1 year 7 months w no diagnosis

[Ansley333]

I was born with a droopy eyelid.  I've had two surgeries on it.  I developed severe dysphagia 1 year and 7 months ago and have no diagnosis.  I have a lot of fatigue and anxiety and i'm very emotional.  My grandfather had a droopy eye, and so does my mother.  I desperately need a diagnosis for this.

[rugger14]

since you had it at birth it could be a developmental disorder of the levator muscle. The causes of it are unclear to me, but obviously the docs on here will hopefully have more info. Good luck with this! I know how it is to be a medical mystery (8 months so far) and it is very frustrating/depressing at times. hang in there!

[Ansley333]

Thank you for answering my post.  I am 34 years old.  I've been to the neurologists, ear nose throat, and gastro docs.  I've had an MRI, and numerous test done.  When this began a year and 7 months ago, this is when all of the tests were done.  I've really not had any since.  If this is a progressive disorder of some sort, should I be retested?  I'm extremely fatigued, and have severe anxiety.  My muscles seem to tire very easily.  I have palpitations at night mostly when I lay down.  Sometimes, I have a swaying back and forth feeling, and a lot.  I also feel like my neck and head are very tight, with a lot of pressure.  Most of the time, I feel like I should have a fever, but I don't.

[Christopher R Newey, DO]

Thanks for using the forum. I am happy to address your questions, and my answer will be based on the information you provided here. Please make sure you recognize that this forum is for educational purposes only, and it does not substitute for a formal office visit with a doctor.

Without the ability to examine and obtain a history, I can not tell you what the exact cause of the symptoms is. However I will try to provide you with some useful information.

Droopy eyelid at birth can be a result of several causes. One being genetics (autosomal dominant or recessive or mitochondrial traits), but others being syndromes such as myasthenia gravis or Horners. Myasthenia will usually have associated weakness/fatiguability and/or symptoms such as dyphagia, dysarthria, and/or double vision. Horners will have findings such as different pupil sizes (the smaller one being the abnormal pupil), decreased ability to sweat on the affected side of the face, and ptosis.

Dysphagia is a complicated process that includes symptoms of difficulty initiating swallowing, nasal regurgitation of liquids, frequent coughing/choking, and/or hoarse or wet cough after drinking fluids. The causes of dysphagia are too numerous to discuss here without more information. They can include anatomical causes secondary to trauma, infection, tumor, etc, or syndromes such as Parkinsons disease and Myasthenia to name a few.

I am not sure how old you are and other symptoms you may have. If you have not been evaluated by a neurologist, I would highly recommend this. An MRI of the brain would be very helpful to evaluate for any structural causes of your symptoms of ptosis and dysphagia. They may or may not be related.The neurologist, based on his/her examination, may want to add blood work that may include antibodies to acetylcholine receptors that may be seen in Myasthenia Gravis. Additionally, he/she may refer you to an ear, nose, throat specialist who may then perform a laryngoscope to evaluate your throat down to your vocal cords. You may also need to have a formal swallow evaluation to ensure that you are not aspirating on foods or liquids.

Thank you for this opportunity to answer your questions, I hope you find the information I have provided useful, good luck.

[Ansley333]

I've had my eye problem since birth, but this swallowing thing came out of the blue.  It has me and doctors stumped.