Your QuestionAlthough we have not been diagnosed, my children and I have symptoms of amelogenesis imperfecta. Please tell me more about this condition, how it can be diagnosed, and if there is any cure or treatment available. In addition, is there any financial assistance to help pay for repair?
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Questions on this page
- What is amelogenesis imperfecta?
- How is amelogenesis imperfecta inherited?
- How is amelogenesis imperfecta diagnosed?
- How might amelogenesis imperfecta be treated?
- Can amelogenesis imperfecta be prevented?
- How can I find low-cost dental care?
- How can I find non-profit organizations that provide information on obtaining financial aid for medical treatments?
- What causes amelogenesis imperfecta?
Amelogenesis imperfecta can have different patterns of inheritance, depending on the gene that is altered. Most cases are caused by mutations in the ENAM gene and are inherited in an autosomal dominant pattern. This type of inheritance means one copy of the altered gene in each cell is sufficient to cause the disorder.
Amelogenesis imperfecta may also be inherited in an autosomal recessive pattern; this form of the disorder can result from mutations in the ENAM or MMP20 gene. Autosomal recessive inheritance means two copies of the gene in each cell are altered.
About 5 percent of amelogenesis imperfecta cases are caused by mutations in the AMELX gene and are inherited in an X-linked pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. In most cases, males with X-linked amelogenesis imperfecta experience more severe dental abnormalities than females with this form of this condition.Other cases of amelogenesis imperfecta result from new mutations in these genes and occur in people with no history of the disorder in their family.
There is no national list of dentists who diagnose and treat people with amelogenesis imperfecta. Schools of dentistry or the dental departments at major medical centers may be helpful in locating dentists who are familiar with amelogenesis imperfecta. The American Academy of Pediatric Dentistry is a good source of pediatric dentists, although any particular member of this group may or may not see people with amelogenesis imperfecta. To locate a dentist in your area, you can also contact the National Dental Association or the American Dental Association.
Detailed information on the treatment of amelogenesis imperfecta is available from the UNC School of Dentistry.
If an affected individual has a known mutation in one of the genes associated with this condition, it may be possible to test for the condition during pregnancy using fetal DNA obtained through chorionic villus sampling (CVS) or amniocentesis. Another form of genetic testing, called preimplantation genetic diagnosis (PGD), could potentially be used if a mutation has been identified in a family. To perform PGD, a couple must first undergo in vitro fertilization (IVF). One cell is removed from each of the resulting embryos and is used to perform DNA testing. Only the embryos that test negative for the mutation are put back into the mother. The availability of PGD is limited due to its high cost and a lack of centers that perform the procedure.
The National Institute of Dental and Craniofacial Research (NIDCR), one of the federal government’s National Institutes of Health, leads the nation in conducting and supporting research to improve oral health. As a research organization, NIDCR does not provide financial assistance for dental treatment. The following resources, however, may help you find the dental care you need. NIDCR sometimes seeks volunteers with specific dental, oral, and craniofacial conditions to participate in research studies, also known as clinical trials. Researchers may provide study participants with limited free or low-cost dental treatment for the particular condition they are studying. Visit the NIDCR Web site to learn more about NIDCR clinical trials.
For a complete list of all federally funded clinical trials, visit http://clinicaltrials.gov. You can also call the Patient Recruitment and Public Liaison Office at 1–800–411–1222 to see if you qualify for any clinical trials taking place at the National Institutes of Health campus in Bethesda, Maryland.
Dental schools can be a good source of quality, reduced-cost dental treatment. Most of these teaching facilities have clinics that allow dental students to gain experience treating patients while providing care at a reduced cost. Experienced, licensed dentists closely supervise the students. Post-graduate and faculty clinics are also available at most schools.
Dental hygiene schools may also offer supervised, low-cost preventive dental care as part of the training experience for dental hygienists. To find out if there are schools of dentistry or dental hygiene in your area, call your state dental society or association. These organizations are listed in your telephone book. Visit the American Dental Association Web site for a complete list of U.S. dental schools. The American Dental Hygienists’ Association Web site lists U.S. dental hygiene programs.
You can also contact the National Oral Health Information Clearinghouse at:National Oral Health Information Clearinghouse
1 NOHIC Way
Bethesda, Maryland 20892–3500
The Bureau of Primary Health Care, a service of the Health Resources and Services Administration (HRSA), supports federally-funded community health centers across the country that provide free or reduced-cost health services, including dental care. To obtain a list of centers in your area, contact the HRSA Information Center toll-free at 1–888–Ask–HRSA (1–888–275–4772) or visit their web site at http://findahealthcenter.hrsa.gov.
The Centers for Medicare & Medicaid Services (CMS) administers three important federally-funded programs: Medicare, Medicaid, and the Children’s Health Insurance Program (CHIP). Medicare is a health insurance program for people who are 65 years and older or for people with specific disabilities. Medicare does not cover most routine dental care or dentures. Visit http://www.cms.gov/MedicareDentalCoverage/.
Medicaid is a state-run program that provides medical benefits, and in some cases dental benefits, to eligible individuals and families. States set their own guidelines regarding who is eligible and what services are covered. Most states provide limited emergency dental services for people age 21 or over, while some offer comprehensive services. For most individuals under the age of 21, dental services are provided under Medicaid. Visit http://www.cms.gov/mmrr/Downloads/MMRR2013_003_03_b01.pdf.
CHIP helps children up to age 19 who are without health insurance. CHIP provides medical coverage and, in most cases, dental services to children who qualify. Dental services covered under this program vary from state to state. Visit http://www.cms.gov/CHIPDentalCoverage/.
CMS can provide detailed information about each of these programs and refer you to state programs where applicable. If you currently have Medicare, call 1–800–MEDICARE (1–800–633–4227). Others may call 1–877–267–2323 or visit the CMS web site at http://www.cms.gov. You can also write to them at the address below:
Centers for Medicare & Medicaid Services
7500 Security Boulevard
Baltimore, Maryland 21244
Your state or local health department may know of programs in your area that offer free or reduced-cost dental care. Call your local or state health department to learn more about their financial assistance programs. You can click on the link above to view health departments by state.
Finally, the United Way may be able to direct you to free or reduced-cost dental services in your community. Check your telephone book for the number of your local United Way chapter.
Information on financial aid for medical treatments can be obtained from the following patient advocacy organizations:
Patient Advocate Foundation
700 Thimble Shoals Boulevard
Newport News, VA 23606
Online e-mail request form: http://gallery.patientadvocate.org/requests/paf_cm_request.php/
Web site: http://www.patientadvocate.org/
2340 Alamo SE, Suite 102
Albuquerque, NM 87106
Online E-mail Contact Form: http://www.familyvoices.org/contact
Web site: http://www.familyvoices.org/
211 Information and Referral services provide people with local information about and referrals to human services for everyday needs and in times of crisis.
Also community voluntary agencies and service organizations such as the Salvation Army, Lutheran Social Services, Jewish Social Services, Catholic Charities, and the Lions Club often offer help. These organizations are listed in your local phone directory. Some temples, mosques, churches, and synagogues may provide financial help or services to their members.Fundraising is another mechanism to consider. Some patients find that friends, family, and community members are willing to contribute financially if they are aware of a difficult situation. Contact your local library for information about how to organize fundraising efforts
In some cases, the genetic cause of amelogenesis imperfecta can not been identified. Researchers are working to find mutations in other genes that are responsible for this disorder.
Click on each gene name to learn more about the role it plays in the development of tooth enamel.
- Wright JT. Amelogenesis Imperfecta. Developmental Defects of the Teeth. https://www.dentistry.unc.edu/dentalprofessionals/resources/defects/ai/. Accessed 9/17/2015.
- Amelogenesis imperfecta. Genetics Home Reference (GHR). May 2015; http://ghr.nlm.nih.gov/condition/amelogenesis-imperfecta. Accessed 9/10/2015.
- Crawford PJM, Aldred M & Bloch-Zupan A. Amelogenesis imperfecta. Orphanet. April, 2007; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=88661. Accessed 9/10/2015.
- Amelogenesis imperfecta. MedlinePlus. February 25, 2014; http://www.nlm.nih.gov/medlineplus/ency/article/001578.htm. Accessed 9/17/2015.