what mutation type causes duchenne muscular dystrophy?

Question

What is the cause of frequent respiratory infections in children with duchenne muscular dystrophy ?

Answer 1

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

Answer 2

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.

Answer 3

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

Answer 4

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

Answer 5

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

Answer 6

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.

Answer 7

Gently: Tell him he is special. His muscles are different and react different than others. And just like other people we are all different in our own way.

Answer 8

Mental retardation: Fragile x syndrome is the most common inherited form of mentardation and accounts for 6% of mental retardation in male.

Answer 9

Chrms dfct > on male: Fragile x is a term used for a fragile site(non-staining gap) on the long arm of the x when chms are studied. Since males have only one x, the defective one influences outcome, with mental deficiencies altered physical features.The kids mother has 2 x's, 1 fragile & 1 nl & usually the nl one prevents problems but not always.This is a male dominated form of significant mental deficiency.

Answer 10

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.

Answer 11

Depends: Different types of muscle disease have different genetic and hereditary manifestations see a muscle specialist forgenetic counseling.

Answer 12

It depends: There are many types of muscular dystrophy, so inheritance risk depends on which type. I would suggest that you find out the specific type and meet with a genetic counselor to find out your families specific risk.

Answer 13

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.

what mutation type causes duchenne muscular dystrophy?

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