Share this:
sandhkay
@sandhkay

Posts: 2
Joined: May 25, 2016

Distal Myopathy

Posted by @sandhkay, May 25, 2016

Anyone out there diagnosed with distal myopathy (DM)? There are many types of DM. I have been diagnosed with DM, it’s genetic, and the specific type I have is unknown (i.e. they don’t know which of my genes are defective). I have been told that it’s “slowly progressive.” I would like to communicate with others who have this condition. My hands and feet are getting weaker & arms and legs are painful. Exercising in a warm pool helps a lot and also mild yoga and stretching. I would like to know what helps you and how you are progressing.

REPLY

Welcome to Connect @sandhkay.
As you rightly noted, there are many types of DM. I’m trying to wade through this article to get a better understanding http://www.ncbi.nlm.nih.gov/books/NBK1466/

I’d like to introduce you to @gailfaith who just yesterday posted about Myotonic Dystrophy type 2. If I understand correctly, distal myopathy is a differential diagnosis of myotonic dystrophy, They are both progressive genetic disorders characterized by wasting (atrophy) and weakness of muscles. Correct?

Would you like to join Gail on this discussion thread? https://connect.mayoclinic.org/discussion/myotonic-dystrophy-type-2/

@colleenyoung

Welcome to Connect @sandhkay.
As you rightly noted, there are many types of DM. I’m trying to wade through this article to get a better understanding http://www.ncbi.nlm.nih.gov/books/NBK1466/

I’d like to introduce you to @gailfaith who just yesterday posted about Myotonic Dystrophy type 2. If I understand correctly, distal myopathy is a differential diagnosis of myotonic dystrophy, They are both progressive genetic disorders characterized by wasting (atrophy) and weakness of muscles. Correct?

Would you like to join Gail on this discussion thread? https://connect.mayoclinic.org/discussion/myotonic-dystrophy-type-2/

Jump to this post

Thanks for responding to my post! I don’t believe distal myopathy is a subcategory of myotonic dystrophy. There is no myotonia and onset is later in life. There are many subcategories of distal myopathy, and I don’t have a specific diagnosis as to which type because the defective gene hasn’t been identified, even though (my DNA) I’ve had full exome sequencing. I’ve had the good fortune to be evaluated by the expert on DM – Dr. Margherita Milone, at Mayo Clinic. I’m reading whatever I can (thanks for the links!) and hoping to come across someone else with distal myopathy – to hopefully provide mutual support and learn more.

Well @sandhkay, by starting this discussion I hope other people with distal myopathy will discover that they are not alone and will join in the conversation. To contribute to your reading list, have you seen this information from NORD? http://rarediseases.org/rare-diseases/distal-myopathy/

In the meantime, I hope that you and @gailfaith will still connect to share coping and living with strategies.

Liked by gailfaith

Hi @sandhkay. I believe that colleen has mentioned me to you. My name is Gail and my user name is @gailfaith. I have tried several times to connect with you, but each time I’ve had issues with the site. Hopefully this time I can get thru to you. So, sorry for the delay in getting back to you. I understand that you don’t think that my diagnosis (Dx) of Myotonic Dystrophy type 2 is related to your Dx. But I would be interested in learning more about your issues. My Dx was confirmed by biopsy at Mayo in 2013. However my symptoms started back in 2006, but none of the local neurologists could tell me anything except that I could never get better, only worse. Hence the trip to Mayo from eastern PA. And my symptoms were cause(/precipitated) by a doctor’s mistake when he accidentally gave me a “big” intraarticular shot of cortisone. I won’t go into the details in this note, but if you are interested I’d be more that happy to tell you about it. I say “precipitated” because with the genes already in my body, it became an issue when those genes were “activated”. Anyway hope to hear from you.

@gailfaith

Hi @sandhkay. I believe that colleen has mentioned me to you. My name is Gail and my user name is @gailfaith. I have tried several times to connect with you, but each time I’ve had issues with the site. Hopefully this time I can get thru to you. So, sorry for the delay in getting back to you. I understand that you don’t think that my diagnosis (Dx) of Myotonic Dystrophy type 2 is related to your Dx. But I would be interested in learning more about your issues. My Dx was confirmed by biopsy at Mayo in 2013. However my symptoms started back in 2006, but none of the local neurologists could tell me anything except that I could never get better, only worse. Hence the trip to Mayo from eastern PA. And my symptoms were cause(/precipitated) by a doctor’s mistake when he accidentally gave me a “big” intraarticular shot of cortisone. I won’t go into the details in this note, but if you are interested I’d be more that happy to tell you about it. I say “precipitated” because with the genes already in my body, it became an issue when those genes were “activated”. Anyway hope to hear from you.

Jump to this post

@ gailfaith What I find of interest in my case with myotonic dystrophy type 2 is that back in 1976, my back was bad and I had sciatica in my left leg and I was scheduled for surgery after they were to do a Myelogram. After the Myelogram, they canceled the surgery and I was in traction for about 10 days and out of work for 2 months. However, the myelogram precipitated myotonia (absolutely no weakness!) that started by the time I was discharged from the hospital in the big toe of my right foot and spread. I could feel it in my tongue as one doctor when he hit my tongue with a percussion hammer, my tongue curled in an unexpected direction, which I forget now which way that was…. (humped or curled?). Around 1977 sInce I in lived near NYC, I went to Columbia’s Neurological Institute where after a biopsy I was Dx with pseudomyotonia. “Pseudo”???? It was very real to me. Several years before 1983, I started technical rock climbing. Before the myotonia started to get better I could function almost normally and indeed I got my Air Transport Pilot’s license in 1977 and no one knew that I had myotonia at that time as I could do everything, but just a little bit slower. Sometime before 2010 I realized I could no longer demonstrate the myotonia. The last place I could demonstrate it was again in the big toe of my right foot! Then in 2006 following the administration of cortisone previously mentioned, I developed generalized weakness and MD2 was Dx at Mayo in 2013. The weakness now appears to be limited to my lower limbs. So it seems that the two entities don’t have to appear simultaneously……at least in me! Maybe back in 1977 they had never encountered MD2? Something I never realized until just now….I wonder if the myotonia can/will ever return?

Please login or register to post a reply.