I have retinitis pigmentosa. Now they say I have a form of bulbar palsy, possible ALS. Except one neuro, who thinks it's all genetic, maybe a form of a dystrophy. Should I see a genetic counselor, could there be genetic testing for any of this ? Family history is unknown other than ancestory of Scotch/Irish descent......adopted. Any advice would be appreciated, thanks.
That is a lot of things to deal with at once. Retinitis pigmentosa, as you well know, is the overactivity of the pigment cells in the eye which can block or damage the cells that make seeing possible. It is genetic. It can found as a symptom of many syndromes as well. A syndrome is a group of clinical findings that occur together. There are several rare syndromes that include retinitis pigmentosa and other symptoms that can look like a muscular dystrophy (muscle weakness). Some have testing available, and some do not. There is also the possibility that your two conditions are not related. Genetic testing is available for some forms of retinitis pigmentosa, ALS (amyotrophic lateral sclerosis), and muscular dystrophy.
To determine if any particular syndrome is responsible for what you are experiencing and if any testing is available, I recommend that you seek out a medical geneticist in your area. A medical geneticist can be found through the American College of Medical Genetics.
The Content on this Site is presented in a summary fashion, and is intended to be used for educational and entertainment purposes only. It is not intended to be and should not be interpreted as medical advice or a diagnosis of any health or fitness problem, condition or disease; or a recommendation for a specific test, doctor, care provider, procedure, treatment plan, product, or course of action. Med Help International, Inc. is not a medical or healthcare provider and your use of this Site does not create a doctor / patient relationship. We disclaim all responsibility for the professional qualifications and licensing of, and services provided by, any physician or other health providers posting on or otherwise referred to on this Site and/or any Third Party Site. Never disregard the medical advice of your physician or health professional, or delay in seeking such advice, because of something you read on this Site. We offer this Site AS IS and without any warranties. By using this Site you agree to the following Terms and Conditions. If you think you may have a medical emergency, call your physician or 911 immediately.