeth

-A person can get "Bell's Palsy"-this is from the calcium growing on the cranium and squeezing the facial nerves

-The ages between 12-20 are the MOST important years for a person to injest Calcium/Vitamin D for their later years in life-this is to prevent breaks and/or other issues with the bones.

-The adult onset literally can start with puberty-I was diagnosed with it when I was 13 years old and they stated the onset was due to puberty.

-It can be diagnosed with xrays or with a genetic test.

-The features are pathologic alteration of osteoclastic bone resorption and thickening of cortical and lamellar bones.-per an article from the American Family Physician on Osteopetrosis by Jerome Carolino, M.D, Juan A. Perez, M.D and Anca Popa, M.D from Saint Mary Hospital, Hoboken, New Jersey

-Clinical features are no bone marrow failure; brittle bones; increased susceptibility to fractures but with normal healing; degenerative joint disease; 50% of patients are asymptomatic -per an article from the American Family Physician on Osteopetrosis by Jerome Carolino, M.D, Juan A. Perez, M.D and Anca Popa, M.D from Saint Mary Hospital, Hoboken, New Jersey

-However, about 40 percent of patients present with fractures related to brittle osteopetrotic bones or with osteomyelitis, especially of the mandible.4 There is sufficient retention of marrow cavity for normal hematopoiesis to occur in patients with osteopetrosis tarda. In some cases, there is an elevated acid phosphatase level.4 Although patients with osteopetrosis tarda have an increased susceptibility to fractures, healing appears to proceed normally.1.-per an article from the American Family Physician on Osteopetrosis by Jerome Carolino, M.D, Juan A. Perez, M.D and Anca Popa, M.D from Saint Mary Hospital, Hoboken, New Jersey

•Adult osteopetrosis (also called benign osteopetrosis) is diagnosed in late adolescence or adulthood.

◦Types of Adult Osteopetrosis-Benign has two distinct types have been described, type I and type II, on the basis of radiographic, biochemical, and clinical features.8 Table 3.

-Types of Adult Osteopetrosis:
(the information from this article is from Osteopetrosis Author: Anuj Bhargava, MD,, Adjunct Assistant Professor, Drake College of Pharmacy; Co-Director, Diabetes Institute, Mercy Medical Center; President, Iowa Diabetes and Endocrinology Research Center ;Coauthor(s): Robert Blank, MD, PhD, Associate Professor, Section of Endocrinology, University of Wisconsin Medical School; Consulting Staff, William S Middleton Veterans Affairs Medical Center;
Contributor Information and Disclosures) Updated: Oct 13, 2009


Characteristic Type I :Skull sclerosis Marked sclerosis mainly of the vault ;Spine Does not show much sclerosis;Pelvis No endobones;Transverse banding of metaphysis Absent;Risk of fracture Low;Serum acid phosphatase Normal

Characteristic Type II:Skull Sclerosis mainly of the base;Spine shows the rugger-jersey appearance; Pelvis Shows endobones in the pelvis; Transverse banding of metaphysis may or may not be present
Risk of fracture High: Serum acid phosphatase Very high

◦Research has demonstrated that the clinical syndrome of adult type I osteopetrosis is not true osteopetrosis, but that it is instead increased bone mass due to activating mutations of LRP5.9 These mutations cause increased bone mass but no associated defect of osteoclast function. Instead, some have hypothesized that the set point of bone responsiveness to mechanical loading is altered, resulting in an altered balance between bone resorption and deposition in response to weight bearing and muscle contraction.

◦Some cases of type II osteopetrosis result from mutations of CLCN7, the type 7 chloride channel.10,11 However, in other families with the clinical syndrome of type II adult osteopetrosis, linkage to other distinct genomic regions have been demonstrated. Therefore, the clinical syndrome is genetically heterogeneous.

◦Approximately one half of patients are asymptomatic, and the diagnosis is made incidentally, often in late adolescence because radiologic abnormalities start appearing only in childhood. In other patients, the diagnosis is based on family history. Still other patients might present with osteomyelitis or fractures.

◦Many patients have bone pains. Bony defects are common and include neuropathies due to cranial nerve entrapment (eg, with deafness, with facial palsy), carpal tunnel syndrome, and osteoarthritis. Bones are fragile and might fracture easily. Approximately 40% of patients have recurrent fractures. Osteomyelitis of the mandible occurs in 10% of patients.

◦Bone marrow function is not compromised.

◦Other manifestations include visual impairment due to retinal degeneration and psychomotor retardation.
 
Hopefully, this information will help guide you in some of your search regarding this disease.
 
Peace,
Stephanie