Singleton-Merten syndrome is a very rare disease that affect many organs. The main features are tooth abnormalities with gum infection; calcifications in the aorta artery and in certain valves of the heart (i.e., aortic and mitral valves); and progressive thinning and weakening of the bone ...
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There is still no cure. The treatment is done to treat the symptoms that may be present. The Singleton-Merten syndrome is an interferonopathy. Drug options that have improved symptoms during the acute phase in people with an interferonopathy include:
- Intravenous methylprednisone
- Oral prednisone
- Intravenous immunoglobulin
Other medications that have being used include anti-rheumatic drugs such as metrotrexate, mycophenolate mofetil, azathioprine, as well as infliximab, etanercept, anakinra, tocilizumab, and rituximab but have not been effective in most cases.
Other possible treatment include:
- Treatment of tooth decay and use of dental implants as well as regular visits to the dentist
- Treatment of heart problems which may include surgery and medications
- Glaucoma treatment with eye drops, pills, laser surgery, and/or traditional surgery
- Ostoeporosis treatment such as medications known as biphosphonates
- Skin problems treatment
Treatment may require a team of medical specialists, depending on the different symptoms. Special social support, physical therapy, and other medical, social, and/or vocational services may benefit the people with the disease. Genetic counseling would be of benefit for affected individuals and their families.
The diagnosis of Singleton-Merten syndrome is based on the signs and symptoms including the teeth abnormalities, calcification of the aorta and heart valves and bone changes, as well as muscle weakness and atrophy. Other special exams that may help to make the diagnosis include:
- X-ray tests to confirm the presence and extent of calcifications in the aorta, osteoporosis, and bone defects
- Cardiac catheterization showing obstruction or narrowing (stenosis) of the heart valves, particularly the aortic and mitral valves. Catherization is a procedure where a hollow tube (catheter) is inserted into a large vein and threaded through the blood vessels leading to the heart, allowing to determine the rate of blood flow through the heart and to measure the pressure within the heart.