[Dysphagia] RE: Myotonic dystrophy

[DGregore at Christianacare.org (Gregore, Dale)]

the genetics in this family follows the MD course for the disease = onset
becomes earlier and severity increases
 
                            PATERNAL
MATERNAL
 
                            FATHER            adult onset
MOTHER            minimal MD w/ cataracts
 
                            SON (patient)    same version as father
BROTHER            same version as mother
                                                    sx started showing at
age 21                                             earlier onset
                                                    dxed at 44
 
                            DAUGHTER of patient   confirmed adult onset
???his children
                                                               age 24
 
                            grand daughter            cogenital MD
significant 
                                                                deficits
 
this patient has increased stiffness and low tone.  (+) decrease VP closure;
rapid speech rate with decreased articulatory precision d/t decreased
coordination/ precision/range of the articulators
 
re. the geniohyoid:  difficult to palpate this gentelman's neck, but will
try.  interesting, eh?
 
great articles and resources, Irene.  thanks.
 
dale

-----Original Message-----
From: Irene Campbell-Taylor [mailto:eripley@yahoo.com] 
Sent: Thursday, December 23, 2004 9:36 AM
To: Gregore, Dale; Dysphagia@b9.com
Subject: Myotonic dystrophy



 

 

This case is even more interesting than it first appears. Myotonic dystrophy
is an inherited disorder of varying types the most common being one in which
the voluntary muscles contract but have decreasing power to relax.but it
also affects involuntary muscles such as smooth muscle (G.I. tract muscle,
uterine muscle, etc.) and cardiac muscle. In this person, the problem
appears to be the reverse of that for voluntary muscle. However, the opening
of the UES as opposed to the relaxation is brought about mainly by
contraction of the geniohyoid,(voluntary muscle as per the Mendelson
manoeuver). Perhaps it is the failure of relaxation of the geniohyoid that
is causing the UES to remain open longer than normal. Is there any clinical
evidence of this e.g. palpation of the submental muscles during a swallow?
Or does he have the other type of dystrophy in which the muscles
increasingly fail to contract?

There is one report of a positive response in the GI tract to phenytoin - no
explanation of why this might work. Another reports good results with
metoclopramide although the side effects of the latter have to be carefully
monitored. See ff:


Eckardt VF; Nix W; Kraus W; Bohl J Esophageal motor function in patients
with muscular dystrophy. Gastroenterology 1986 Mar;90(3):628-35   

 


Patients with myotonic dystrophy exhibited a marked weakness of esophageal
contractions and upper esophageal sphincter pressure. Coordination of
sphincter relaxation and peristaltic sequences remained unaltered. These
changes led to delayed esophageal emptying in all patients with myotonic
dystrophy. Although esophageal function was also impaired in the distal
esophagus, on histologic studies, morphologic alterations were confined to
esophageal striated muscle in a single patient with myotonic dystrophy. In
contrast to the marked dysfunction of esophageal motility in patients with
myotonia, no such alterations were observed in the "nonmyotonic" form of
muscular dystrophy.

 

 

 

 

 


 

Swick HM; Werlin SL; Dodds WJ; Hogan WJ Pharyngoesophageal motor function in
patients with myotonic dystrophy. Ann Neurol 1981 Nov;10(5):454-7    


 

Six adults with myotonic dystrophy underwent detailed radiological and
manometric studies of pharyngoesophageal function. Four of the patients had
no history of swallowing dysfunction, while two had very mild symptoms. All
patients showed abnormalities of pharyngoesophageal function. Pharyngeal
peristalsis was present but of low amplitude. Resting upper esophageal
sphincter pressure was diminished, but the sphincter relaxed normally.
Peristalsis in the esophageal body was invariably absent in the striated
muscle segment of the esophagus and was either absent of decreased in
amplitude in the smooth muscle segment. The lower esophageal sphincter was
normal. Myotonia did not occur in the sphincters or the esophageal body.
These findings suggest that pharyngoesophageal dysfunction is common in
patients with myotonic dystrophy, even when clinical symptoms are absent.
The abnormalities are probably related to muscle weakness rather than to
myotonia in the pharyngeal and esophageal musculature.

 

 

 

 



"Gregore, Dale" <DGregore@Christianacare.org> wrote: 

A question for the listserv:

69 year old patient with a 27 year history of myotonic dystrophy. Was fully
PO/ with mild oropharyngeal dysphagia until reflux induced pneumonitis last
year. PEJ placed. Now with graduated PO intake without aspiration.

HOWEVER, I did a FEES on him recently and saw the most unusual UES: it was
open at rest! What a sight to see! It varied in size based on tone and
closed when the swallow was initiated. Whiteout preculded the rest until
post swallow and the uES was open again. My thoughts were that it
(circopharyngeus) tightened with the initiation of the swallow and relaxed
as the bolus passed. It then stayed relaxed.

Need less to say, he is a huge reflux risk. His LES is open at rest but he
is not a candidate for a fundaplication of the UES, per patient report.
Free flowing reflux.....

He strictly follows reflux precautions, but easliy has reflux in the upright
postion.

What options are available, if any for UES tightening, etc...... His
fatigue factor is a problem so he is continuing partial PO w/ PEJ primary
nutrition/ bolus feeds.

Ideas?

Thanks.

Dale Gregore


-----Original Message-----
From: Irene Campbell-Taylor [mailto:eripley@yahoo.com] 
Sent: Monday, June 21, 2004 1:16 PM
To: Dysphagia@b9.com
Subject: [Dysphagia] PPIs - At last!


After years of jumping up and down and yelling that PPIs do NOT treat GERD,
I am pleased to say that this appeared today:

Full article at:

http://www.medscape.com/viewarticle/480912_print

Complete Elimination of Reflux Symptoms Does not Guarantee Normalization of
Intraesophageal and Intragastric pH in Patients With Gastroesophageal Reflux
Disease (GERD)



David Milkes, M.D.; Lauren B. Gerson, M.D., M.S.; George Triadafilopoulos,
M.D. 

Am J Gastroenterol 99(6):991-996, 2004. 

Posted 06/17/2004 
Abstract and IntroductionAbstract
Background: Acid plays a significant role in the development of
gastroesophageal reflux symptoms, such as heartburn and regurgitation. It is
generally assumed that acid suppressive therapy improves or eliminates
symptoms by normalizing intraesophageal pH.
Aims: The aim of this article was to assess the efficacy of proton-pump
inhibitors (PPIs) in normalizing intraesophageal and intragastric pH in
patients with GERD without Barrett's esophagus (BE) rendered symptom free by
therapy.
Methods: Patients were evaluated by dual-sensor 24-h pH monitoring while
receiving PPI therapy for complete control of GERD symptoms. Analyses of
intraesophageal and intragastric pH profiles were then made.
Results: Fifty patients, 39 men and 11 women, with GERD, without BE, were
studied. All tolerated PPIs well and were asymptomatic at the time of the
study. Fifty percent of patients had abnormal intraesophageal pH profiles
despite adequate symptom control on PPIs, which was associated with
significant breakthrough of intraesophageal acid control in both the upright
and supine positions. Low intragastric pH correlated highly with
intraesophageal acid reflux only in patients with persistent abnormal
esophageal acid exposure (p = 0.001).
Conclusions: Fifty percent of patients with GERD without BE continue to
exhibit pathologic GERD and low intragastric pH despite PPI therapy that
achieves complete reflux symptom control.

[I suspect that the real number is higher than 50% but that alone is
significant- Irene]




Dr I Campbell-Taylor
Clinical Neuroscientist
Exclusive Distributor:
www.interactivetherapy.com
_______________________________________________
Dysphagia mailing list
Dysphagia@b9.com
http://lists.b9.com/mailman/listinfo/dysphagia




Dr I Campbell-Taylor
Clinical Neuroscientist
Exclusive Distributor:
www.interactivetherapy.com