if you could help please
i recently found out that my does not have ducheen md but he has alph-dystroglycan the doctor said it is a rare form of md, this is my sons doctor he has never held a case like this, he couldnt even tell me much about it i tried to look it up but all i found was that it is like walker warsburg, and cmd but i never found anything directly under what his is called if anyone could help i would be so greatfull. i have to know what my son has to deal with and its pretty scary when your on doctor cant tell you anything,he has to get a team of researchers together to find out how to handle this. if you can please help it would meen so much thank you the george family.
Replies to This Discussion
-
Permalink Reply by Tina on
-
Vicki
Email this research scientist. He can help you . His name is Dr. Eric Hoffman. His email address is: ehoffman@cnmcresearch.org
Explain to him your situation and ask him to explain your son's diagnosis to you.
Best of luck to you.
-
Permalink Reply by Melissa on
-
You may want to try this website: http://curecmd.org/types-of-cmd . Look under dystroglycanopathy congenital muscular dystrophy. There is some info on the disorder there. There are also links to yahoo groups so you can talk with people who are dealing with the same disorder. Hope this helps!
-
Permalink Reply by Char Burke on
-
Vicki - I have a book called Raising A Child with a Neuromuscular Disorder - A Guide For Parents, Grandparents, Friends and Professionals. It's by a neurologist by the name of Charlotte Thompson, MD. There is a section where she gives details by disease. I did find a section called alpha Sarcoglycanopathy - not sure if that's the same thing that you referred to above.
It is a type of Limb Girdle MD - and it is inherited - autosomal recessive with a gene coming from each parent.
The age of on set is early childhood
Gene loc. is 17q.12-q21.33.
The affected protein is alpha sarcoglycan, called 50kDAG (Dystrophin- associated glycoprotein)
The abnormality is absence of or decreased of alpha sarcoglycan.
Progression - extremely variable
Initial signs - enlargement of calves, and weakness in muscles close to body (proximal)
Lab findings - CPK (muscle enzyme that is measured) can be quite high
Muscle Biopsy - large fibers may be seen and splitting of fibers can also occur.
Initial signs - enlarged calves can be present, plus weakness in muscles close to body or proximal muscles.
Later - loss of ambulation can occur at age 12 as rapid progression of muscle weakness occurs.
Comments - Respiratory difficulties are not as prominent as DMD and heart involvement may not occur or just could be mild. The back should be checked for signs of scoliosis or curvature of the spine. Also, muscle contractures may develop. I would assume (this is me) that stretches would help - talk to PT
Treatment - daily exercise - like swimming, ongoing physical therapy.
Note - dr. says that pulmonary and cardio care can make a big difference as well as quality of life.
I would first google the name and see what you come up with. Check MDA.org site....Look for books on that specific MD. It may be rare but I think you can find info on it - esp. with computers now. Don't know if steroids would be an option or not - might slow disease...See if your doc. can recommend a neurologist. We go to Dr. Wong in Cincinnati....she is wonderful - our son has DMD.
Good luck. Char Burke
-
Permalink Reply by vicki george on
-
thank you so much i will be looking into that book, and i will talk to all our doctors about what you found thank you so much i will keep in touch let you know what we find out
Char Burke said:Vicki - I have a book called Raising A Child with a Neuromuscular Disorder - A Guide For Parents, Grandparents, Friends and Professionals. It's by a neurologist by the name of Charlotte Thompson, MD. There is a section where she gives details by disease. I did find a section called alpha Sarcoglycanopathy - not sure if that's the same thing that you referred to above.
It is a type of Limb Girdle MD - and it is inherited - autosomal recessive with a gene coming from each parent.
The age of on set is early childhood
Gene loc. is 17q.12-q21.33.
The affected protein is alpha sarcoglycan, called 50kDAG (Dystrophin- associated glycoprotein)
The abnormality is absence of or decreased of alpha sarcoglycan.
Progression - extremely variable
Initial signs - enlargement of calves, and weakness in muscles close to body (proximal)
Lab findings - CPK (muscle enzyme that is measured) can be quite high
Muscle Biopsy - large fibers may be seen and splitting of fibers can also occur.
Initial signs - enlarged calves can be present, plus weakness in muscles close to body or proximal muscles.
Later - loss of ambulation can occur at age 12 as rapid progression of muscle weakness occurs.
Comments - Respiratory difficulties are not as prominent as DMD and heart involvement may not occur or just could be mild. The back should be checked for signs of scoliosis or curvature of the spine. Also, muscle contractures may develop. I would assume (this is me) that stretches would help - talk to PT
Treatment - daily exercise - like swimming, ongoing physical therapy.
Note - dr. says that pulmonary and cardio care can make a big difference as well as quality of life.
I would first google the name and see what you come up with. Check MDA.org site....Look for books on that specific MD. It may be rare but I think you can find info on it - esp. with computers now. Don't know if steroids would be an option or not - might slow disease...See if your doc. can recommend a neurologist. We go to Dr. Wong in Cincinnati....she is wonderful - our son has DMD.
Good luck. Char Burke
-
Permalink Reply by CVita on
-
Vicki,
You have to be 100% certain if it's alpha-dystroglycanopathy or alpha-sarcoglycanopathy.
Alpha dystroglycanopathy is used to describe some Congenital Muscular Dystrophies (CMD)
Alpha sarcoglycanopathy is a form of Limb Girdle Muscular Dystropy (LGMD). This is what my son has. I know a great deal about it and can provide you with a lot of information.
USUALLY, CMD's present with symptoms at birth (floppiness, etc) or within the 1st year. If your son presented with symptoms later than that it is probably alpha sarcoglycanopathy
-
Permalink Reply by Donna Churchill on
-
Hi Vicki, I just wanted to encourage you while dealing with the Dr. that didn't know facts about your sons disease. This the same thing we went through when our grandson was diagnosed with DMD. His doctor said he knew nothing of the disease but would be sure to get up to par on it. And that is exactly what he did, as a family doctor he learned everything he could to help us deal with day to day things while also hooking us up to all the specialists Dykota would need. They all keep in very close contact. Don't be discouraged about his not knowing at this point. We were very lucky to have such a great doctor involved, I don't know if it's because we're in small communities here or not but he certainly has gone the distance for us. I pray that you have that same luck (for lack of a better word). Best of luck to you, Donna
-
Permalink Reply by Cheryl Markey on
-
One thing that is great is the Dr. did say he didn't know and did learn all he could, just like the base pedatrician we took our son to, he also admitted he didn't know about Duchenne MD, he was honest that he wasn't too fimiliar with neuromuscular diseases, but directed us to a Primary Care Dr. at the base hospital who just happened to have worked with pts. with neuromuscular diseases.......this is where people need to understand that just because a Dr, is a Dr. doesn't mean he knows everything out there under the sun. Having a honest Dr. telling you he doesn't know is better than having a Dr. that is dishonest and wants to be the big Dr. and not admit that he doesn't know and gives you a run around while trying to figure out what is wrong thus wasting precious and valueable time.
Cheryl
© 2021 Created by PPMD.
Powered by
Badges | Report an Issue | Privacy Policy | Terms of Service
