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Doctor insights on: Peroneal Muscular Atrophy Genetics Birth Defects

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How do gene defects cause different forms of muscular dystrophy? 

How do gene defects cause different forms of muscular dystrophy? 

Coding: Like the order of letters in a word can spell and mean something different, so too can the order and type of genes cause a particular disease presentation. When someone has genes for muscular dystrophy, it depends on how strong those genes are and what they code for that determines what form of dystrophy they will have. ...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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Does spinal muscular atrophy (sma) prevent children from speaking?

Does spinal muscular atrophy (sma) prevent children from speaking?

Yes: If they live long enough and have enough physical strength. This is a family of cruel diseases of widely variable severity. ...Read more

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3 m/o w/unilateral renal agenesis, bilat syndactyly of toes 3-4, seizures, failure to thrive, no muscle tone, low ears, heterotopia. Not SLOS. ideas?

3 m/o w/unilateral renal agenesis, bilat syndactyly of toes 3-4, seizures, failure to thrive, no muscle tone, low ears, heterotopia. Not SLOS. ideas?

What did the : Chromosomal Microarray reveal ? This is a baby for whom a team of "medical home " pediatrician, pediatric neurologist, geneticist, developmental/behavioral pediatrician, audiologist, pediatric ophthalmologist Early Intervention therapists & a medical social worker/case manager & more is needed to assure funding, services, & family support for accurate diagnosis & management. ...Read more

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Do amniotic sac disorders cause birth defects?

Do amniotic sac disorders cause birth defects?

Amniotic Fluid: Best discussed with your ob. Too much or too little amniotic fluid is associated with abnormalities in development and pregnancy complications. Differences in the amount of fluid may be the cause or the result of the problem. ...Read more

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Could cerebral palsy affect growth and development?

Could cerebral palsy affect growth and development?

Yes: Because of the wide variation in this process the outcome varies.Cp can be so mile it is unrecognised in a persons lifetime and exists in very subtle findings on a neurological exam. Some is so pronounced, the patient may remain infantile in his/her communication, mobility and self help skills through life. Physical growth tends to vary with the intensity of the disorder. ...Read more

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What is the genetic inheritance of duchenne muscular dystrophy?

What is the genetic inheritance of  duchenne muscular dystrophy?

X linked: The gene for the abnormal protein is located on the x chromosome. Hence it is "x linked" . Mostly boys are affected. ...Read more

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What are the chromosome defects affecting chromosome 10, 13 and trisomy 21?

What are the chromosome defects affecting chromosome 10, 13 and trisomy 21?

Many: There are numerous disorders that can happen with abnormalities of chromosomes 10 and 13. Too many to list here. Trisomy 21 means the person has an extra chromosome 21 and this is more commonly known as Down's syndrome. There are many possible phenotypic findings with this disorder, again too many to list here including physical characteristics, heart , hearing, vision, skeletal, developmental.... ...Read more

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Is cerebral palsy a usual birth defect caused by in utero stroke?

Possible: It is possible that cerebral palsy may be related to in utero cerebral infarct (stroke) - but there are many causes of cerebral palsy. Here is an article which may be helpful to describe causes of cerebral palsy: http://www.Webmd.Com/brain/understanding-cerebral-palsy-basic-information. ...Read more

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What percent of DVT are travel related? Surgery related? Genetic defect related? And spontanious?

What  percent of DVT are travel related? Surgery related? Genetic defect related? And spontanious?

That is very : variable as it depends on age, whether obese, prior history, hydration status, type of surgery etc ...Read more

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Are cerebral palsy, osteogenesis imperfecta or downs syndrome passed on to your children?

Are cerebral palsy, osteogenesis imperfecta or downs syndrome passed on to your children?

No,no,maybe: CP is an injury to the developing nervous system,it is not inherited. There are several forms of Osteogenisis imperfecta and their inherance varies.some do not survive infancy, some require an OI gene from both parents.Down syndrome males are usually sterile, females can reproduce and just under 50% of their babies would be DS. ...Read more

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How often are an obstetric brachial plexus injury ( erbs palsy ) permanent?

How often are an obstetric brachial plexus injury ( erbs palsy ) permanent?

0.5-1.6%.: Overall incidence of congenital permanent brachial plexus injury is 0.04-0.2% of us live births. If you have shoulder dystocia, permanent injury to the brachial plexus is anticipated in 0.5-1.6% of cases. ...Read more

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What is spinal muscular atrophy type 1?

What is spinal muscular atrophy type 1?

SMA type 1: Rare genetic form where prognosis is poor & life expectancy less than 2 years of age. ...Read more

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4yo has severe laryngomalacia, sleep apnea, aspirates, history of hypotonia & gross motor delay, MTHFR, midline defects, SPD, possible autism. Causes?

4yo has severe laryngomalacia, sleep apnea, aspirates, history of hypotonia & gross motor delay, MTHFR, midline defects, SPD, possible autism. Causes?

Mgt, workup: The severe laryngomalacia can cause and contribute to sleep apnea and aspiration. I would suggest an evaluation by ENT and a sleep study to evaluate the need for CPAP. Speech and development can help with coordination/swallowing mechanisms. A virtual appointment: healthtap.com/DosanjhMD Code: NCYHPZ ...Read more

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Can disc bulge at l5-s1 cause atrophy of calf muscle?

Can disc bulge at l5-s1 cause atrophy of calf muscle?

Yes: In a young person like yourself, you might want to get a neurosurgery consult. Atrophy of muscle due to a disc bulge is an indication for surgery. Pain from a disc can be treated with medication and physical therapy in many cases; muscle atrophy or loss of function cannot. ...Read more

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How can one differentiate between duchenne muscular dystrophy and spinal muscular atrophy?

Diagnostics: Muscle biopsy or EMG will be able to differentiate. Presenting symptoms may lead one to be suspected more than the other as well. ...Read more

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Occult spina bifida, high arches and palate, pectus, tall, spont retinal tear. What does all this mean genetically?

Occult spina bifida, high arches and palate, pectus, tall, spont retinal tear. What does all this mean genetically?

Possibility: I'm not quite sure what you're asking, but you can glean some information from: www.cdc.gov/ncbddd/spinabifida/facts.html I hope this helps you. ...Read more

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I've had two possible TIAs-MRI/A say-xanthoma formation w/in choroid plexus bilaterally-fetal origin right posterior cerebral arterycongenitalvarition?

I've had two possible TIAs-MRI/A say-xanthoma formation w/in choroid plexus bilaterally-fetal origin right posterior cerebral arterycongenitalvarition?

Normal variation: Fetal origin posterior cerebral artery is a normal finding you were born with and choroid plexus comments is also normal. I presume the MRI was otherwise normal. Please make sure to see a neurologist for a complete evaluation as TIAs are often warning signs for strokes. ...Read more

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Why isn't congenital optic atrophy optical nerve not developed?

Why isn't congenital optic atrophy optical nerve not developed?

Most idiopathic: Most cases do not have a cause. Some cases are associated with CNS (brain problems such as genetic or idiopathic causes), some are genetic such as leber's disease and rarely can be due to maternal diabetes and drug use. ...Read more

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How come duchenne muscular dystrophy considered a genetic disorder?

Mutated gene in X : Duchenne muscular dystrophy is caused by an abnormal gene in x chromosome, and is inherited as an x-linked recessive trait. ...Read more

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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
841 doctors shared insights

Congenital Abnormalities (Definition)

Abnormalites that are present at birth. Also known as birth defects. For example- cleft palate is a congenital abnormalities. Another example congenital heart disease is the presence of a ...Read more