Question 1

what are the tests for sma?

Accepted Answer

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.

Question 2

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)

Accepted Answer

? anti dsDNA: You've probably already had these more basic tests: complete blood count, sedimentation rate, C-reactive protein, urinalysis &amp; 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 &amp; somewhat sensitive for lupus.All this needs to be correlated by your doc/specialist

Question 3

abd pain with eating. all gi tests normal.diagnosed with mals via aortagram. back blood flow in sma and celiac stenosis.  might surgery help?

Accepted Answer

MALS is: characterized by abdominal pain attributed to compression of the celiac artery and possibly the celiac ganglia by the median arcuate ligament. The abdominal pain may be related to meals, may be accompanied by weight loss, and may be associated with an abdominal bruit. Treatment is generally surgical.  Ref: https://en.wikipedia.org/wiki/Median_arcuate_ligament_syndrome

Question 4

i'm 55 and in 2020 i had start to use a method of self catheterizing to release urine. my bladder stopped working,in 2020 after an emergency surgery for sma blockage,a foley was placed. is there any test to see why or anything to correct my issue?

Accepted Answer

: It seems you have suffered neurogenic bladder after that catastrophic event. It has been three years so chance of recovery of bladder function is poor. However, you should see a urologist for a reevaluation. Good luck.

Question 5

how common is sma?

Accepted Answer

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

Question 6

what types of conditions can an sma -18 survey diagnose or suspect?

Accepted Answer

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.

Question 7

what are the genetics of sma?

Accepted Answer

Autosomal recessive: A defect in the smn1 gene is what is inherited. Someone has to get 2 copies of this defective gene (one from mom and one from dad) to have sma. If someone only has one copy of the defective-they are a carrier and can pass on that gene to their offspring.

Question 8

is sma type ii a congenital affliction?

Accepted Answer

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.

Question 9

how is sma diagnosed?

Accepted Answer

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.

Question 10

what are the different forms of sma?

Accepted Answer

SMA: Type one, type two, type 3 and type 4.

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Doctor answers about:

Sma 12 lab test

A member asked:

What are the tests for sma?

A member asked:

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)

A member asked:

Abd pain with eating. all gi tests normal.diagnosed with mals via aortagram. back blood flow in sma and celiac stenosis. might surgery help?

A member asked:

I'm 55 and in 2020 i had start to use a method of self catheterizing to release urine. my bladder stopped working,in 2020 after an emergency surgery for sma blockage,a foley was placed. is there any test to see why or anything to correct my issue?

A member asked:

How common is sma?

A member asked:

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

A member asked:

What are the genetics of sma?

A member asked:

Is sma type ii a congenital affliction?

A member asked:

How is sma diagnosed?

A member asked:

What are the different forms of sma?

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