Doctor insights on:
When Is Marfan's Typically Diagnosed
Biopsy: Ductal carcinoma in situ (dcis) is initially seen on mammogram as a cluster of abnormal microscopic calcifications in the breast. A biopsy is then done to obtain a sample of the area of breast tissue in question. When the biopsy tissue is examined under a microscope it will definitively diagnose the dcis cells. ...Read moreSee 1 more doctor answer
Can ehler-Danlos cause painful muscle spasm? What age is someone typically diagnosed with Ehler-Danlos?
Indirectly, yes.: Ehler-Danlos syndrome is a genetic defect in the structure of collagen (or its building blocks). Collagen reenforces the connective tissue that provides strength and form to the soft tissues of our body. Abnormal collagen can cause weakness of muscles & joints, leaving them more prone to injury & pain. Milder cases are often overlooked until well into adolescence & beyond. Helpful? ...Read moreSee 2 more doctor answers
Yes and No, or Both: Every baby is born with some temperament, some personality. Part of everybody's mental state is inherited. The rest of it develops with age (the development is guided by both inherited and environmental factors). Nobody is born with a blank mental state, that is capable of developing into all types of personalities. Some aspects of every person are already predistined, but nobody knows how much. ...Read moreSee 1 more doctor answer
Variable/hard to say: There is much variability in life expectancy from time of diagnosis to time of death. Much has to do with the virulence of the disease process; the type of care received; the management of other, secondary medical complications. ...Read more
My father who is 62 years old is diagnosed with mild cerebral cortical atrophy after an MRI. What is its treatment and is it fatal.
Does aortic root dilation associated with Ehlers-Danlos syndrome usually develop in childhood? Or can it first show up in adulthood?
Unlikely: Although there are many different subtypes of Ehlers-Danlos syndrome, the overall incidence of aortic rd is less common than in Marfan's where it is thought to be about 80%. The attached paper looked at the hypermotile subtype of EDS and found onset usually before age 14 and this seemed to stabilize in adulthood. ...Read more
Is scolisis heritery or caused at birth my brother is diagnosed with it and my son is having simariler symptoms
It can be genetic.: Scoliosis--abnormal curvature of the spine--can be hereditary or it may develop from injury or infection. Obviously your son's pediatrician is the best resource to determine if this presumptive scoliosis is abnormal requiring orthopedic intervention. A pediatric orthopedist is also well qualified to answer your concerns. Call for an appointment soon. ...Read more
Yes: While uncommon people as young as 20 may have peripheral arterial disease, though this is usually the result of a number of vasculitidies such as takayasu's arteritis or berger's disease. More commonly pad is found in people over the age of 50, and quite prevalent in those over age 70. Smoking is the biggest risk factor in developing pad, conferring a 16x higher risk than a non-smoker. Don't smoke. ...Read moreSee 1 more doctor answer
Can menkes disease or syndrome show later in life? Can It unnoticed until adulthood? Is this possible? Are you always born with it?
Yes, Yes and Yes: Depending on the nature and degree of aberrant functioning of the gene ATP7A, responsible for copper transport and absorption, one can have classic Menkes disease in childhood, a variant now called Occipital Horn Disease in young adulthood or distal motor neuropathy in mid life. Most of the time the clinical picture does not vary within a family but sometimes it can. For a more detailed discussion of this very compl;ex matter, please schedule a virtual consult. Do consider chromosomal microarray testing and genetic counseling. This gene is X linked so the disease cannot be passed from the father but the gene can be passed to a daughter who will then pass it to her child 50% of the time.. ...Read more
Was born with congentital syphillis. Treated for it at age 2. I'm under 50, was diagnosed with bilateral maculopathy and low vision. What is this?
Stethoscope: It is usually first suspected when a doctor listens to your heart and hears a heart murmur. The characteristics of the murmur such as where on your chest it is heard would suggest mitral insufficiency. Then an echocardiogram would let the doctor see the structure of the valve. A doppler study would show that the flow across the valve is going in the wrong direction. ...Read moreSee 1 more doctor answer
Does a person have to be tall to be diagnosed with Marfan Syndrome? How often does it occur in average height or shorter people?
Recently diagnosed with SMA nutcracker syndrome. How likely is my being a small person a factor in that diagnosis?
See answer: Nutcracker syndrome refers to the compression of the left renal vein between the aorta and the superior mesenteric artery, which results in elevated left renal vein pressure causing abdominal/flank pain and blood in urine. Occurs more common in tall, thin, and slender females. Often misdiagnosed. There is also a condition known as sma syndrome which is a different and more serious condition. ...Read moreSee 1 more doctor answer
How long does a Down syndrome person usually live? Is that a problem since parents are usually old?
6 decades +: Years ago the expected lifespan for ds kids was short, due to a combination of heart defects, increased vulnerability to infection & lack of aggressive management. Today the projected lifespan exceeds 6 decades.Ds is a prime example of the need for survivor assistance planning. Various ds support groups, the "arc", social workers all help families integrate public & private support. ...Read more
Biopsy: Patients with lobular carcinoma in situ (lcis) typically do not have any symptoms and the abnormality cannot usually be seen on mammograms. It is usually diagnosed when a breast biopsy is performed for other reasons, such as an unrelated breast lump. The examination of the tissue by a pathologist under a microscope shows the abnormal cells found in lcis. ...Read moreSee 1 more doctor answer
Possible RA?: The combination u describe along with sex ; age makes me think of ra, especially if it is a very aggressive synovial reaction. 1 would expect some reaction, but if above what 1 would expect from the chondro, an evaluation 4 RA would b in order. Did ur surgeon take a biopsy? If so u will have the diagnosis if it is ra? ...Read more
Build a team: Marfan syndrome is a complex condition that requires a team of experts in genetics, ophthalmology, and cardiology to establish or exclude the diagnosis. A good place to start is with your primary care provider and with some help from the national marfan foundation. Their website has a section written especially for someone like you: http://www.Marfan.Org/marfan/2406/diagnosis#suspect. ...Read more
Very tall: The width is greater than the height--if so see your doctor ...Read more
Several features: Features suggestive of marfan syndrome include: above-average height, long arms, long fingers, flat feet, high-arched palate, narrow face, crowded teeth, small lower jaw, pectus carinatum (pigeon chest), pectus excavatum (sunken chest), hunchback (hunchback), scoliosis (crooked back), hypermobile/hyperflexible joints, etc... ...Read moreSee 1 more doctor answer
PFS can happen: Marfan syndrome patients can get aches and pains in many joints because of the looser ligaments trying to hold the joints together at rest and under physical stress. Patellofemoral syndrome is common in normal, active school-aged children, so it is hard to tell whether or not it occurs more often in marfan syndrome kids. ...Read moreSee 1 more doctor answer
Do those w/Marfans stop growing taller about same time as those w/o it? Or can U keep growing even after 30, 35, 40+ or start growing again yrs later?
The just do-: --they just grow faster than usual,& R the tallest in their age group. Also there R 3 grades of Marfan's, grade 1 R hyper-mobile in their joints and R usually small, not tall. ...Read more
Well...: From the Psychological point of view, there are no traits specific to marfans syndrome. Please read the following:http://www.childrenshospital.org/health-topics/conditions/marfan-syndrome ...Read more
See below: Marfan syndrome is a disorder of connective tissue, the tissue that strengthens the body's structures. Disorders of connective tissue affect the skeletal system, cardiovascular system, eyes, and skin. Vision problems should be treated when possible. Monitor for scoliosis, especially during the teenage years. Medicine to slow the heart rate may help prevent stress on the aorta. ...Read more
Good : With prompt opthalmologic intervention.Get a more detailed answer ›
My daugther is 7 year old n not to long ago i knew she got marfan's n i don't know what to do or waz going to happend im new on thiz..What is marfan's?
Marfan.org: The marfan foundation has a wonderful website at www.Marfan.Org. There is a lot of information there to help families understand living with marfan syndrome. There is also an annual family conference. The next annual family conference is in july 2014 in baltimore. ...Read moreSee 1 more doctor answer
- Talk to a doctor live online for free
- How is lumbago typically diagnosed?
- How is galactorrhea typically diagnosed?
- Are there any personality traits typically associated with with marfan syndrome?
- Ask a doctor a question free online
- How is lumbar radiculopathy typically diagnosed?
- How is renal artery disease typically diagnosed?
- How is a posterior cruciate ligament injury typically diagnosed?
- How is a sternoclavicular joint dislocation typically diagnosed?
- How is gerd typically diagnosed?