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Peroneal Muscular Atrophy Genetics Birth Defects
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 moreSee 1 more doctor answer
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
Yes: If they live long enough and have enough physical strength. This is a family of cruel diseases of widely variable severity. ...Read more
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
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
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
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
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
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 moreSee 1 more doctor answer
Diaphragm atrophy as a result of phrenic neuropathy (demyelination). U/s shows significant atrophy. What is time frame before resp. failure?
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
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
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
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