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A 31-year-old member asked:

what mutation type causes duchenne muscular dystrophy?

5 doctor answers10 doctors weighed in
Dr. Chad Rudnick
Pediatrics 10 years experience
Duchenne MD: Duchenne muscular dystrophy is caused by a defective gene for dystrophin (a protein in the muscles). It is inherited in an X-linked recessive fashion, but it often occurs in people from families without a known family history of the condition. Children with the condition should be followed with a multi-specialist team approach
Dr. Johanna Fricke
Developmental and Behavioral Pediatrics 50 years experience
DMD is caused by: mutation of Xp21.2-p21.1, a large gene that encodes dystrophin, a muscle protein. Deletions in specific areas of the gene are associated with cognitive impairment, verbal memory, auditory comprehension, increased risk of ADHD & Autistic Spectrum Disorder. Each son of a carrier mom has a 50% chance of having DMD. Carrier girls can have muscle weakness, including heart. See mda.org & a geneticist.
Dr. Lois Freisleben-Cook
Pediatrics 41 years experience
Mutation in: the gene for a protein called dystrophin which is responsible for holding muscles together, is unable to produce any of the protein. The gene is on the X chromosome. A milder form of muscular dystrophy, Becker muscular dystrophy, occurs when the gene produces too little or poorly functioning dystrophin. Partialhttp://mda.org/disease/duchenne-muscular-dystrophy
Dr. Chad Rudnick
Pediatrics 10 years experience
Duchenne MD: Duchenne muscular dystrophy is caused by a defective gene for dystrophin (a protein in the muscles). It is inherited in an X-linked recessive fashion, but it often occurs in people from families without a known family history of the condition. Children with the condition should be followed with a multi-specialist team approach
Dr. Johanna Fricke
Developmental and Behavioral Pediatrics 50 years experience
DMD is caused by: mutation of Xp21.2-p21.1, a large gene that encodes dystrophin, a muscle protein. Deletions in specific areas of the gene are associated with cognitive impairment, verbal memory, auditory comprehension, increased risk of ADHD & Autistic Spectrum Disorder. Each son of a carrier mom has a 50% chance of having DMD. Carrier females need testing for cardiomyopathy, heart muscle disease. . See mda.org

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A 21-year-old member asked:

How can we tell our child about his muscular distrophy in a truthful but not frighteneing way?

2 doctor answers3 doctors weighed in
Dr. Glen Elliott
Child Psychiatry 43 years experience
Gently and gradually: Children have the right to know when they have a problem, especially one as serious as muscular dystrophy. However, there are various types of MS that have quite different courses. Starting with validating the symptoms as "real" not imaginary can be a great first step. Making it clear they can ask questions and get real answers is the major goal.
A 41-year-old member asked:

What sort of disorder is having a fraxa (fragile x) mutation?

2 doctor answers6 doctors weighed in
Dr. Jay Park
Dr. Jay Parkanswered
Pediatrics 50 years experience
Mental retardation: Fragile x syndrome is the most common inherited form of mentardation and accounts for 6% of mental retardation in male.
A 46-year-old member asked:

Do all sickle cell patients have the exact same mutation?

1 doctor answer3 doctors weighed in
Dr. Kelty Baker
Hematology 28 years experience
Sickle cell anemia: There are many different types of sickle cell anemia. How bad someone's disease is depends on which part of africa their family originally came from and whether the sickle cell gene is combined with any other hemoglobin mutations. For instance, sickle cell + hemoglobin c or sickle cell + thalassemia often gives the patient milder disease than plain sickle cell anemia.
A 45-year-old member asked:

My wife's father had muscular dystrophy what are the chances of passing it on?

2 doctor answers9 doctors weighed in
Dr. Djamchid Lotfi
Neurology 58 years experience
Depends: Different types of muscle disease have different genetic and hereditary manifestations see a muscle specialist forgenetic counseling.
A 32-year-old member asked:

Can grandparents carry a mutation to cause Asperger syndrome in grandchildren, skipping a generation?

1 doctor answer8 doctors weighed in
Dr. Elizabeth Finley-Belgrad
Child Psychiatry 34 years experience
Not that simple: For the most part what are inherited are genes coding for (snp)single nucleotide polymorphisims-different forms of enzymes that do not digest certain proteins. It is possible to be the contributor of (at most 1/4 total)genes that might contribute to certain symptom patterns.

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