Doctor insights on:
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
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 moreSee 2 more doctor answers
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 moreSee 1 more doctor answer
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
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
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
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