Genetic testing is usually carried out using a blood sample, and MLPA is one of more frequently used genetic testing techniques, as it also allows establishing the number of SMN2 gene copies, which has clinical importance.Symptomatically, SMA can be diagnosed with a degree of certainty only in children with the acute form who manifest a progressive illness with paradoxical breathing, bilateral low muscle tone and absent tendon reflexes. Early diagnosis
Early diagnosis of SMA, at the asymptomatic stage of the disease, allows for

Preimplantation testing
Preimplantation genetic diagnosis can be used to screen for SMA-affected embryos during in-vitro fertilisation. Prenatal testing
Prenatal testing for SMA is possible through chorionic villus sampling, cell-free fetal DNA analysis and other methods. Newborn screening
Routine newborn screening for SMA is becoming increasingly commonplace in developed countries, given the availability of causative treatments that are most effective at the asymptomatic stage of the disease. In 2018, newborn screening for SMA was added to the US list of recommended newborn screening tests and as of April 2020 it has been adopted in 39 US states. As of May 2021, SMA newborn screening has been implemented in Taiwan and is in the course of implementation in Australia, Belgium, Canada, France, Germany, Netherlands, Poland, Serbia and Slovenia. Additionally, pilot projects are being conducted in Australia, China, Italy, and Japan. Carrier testing
Those at risk of being carriers of SMN1 deletion, and thus at risk of having offspring affected by SMA, can undergo carrier analysis using a blood or saliva sample.
Extravasation of urine refers to the condition where an interruption of the urethra leads to a collection of urine in other cavities, such as the scrotum or the penis in males. It can be associated with a calculus. Mechanism
An injury to the urethra leaving Bucks fascia intact results in a collection of urine (extravasation) limited to the penis, deep to Bucks fascia. However, if the injury to the bulb of the penis results in urethral injury accompanying a tear of the Bucks fascia, then extravasated blood and urine would accumulate in the superficial perineal space, passing into the penis (outer to Bucks fascia) as well as the scrotum and lower anterior abdominal wall. Extravasation of urine involving a compromised Bucks fascia can be appreciated clinically by blood collecting in the superficial pouch, resulting in a butterfly-shaped region around the penis. Urinoma
Long term complications of renal trauma, ureteral obstruction, or kidney transplant can lead to the formation of an urinoma encapsulating extravasated urine. References


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