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Doctor insights on: Peroneal Muscular Atrophy Genetics Birth Defects

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What symptoms of peroneal muscular atrophy are the most important?

What symptoms of peroneal muscular atrophy are the most important?

Weakness: Peroneal muscular atrophy is also know as charcot marie tooth disease (cmt), a genetic polyneuropathy that results in foot and leg weakness, potential for falls, secondary injury due to falls (e.g. Fractures), to name a few. Without getting into too much depth, much of the debility from this condition is due to the effects of foot/ankle/leg weakness. ...Read more

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Genetic (Definition)

From a medical standpoint, "genetic" refers to the potential heritability of various medical conditions. While some conditions are inevitable (at some point in one's life) as a consequence of simple genetic heritability (eg huntington's disease), a large number of medical conditions (including all behaviorial health disorders) are the expressed final pathway of a ...Read more


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Is there a gentle way to treat peroneal muscular atrophy?

Is there a gentle way to treat peroneal muscular atrophy?

Yes: Depends on what you consider gentle. Generally, physical therapy, bracing, orthotics, and conservative measures (heat/ice, analgesic balms for muscle soreness) are employed. ...Read more

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What is the definition or description of: Peroneal muscular atrophy?

What is the definition or description of: Peroneal muscular atrophy?

Nerve disorders: it's when there is a deficit in the function of the perineal nerve that innervates particular muscle groups, and those group become smaller, or atrophic, because of decreased muscle innervation ...Read more

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What are the tests for peroneal muscular atrophy?

What are the tests for peroneal muscular atrophy?

Several: Several including: muscle biopsy, peripheral nerve biopsy, electrodiagnostic studies, blood tests as well as imaging studies of the spine and possibly brain depending on other clinical symptoms or findings as well as the history of this problem and family history if pertinent. A neurologist would be the one to see for a complete evaluation. ...Read more

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A neighbor child has SMA (spinal muscular atrophy). Is this a genetic disease?

A neighbor child has SMA (spinal muscular atrophy). Is this a genetic disease?

Yes: It's an autosomal recessive disease. That means that it takes a copy of the defective gene from each parent. Most of the time the parents of a child with sma are carriers, meaning they only have one copy of the defective gene. It is not contagious. ...Read more

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Sickle cell anemia:is this birth defect only due to genetics?

Sickle cell anemia:is this birth defect only due to genetics?

Yes: It is a defect present from birth, yes. Would i call it a birth defect, no. It is a genetically derived abnormality in the metabolism of hemoglobin that results in sickling of the red cells under some circumstances. As a metabolic disease, it is inherited in a similar fashion to pku or cystic fibrosis. The term birth defect is more appropriate for a kid with malformation of an organ or body part. ...Read more

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Can genetic testing prevent birth defects in pregnancy?

Can genetic testing prevent birth defects in pregnancy?

Nope.: Genetic prenatal testing can detect many chromosomal or microscopic dna defects - but it cannot prevent birth defects! 2-4% of all newborns will have a minor or major birth defect and the vast majority of those have unknown genetic underpinnings at this time, although many of us are working to change that. Take Folic Acid 1-5 mg daily to prevent 75-95% of major neural/cardiac fetal anomalies! ...Read more

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What genetic birth defects are associated when two first cousins have a baby?

What genetic birth defects are associated when two first cousins have a baby?

Autosomal recessive: There is increased risk of autosomal recessive type genetic disorders when close family members have a baby together. There are many of them but some examples include cystic fibrosis, sickle cell anemia, and Tay-Sachs disease. ...Read more

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Is clinodactyly a genetic disorder, birth defect?

Is clinodactyly a genetic disorder, birth defect?

Yes, but .....: Clinodactyly is a curve of one or more fingers, which is pretty common, especially for the pinkies, and no big deal at all. Technically it's a minor birth defect and usually not a sign of any problem. But sometimes it's one component of a rare genetic syndrome, like wahab syndrome (http://omim.Org/entry/615170) or a more common one, like down syndrome. I have a little clinodactyly myself! ...Read more

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Do people who suffer from muscular atrophy tend to get depression?

Do people who suffer from muscular atrophy tend to get depression?

Depression: Depending on severity & duration of illness, some experience limitations severe enough to feel demoralized & despondent, especially if treatment not available or not productive. ...Read more

Atrophy (Definition)

Atrophy usually refers to the skin-as you get older or if you have had alot of sun in the past-the dermis (that is the layer below the top layer which is called the epidermis) gets thinner and the skin looks more wrinked. Muscles and fat can also get thinner -this is another form of atrophy. Even the top layer gets thinner ...Read more


Dr. Nikolaos Zacharias
467 doctors shared insights

Birth Defects (Definition)

Birth defects is a term for structural or functional abnormalities that a baby is be born with. These defects can be the result of genetic mutations or external insults to the developing fetus, such ...Read more