Brief Answer:
Muscular Dystrophy

Detailed Answer:
Good afternoon. My name is Dr. Saghafi and I am a neurologist in the XXXXXXX OH region of the world.

You didn't supply me with very many details so I hope the advice I give is relevant. Muscular dystrophy is a family of diseases which all have different genetic fingerprints if you will.

Therefore, to be most helpful and most specific you would either have to let me know the specific type of MD your sister has or you can tell me a little about the symptoms she is suffering with. In other words what is the distribution of her weakness? Does she have any other family members involved either upstream or downstream from her with something similar or perhaps someone has a different form of muscle weakness which is NOT thought to be MD.

I will give you a brief overview of Myotonic dystrophy which is the most common form of Muscular Dystrophies and from there you can decide whether or not that information may suffice for what you were looking for.

There are 2 forms of myotonic dystrophy. In both types the inheritance pattern is AUTOSOMAL DOMINANT. This says that the affected individual only needs 1 faulty gene from 1 of their parents in order to contract the illness. It also means that it is relatively easy to spot who in the family line prior to that individual may have passed on the gene.

In myotonic dystrophy there is also a phenomenon called ANTICIPATION which means that in general, each successive generation affected by the disorder should expect to see the illness at an earlier and earlier age. This is seen mostly in Myotonic Dystrophy Type 1 as opposed to Type 2. In fact, research is finding less support for anticipation in Type 2 than in the past so we are not entirely certain it runs that way.

At any rate, I hope this information is of some value and if so would appreciate your leaving a little written feedback as well as a STAR RATING. Also, if you don't have any further questions on this topic or comments that I can answer I would also appreciate it if you'd CLOSE THE QUERY on your end. This will signal to the network that I've done a satisfactory answering your questions and will allow them to process, archive and credit the interaction for future reference.

If you would like to contact me in the future with more medical questions of any type please use the following web address:

http://doctor.healthcaremagic.com/doctors/dr-dariush-saghafi/68474

This query required 55 minutes of physician specific time to review, research, and document in final draft form for envoy.

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