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Doctor insights on: Medicine For Sma

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Dan Tse Dr. Tse
4 doctors agreed:
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How common is sma?  

Dan Tse Dr. Tse
4 doctors agreed:
How common is sma?  

1:6000 live births: Sma, or spinal muscular atropy is the second most frequent autosomal recessive disease, 1:6000 live born births. ...Read more

Dan Tse
36 Doctors shared insights

Sma (Definition)

Spinal muscular atrophy (SMA) ...Read more


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How is SMA diagnosed?

How is SMA diagnosed?

See below: (spinal muscular atrophy) defining signs and symptoms are the first clue. To confirm diagnosis, a genetic test is done. If that is negative but the physician still things SMA is the cause of the patient's symptoms, an electromyography, enzyme creatnine kinase, and nerve conduction studies can be done. ...Read more

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Can you die from sma?

Can you die from sma?

Depends: Sma type 1, also known as infantile spinal muscular atrophy or werdnig-hoffmann disease, is the most common and severe type of sma. It typically presents in the neonatal period. Majority of affected infants die within a year from respiratory failure. Type 2, 3, and 4 present at a later ages and are milder forms. ...Read more

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What are the tests for sma?

What are the tests for sma?

Different: Spinal muscular atrophy is diagnosed by genetic testing, muscle biopsy, electromyography (electrical muscle test). Superior mesenteric artery syndrome is diagnosed by x-rays, ultrasound, arteriography, ct scans. ...Read more

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What are the symptoms of sma?  

What are the symptoms of sma?  

Symptoms SMA: Areflexia, particularly in extremities
overall muscle weakness, poor muscle tone, limpness or a tendency to flop (the "floppy baby" syndrome)
difficulty achieving developmental milestones, difficulty sitting/standing/walking
in infants: adopting of a frog-leg position when sitting (hips abducted and knees flexed)
loss of strength of the pulmonary muscles: weak cough, weak cry. ...Read more

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What is SMA Syndrome & can it be hereditary?

CongenitalTraumautic: Chronic - present from birth is congenital - either hereditary or a problem during gestation. Acute is a result of trauma. It's a rare, life-threatening gastro-vascular disorder. Complicated. Here's Wiki on it: https://en. Wikipedia. Org/wiki/SMA_syndrome

Ask you provider if you need help with it. Best! ...Read more

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How are patients with SMA cared for?

How are patients with SMA cared for?

SMA: Spinal muscular atrophy is a rare genetic disease affecting a protein in the spinal cord, leading to nerve death and muscular weakening and shrinkage. Caring for patients depends on the damage done and specific needs. Check the article in wikipedia for general information, and check with you physician for specific specialty referrals as needed. ...Read more

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What are the genetics of sma?

What are the genetics of sma?

More than one type: Spinal muscular atrophy of infants, before the gene was identified, was called Werdnig-Hoffman disease. Pitiful-we always looked at the tongues of floppy babies hoping it wasn't fasciculating. No treatment, breathing muscles progressively weakened, resulting in suffocation. 1 chance in 4 of recurrence-maybe. 2% were new mutations. Kugleberg-Weilander disease had onset after 12 mo. Now 10 forms. ...Read more

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What types of conditions can an SMA -18 survey diagnose or suspect?

Chemical profile: As a screening tool, it has proved most valuable in picking up ongoing liver damage (meds, alcohol, hepatitis, iron, wilson's, metabolic syndrome), cholesterol trouble, hyperparathyroidism, diabetes, and kidney troubles. It's the main way we find these. ...Read more

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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 more

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Is SMA type II a congenital affliction?

Yes: Spinal muscular atrophy (sma) is caused by a mutation in the survival motor neuron gene 1 (smn1). Most of the time, parents are unaffected and the mutation newly appears in the affected child. ...Read more

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What is the lifespan of a child with SMA type 2?

What is the lifespan of a child with SMA type 2?

Depends: Sma ii usually appears between 6-18 months. Progression varies widely in this type of SMA with some patients falling to respiratory failure/pneumonia as children, while others can lead a full life into adulthood. ...Read more

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I was recently diagnosed with SMA 3, but I don't know if sxs I'm having are real or if I'm just being nervous. I don't want to bother my Dr with every little thing I feel. For example, I'm always tired?

SMA 3: Likley a result of the disease. You are deficient in a protein which affects nerves and so activity requires more effort/energy.

smasupport. Com is a website for individuals with SMA. As is www. Curesma. Org ...Read more

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How can I find a doctor who specializes in sma?

How can I find a doctor who specializes in sma?

Check this website: There is a list posted at
http://www. Fightsma. Org/sma-guidebook/spinal-muscular-atrophy-doctors/. ...Read more

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I have SMA type 3 and steal rods in my spine I am 20 and thinking about children would this be safe and if so would my child have sma?

Varies: The prognosis for a person with type three spinal muscular atrophy varies tremendously and so you should probably have a good conversation with your treating physician. They may want to get the input of a pulmonologist as well. Thank you for your question. ...Read more

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What does SMA 7 mean. I'm going for a tummy tuck on August 19?

Labs: SMA is old abbreviation for "sequential multiple analysis"; what we now generally refer to as a BMP or "basic metabolic panel". It is a series of lab tests your doctor often orders before a surgery checking on such important electrolytes as your sodium, potassium, chloride, bicarb, glucose, blood urea nitrogen and creatinine levels. The "7" designation is the number of chemicals checked. ...Read more

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Is SMA, (child version of ALS), rare? Statistics? Likelihood of it happening in a 3 yr old child?

Is SMA, (child version of ALS), rare? Statistics? Likelihood of it happening in a 3 yr old child?

Rare/ not ALS: The Spinal muscular atrophy types (1-4) arise from an inherited lack of a material that protects the motor neuron. The type 3 (onset after age 1yr) has an estimated gene prevalence of of 1/375, 000 in the population and incidence of 1-6/1, 000, 000 births. You need a defective gene from both parents to inherit this condition. Though weakness is common to ALS/SMA they are not related. ...Read more

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I'm pregnant I'm came positive for SMA disease this is my second pregnancy my first child is healthy should I worried for that?

I'm pregnant I'm came positive for SMA disease this is my second pregnancy my first child is healthy should I worried for that?

SMA or spinal: Muscular atrophy is a genetic disease affecting the part of the nervous system that controls voluntary muscle movement. SMA is an autosomal recessive disease. I presume you mean that you learned you are a carrier; we need to know the genetic status of your partner. If he is also a carrier, then each child has a 25% chance of having the disease; 75% healthy. The number of pregnancies has no effect. ...Read more

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If you have atherosclerosis in the infrarenal aorta and the SMA should you have testing to see if you have it in other major arteies?

Artery Disease: Artery disease is driven by nicotine addiction, hypertension, diabetes, hyperlipidemia and family history. If you have artery disease in one location (infrarenal aorta), there is 70% chance you have it in other arteries. Nicotine cessation is single best long term therapy. Aspirin daily. A carotid ultrasound to assess for stroke risk is helpful. Check in with your local vascular doc. ...Read more

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Hello, my son is 18months old and was diagnosed 1 year ago with SMA type1. He is on a BiPAP machine 90% of the day. How can we strengthen his lungs?

Hello, my son is 18months old and was diagnosed 1 year ago with SMA type1. He is on a BiPAP machine 90% of the day. How can we strengthen his lungs?

A difficult process: I would cherish the time you have, as each day is precious. I cannot offer any special tricks to change what is happening. Try to locate a support group for parents of kids with chronic illness. It can help you work through what you are facing. ...Read more

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I have SMA type 2. I weigh 47lb and am about 4 feet tall because of the disease. Can't eat a lot. What do I do to gain weight quick? (I'm not anorexic

Treatment for SMA II: At this time, there is nothing yet available. A drug designed to stop nerve deterioration resulting in muscle wasting has just finished Stage II trials, and proved effective in markedly arresting progression by protecting nerves called Olesoxime. Keep in touch with the MDA; other promising trials are underway. ...Read more

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How long can someone live with type 1 SMA (spinal muscular atrophy)?

How long can someone live with type 1 SMA (spinal muscular atrophy)?

Years: Although we used to see these children pass away within the first 1-2 years of life, now with good handwashing, treatment of infection, and machine ventilation, lifespan has increased. ...Read more

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How much time can a child live with type one SMA (spinal muscular atrophy)?

Not too long: Most children with type one SMA unfortunately develop severe muscle weakness that reflects on their ability to breath effectively and would pass away within few months of life unless they get on long term mechanical ventilation. Such a treatment is generally not recommended as it would prolong suffering with no improvement in the muscle function. ...Read more

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How long can a child live successfully with type one SMA (spinal muscular atrophy)?

How long can a child live successfully with type one SMA (spinal muscular atrophy)?

Depends on type: Prognosis is poor for infants with SMA type i. Most die w/in the 1st 2 years. Sma type ii: prognosis for life expectancy or independent standing/walking roughly correlates with how old they are when they first begin to experience sx's - older children tend to have less severe symptoms life expectancy is reduced with survivers in young adulthood. Type iii prone to resp. Infections-nml life span. ...Read more

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Other than als, pls, sma, and guillain barre syndrome, are there other causes of anterior horn cell death?

Other than als, pls, sma, and guillain barre syndrome, are there other causes of anterior horn cell death?

Not correct: Guillain-Barré syndrome is not caused by anterior horn cell death. Its other name is acute inflammatory demyelinating polyneuropathy or AIDP. If it were a motor neuron disease, you'd never get better, and most people do. ...Read more

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At 12 I had surgery for congenital malrotation, at 21 I was diagnosed with SMA syndrome is it possible to have both illnesses?

Yes: Sma syndrome is due to the superior mess enteric artery (sma) impinging on the intestine. Can happen with rapid weight loss, or with anatomic abnormalities involving the bowel and vessels. ...Read more

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What is SMA (spinal muscular atrophy)? Is it treatable?

SMA: Genetic disorder affecting control of muscle movement, caused by loss of motor neurons in brain stem & spinal cord, leading to weakness & wasting of muscles used for activities such as crawling or walking. Treatment is palliative. ...Read more

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My 9 month old keep being sick even with med and is now loosing weight my doctor say the SMA high energy no matter what should gain weight?

My 9 month old keep being sick even with med and is now loosing weight my doctor say the SMA high energy no matter what should gain weight?

SICKNESS / WT. LOSS:: You didn't mention what sickness and what med your child is on. Chronic ill health is a cause of poor weight gain. Make sure the child gets a balanced diet. Talk to the infant's pediatrician in detail, look at the growth chart, follow the advise of the doctor if you trust him/her. ...Read more

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Dear doctor lever function test as per the following normal: ast: 19 2nd test alt: 34 in the SMA eday I made in it was ALT alt 41.5 1st test?

Dear doctor lever function test as per the following normal: ast: 19 2nd test alt: 34 in the SMA eday I made in it was ALT alt 41.5 1st test?

Life is not exact...: Life is not exact, and neither are labs. The doctor can choose which values to believe, can average the values, and/or send the patient back to the lab for a repeat test. Lab results are just numbers; the doctor will decide what the numbers mean. ...Read more

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If I have a high positive ANA (1:640) speckled, nucleolar and low positive SMA (1:40), what further tests do I need to do? (Negative SS-A, SS-B, Smith, RNP, SCL-70, Anti Jo Abs)

If I have a high positive ANA (1:640) speckled, nucleolar and low positive SMA (1:40), what further tests do I need to do? (Negative SS-A, SS-B, Smith, RNP, SCL-70, Anti Jo Abs)

? anti dsDNA: You've probably already had these more basic tests: complete blood count, sedimentation rate, C-reactive protein, urinalysis & rheumatoid factor. It appears to me that the ANA results with slight positive anti-Smith may suggest lupus; you need an antibody to double-stranded DNA (anti dsDNA) which is very specific & somewhat sensitive for lupus. All this needs to be correlated by your doc/specialist ...Read more

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I had median arcuate ligament release 3 months ago. The celiacy artery velocities went down immediately after surgery & symptoms improve. 3 months later velocities are just as high (350s), SMA velocities are high, and symptoms returning. Next step?

I had median arcuate ligament release 3 months ago. The celiacy artery velocities went down immediately after surgery & symptoms improve. 3 months later velocities are just as high (350s), SMA velocities are high, and symptoms returning. Next step?

Please see your dr..: For your current symptoms and profile, it is your best interest to collect all related symptoms and questions to meet your doctor (surgeon) ASAP for a timely evaluation since on one online knows more about you than her/him. To get all related things for good care done correctly, follow instructions in https://ebettercare. Com/feel-become-sick/. Thereby you gain insight on how to work well with dr. ...Read more

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Child's penis and testicle not growing? My son is 9 years old and large for his age (in height and weight) but I am concerned bc it seems as if his penis and testicles are not growing. I realize that he has not hit puberty yet, but they seem unusually sma

Child's penis and testicle not growing? My son is 9 years old and large for his age (in height and weight) but I am concerned bc it seems as if his penis and testicles are not growing. I realize that he has not hit puberty yet, but they seem unusually sma

It: It is not unusual for a child's penis and testicles to appear smaller than "normal" at this age, especially if he is a large child (they can look relatively smaller). As long as the testicles are descended and palpably normal, there is no cause for alarm. As he goes through puberty in the next few years, he will hopefully thin out a bit, and the genitalia will also grow appropriately. That being said, sometimes a visit to a specialist can be reassuring to a child (and you!), since puberty might be a couple of years away. ...Read more