Where can I find information on carrier screening for spinal muscular atrophy?

Genetics counselor . Been thru this with my first daughter. I was fortunately not a carrier and my daughter is fine. Your local hospital should have a genetics counselor who can go over all the info available such as testing, results, and options.
I will post the link. National human genome research institute has a write up onthis http://www.Genome.Gov/27026048.

Related Questions

What does it mean if I'm a carrier of beta chain-related hemoglobinopathy and spinal muscular atrophy?

Carrier status. SMA is an autosomal recessive neuromuscular disease To be a carrier means you have one 5q deletion on chromosome 5. Beta chain hemoglobinopathy means you have an altered beta chain of hemoglobin as seen in diseases such as sickle cell. Carrier status means you do not have disease but have ability to pass it on to offspring who will have disease if other parent is carrier and passes it on as well. Read more...

I have spinal muscular atrophy 3, is there anything that causes sxs to progress after long periods of being stable and do all 3s loose ability to wal?

Disease course. In SMA type III, the later the onset of symptoms, the better the long-term prognosis. Individuals may be prone to respiratory infections but with care may have a normal lifespan. Keep up with your team of specialists including neurologist (neuromuscular focus), pulmonologist, PT, nutritionist, & orthopedist. http://www.ninds.nih.gov/disorders/sma/sma.htm. Read more...

I have spinal muscular atrophy. Is there any cure or anything I can do to improve my condition?

Perhaps. Spinal muscular atrophy is a hereditary condition which may plateau and not rapidly progress as one gets older. Physical therapists could design exercise program, and perhaps acupuncture could assist in the control of aching and fatigue. But all in all, no true cure, and symptomatic approache best way so far. Read more...

What is the life expectancy for people who have spinal muscular atrophy?

Depends. Some can live a normal life expectancy. A lot has to do with the care givers. Hope this helps. Read more...
Depends on subtype. Werdnig-hoffmann, maybe 2 yrs, chronic infantile, perhaps 20-30 yrs, and kugelberg-welander, full life span. Read more...

Does spinal muscular atrophy (sma) prevent children from speaking?

Yes. If they live long enough and have enough physical strength. This is a family of cruel diseases of widely variable severity. Read more...

A friend's child has been diagnosed with SMA (spinal muscular atrophy). Does this happen to be a mitochondrial disease?

Most are gene mutatn. There are many subtypes of spinal muscular atrophy.Gene mutations have been associated with specific chromasomes including the x, 5th, 11th, 12th& 20th. This defect is generally passed as an autosomal recessive or x linked disorder. Other forms are possible. Read more...
SMA. Sma is not a mitochondrial disease. It's a recessive gene on chromosome 5. Read more...

What is spinal muscular atrophy with respiratory distress?

Muscles need nerves. Our muscles need the nerves that supply them or they get weak and "atropy." if the breathing muscles get so weak, then one can not breath and will have respiratory distress where the body can not move air or get rid of air. Hope this helps! take care! Read more...
Serious disease. Spinal muscular atrophy is a group of inherited diseases that cause muscle damage and weakness which get worse over time. The most severe form starts in infancy. Milder forms can start in adolescence or adulthood. All types of sma cause weak muscles and difficulty breathing. It can be hard to take deep breaths and to cough effectively. This results in frequent infections and respiratory distress. Read more...

Waht can you tell me about spinal muscular atrophy?

Spinal cord & muscle. Spinal muscular atrophy (sma) refers to a group of disorders that affect the nerve cells (anterior horn cells) that connect from the spinal cord to the muscles. There are several types depending on whether the disease starts in infancy, childhood, or young adulthood. Some genetic causes are known. There is no cure and treatment is supportive. For more info: www.Smafoundation.Org & www.Fsma.Org. Read more...

Can you tell me the basics about spinal muscular atrophy?

See below. SMA is group of hereditary diseases that cause weakness and wasting of the voluntary muscles in the arms and legs of infants and children. Read more...