Duchenne muscular dystrophy
- Muscular dystrophy, Duchenne
- Muscular dystrophy, pseudohypertrophic progressive, Duchenne type
- Severe dystrophinopathy, Duchenne type
Your QuestionSeveral members of my husband's family are carriers of Duchenne and Becker muscular dystrophy. My husband does not have the disease. What are the chances of passing on this condition to any children we may have?
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In about two thirds of cases, an affected male inherits the mutation from a mother who carries an altered copy of the DMD gene. The other one third of cases probably result from new mutations in the gene.
In X-linked recessive inheritance, a female with one mutated copy of the gene in each cell is called a carrier. She can pass on the altered gene, but usually does not experience signs and symptoms of the disorder. Occasionally, however, females who carry a DMD mutation may have muscle weakness and cramping. These symptoms are typically milder than the severe muscle weakness and atrophy seen in affected males. Females who carry a DMD mutation also have an increased risk of developing heart abnormalities including dilated cardiomyopathy.
Duchenne and Becker muscular dystrophy are inherited in an X-linked recessive manner. Because of the difference in sex chromosomes, the probability of passing on an X-linked recessive disorder also differs between men and women. The sons of a man with an X-linked recessive disorder will not be affected, and his daughters will carry one copy of the mutated gene (illustration). With each pregnancy, a woman who carries an X-linked recessive disorder has a 50 percent chance of having sons who are affected and a 50 percent chance of having daughters who carry one copy of the mutated gene (illustration).
Although the chances of inheriting a genetic condition appear straightforward, factors such as a person’s family history and the results of genetic testing can sometimes modify those chances. In addition, some people with a disease-causing mutation never develop any health problems or may experience only mild symptoms of the disorder. Estimating the chance of developing or passing on a genetic disorder can be complex. Genetics professionals can help people understand these chances and help them make informed decisions about their health.
Genetics clinics are a source of information for individuals and families regarding genetic conditions, treatment, inheritance, and genetic risks to other family members. More information about genetic consultations is available from Genetics Home Reference. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral.
The following online resources can help you find a genetics professional in your community:
- GeneTests has a searchable directory of US and international genetics and prenatal diagnosis clinics.
- The National Society of Genetic Counselors provides a searchable directory of US and international genetic counseling services.
- The American College of Medical Genetics has a searchable database of US genetics clinics.
- The University of Kansas Medical Center provides a list of US and international genetic centers, clinics, and departments.
- The American Society of Human Genetics maintains a database of its members, which includes individuals who live outside of the United States. Visit the link to obtain a list of the geneticists in your country, some of whom may be researchers that do not provide medical care.
- Duchenne and Becker muscular dystrophy. Genetics Home Reference. February, 2012; http://www.ghr.nlm.nih.gov/condition/duchenne-and-becker-muscular-dystrophy. Accessed 3/5/2014.
- C Boulay, Brigitte Chabrol. Duchenne and Becker muscular dystrophy. Orphanet. August, 2007; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=262. Accessed 3/5/2014.
- Kaneshiro NK, Hoch DB. Becker's muscular dystrophy. MedlinePlus. 2008; http://www.nlm.nih.gov/medlineplus/ency/article/000706.htm. Accessed 11/18/2009.
- Duchenne and Becker muscular dystrophy. Genetics Home Reference (GHR). 2007; http://www.ghr.nlm.nih.gov/condition=duchenneandbeckermusculardystrophy. Accessed 11/18/2009.
- If a genetic disorder runs in my family, what are the chances that my children will have the condition?. Genetics Home Reference (GHR). 2009; http://ghr.nlm.nih.gov/handbook/inheritance/riskassessment. Accessed 10/26/2009.