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Dr. Andrew Rynne
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Dr. Andrew Rynne

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Suggest treatment for muscular dystrophy and swollen genitals

Answered by
Dr.
Dr. Dariush Saghafi

Neurologist

Practicing since :1988

Answered : 2429 Questions

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Posted on Fri, 7 Aug 2015 in Bones, Muscles and Joints
Question: My brother is suffering for Muscular Distrophy and he is 43 years old. Recently he has been complaining of breathlessness if he lies flat on his back in sleeping position. So, he just sits on the bed and sleeps without lying down. Also he is unable to clear his bowels and does not pass urine unless we administer an enema or a drug to soften the stools and flush the urine. Also his genitals is swollen as attached the photo, although he says it does pain nor does he have any difficulty while urinating. Lastly, he says he is loosing appetite and not taking his regular intake of food. We are keeping him hydrated with enough liquids with glucose, B-Complex and Protein shakes. We have put him on a reclining back air bed to prevent any bedsores just in case. WE are aware of the limitations of his medical condition since it was diagnosed after his birth, but these are sudden developments in the last one month. Recently got him checked from our family physician and all his reports of ECG, BP and Urine are normal. What do you suggest we do further so that the situation does not go out of hand.
doctor
Answered by Dr. Dariush Saghafi 2 hours later
Brief Answer:
Needs to be followed by either neurologist or Neuromuscular specialist

Detailed Answer:
Good evening. My name is Dr. Saghafi and I am an adult neurologist from the U.S. I would like to share a few opinions on your brother's condition. You said that he is diagnosed with muscular dystrophy (MD) but didn't say exactly which type.

In my opinion it's very good you recently took him for a checkup, however, I think he really needs to be followed very closely by someone with specialty expertise such as a neurologist or even a Neuromuscular specialist who is commonly a subspecialty of neurology. Several things have remained unexplained by the family doctor even though all tests have come out normal.....

The breathlessness on the back is a possible sign of cardiac congestion with fluid overflow to the lungs....that needs to be looked at and remedied. Of course, making sure he's not flat is one way to do it, however, if he is developing congestive heart failure...it certainly wouldn't be unexpected since he has MD but he needs the proper tests for that. EKG is not going to tell us the information that an echocardiogram will in terms of ejection fractions, heart wall kinetics, so that's the first thing. Another reason for body swelling that you mention including scrotal/genital and other parts would be possible kidney deficiencies. Again, preliminary labs may state "normal" but there are other forms of evaluations that can better assess kidney or renal function which may be altered by the fact that you say he is having trouble clearing his bladder without some kind of extrinsic help.

Third thing is that bowels are not moving as well you say. I would avoid too much in the way of enemas. There is a notion that daily bowel movements somehow confer health on a person and that's not necessarily true. Even though his MD could be affecting the muscle of the GI tract....I would first consider something as simple as MOBILITY.....it sounds as if your brother doesn't really get the mobilization that he needs to be getting. This in and of itself could explain a number of issues that are going on.

Does he get in and out of bed on his own? Is he capable of some type of daily ambulation or at least rolling over in bed. He needs to move himself about as much as possible. You may need to hire an inhome physical therapist to begin the task of exercises of the arms, the legs, and the trunk. This could dramatically POSITIVELY AFFECT a number of things.

You also may want to get a nutritionist involved...not necessarily GI specialist at this point but rather a nutritionist. They will assess his dietary habits and protein levels since if those are low then, that could be another reason for his body swellings. He may benefit from protein and albumin assessment which could come from blood and urine testing. You didn't mention if he had urine tested for something simple such as an infection. How about the possibility of a pneumonia which is one of the more common pulmonary infections seen in MD patients which in large part goes to their immobility and also inability to clear secretions by forceful cough....do you know if there are problems there?

I hope this answer satisfactorily addresses your question. If so, may I ask your favor of a HIGH STAR RATING with some written feedback?

Also, if there are no other questions or comments, may I ask you CLOSE THE QUERY on your end so this question can be transacted and archived for further reference by colleagues as necessary?

Please direct more comments or inquiries to me in the future at:

bit.ly/drdariushsaghafi

I would be honored to answer you quickly and comprehensively.

Please keep me informed as to the outcome of your situation.
All the best.

The query has required a total of 42 minutes of physician specific time to read, research, and compile a return envoy to the patient.
Above answer was peer-reviewed by : Dr. Chakravarthy Mazumdar
doctor
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Follow up: Dr. Dariush Saghafi 26 minutes later
Thank you doctor for your reply. Below are the answers to few of the questions in your assessment which remain unanswered:

1. He is immobile and spends almost all of his time sitting on the air-bed except when he is lifted every morning and put on a wheel chair and pushed to the toilet. Employed a therapist who does his physical movements of his hands/legs followed by an oil massage every day.
2. We lift him with a portable crane as he weighs almost 80kgs.
3. Apart from his testicles he has developed a swelling on his feet/calf which is not subsiding for the last one month.
4. His cough is week and is not as forcefull as it used to be earlier
5. Done his routine urine test and showed no infection
5. Never explored the Pneumonia XXXXXXX as suggested by you
doctor
Answered by Dr. Dariush Saghafi 20 hours later
Brief Answer:
And that's one of my main points

Detailed Answer:
Because of his immobility due to his MD he has becomes swollen with lymphatic fluid which requires the action of muscles throughout the whole body in order to "press" it into the lymphatic vessels which are ultimately going to lead all that fluid back to the heart. Without the active action of these muscles all of this interstitial fluid that is within the tissues will just sit around and accumulate. Muscles act as the PUMP to move all of this fluid back from where it came.

Cough is weak because his MD is progressing.

Pneumonia is a very real danger for him due to his immobility.

He must become more XXXXXXX OR his therapist must do passive movement of his extremities frequently AND HEARTILY throughout the day. Oil massages are of no benefit to the situation but can keep the skin moistened.

I hope this answer satisfactorily addresses your question. If so, may I ask your favor of a HIGH STAR RATING with some written feedback?

Also, if there are no other questions or comments, may I ask you CLOSE THE QUERY on your end so this question can be transacted and archived for further reference by colleagues as necessary?

Please direct more comments or inquiries to me in the future at:

bit.ly/drdariushsaghafi

I would be honored to answer you quickly and comprehensively.

Please keep me informed as to the outcome of your situation.
All the best.

The query has required a total of 56 minutes of physician specific time to read, research, and compile a return envoy to the patient.
Above answer was peer-reviewed by : Dr. Chakravarthy Mazumdar
doctor
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