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1 in every 40 people, or nearly 10 million Americans, UNKNOWINGLY carries the gene responsible for SMA. There is currently no treatment and no cure, but the National Institutes of Health (NIH) selected SMA as the disease closest to treatment of more than 600 neurological disorders.
The American College of Medical Genetics recommends that SMA carrier testing be made available to ALL couples planning a family, regardless of ethnicity or family history. When you or a loved one is faced with a genetic disease it can be overwhelming, confusing and scary. Mount Sinai offers a pan-ethnic genetic testing panel that screens for 281 genetic diseases. If you're thinking of having children or have a family history of disease, genetic testing can provide vital information. Your support can lead to remarkable gene discoveries and treatments that fight against genetic diseases. While these diseases occur in all ethnic groups, some of them are far more common in certain populations than in others. The Mount Sinai Comprehensive Jewish Carrier Screening Panel covers 96 conditions that fall into this category. Most babies with SMA are born after a normal pregnancy, are seemingly healthy, and pass all current newborn screenings.


To find out more information on a specific disease, including carrier frequencies, click on its name below. Some disorders are specific to one of the 3 sub-populations; however, there are certain diseases that are relevant to all Jewish sub-groups.
SMA is a terminal and degenerative disease that causes weakness and wasting of the voluntary muscles in infants and children. Please consult with a physician or with a genetic counselor for guidance on genetic screening and testing for proper diagnosis and treatment. Because these disorders are inherited in an autosomal recessive or X-linked manner, if you are of Jewish descent you may be at risk for being a carrier for a genetic disorder without even knowing it.
Specifically, the disease is caused by an abnormal or missing gene known as the survival motor neuron gene (SMN1), which is responsible for the production of a protein essential to motor neurons.
As the motor neuron network breaks down, the ability of the brain to control muscles diminishes and with less control and use, muscles weaken and waste away. Simply, SMA eventually impacts every muscle in the body hindering the ability to walk, sit, stand, eat, breathe, and swallow. The mind always remains unaffected and children with SMA are bright, sensitive, and playful in spite of their failing bodies.
The one healthy SMN1 gene is more than sufficient to direct the production of SMN protein in carriers.


It is this last 25%, where the child is passed two defective, mutated SMN1 genes, in which the active form of SMA occurs and the child is left without the functioning SMN1 gene that is responsible for the production of a protein essential to motor neurons. SMA can be diagnosed through a simple blood test that screens for deletion of the gene called survival motor neuron, SMN1 (see graphic below).Are there different Types? In general, there are four types associated with the group of diseases known as SMA: Type I, II, III, and IV. For Type II children the prognosis for life expectancy ranges from early childhood to early adulthood.
Type III and Type IV typically live into adulthood and some Type IV’s can have a close to normal life expectancy. All Types experience muscle degeneration, but at varying speeds and severity with Type I progressing the most rapidly. Research and the potential for both a viable treatment and even a cure is promising, but there is currently nothing to stop SMA from progressing.



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