[Dysphagia] Congenital Myasthenic Syndrome

[sem at new-vis.com (Suzanne Morris)]

I will be working with a family whose 5 year old son has slow channel 
congenital myasthenic syndrome.   I have been reviewing records, 
videotapes etc. and have some questions about treatment approaches.   
He clearly shows some overall fatigue of both his body and mouth  as a  
mealtime progresses.  He is tasting a variety of foods but there is 
very poor bolus formation with food in his mouth that seems related 
primarily to poor intrinsic muscle activity in his tongue and very 
inactive cheeks.  He gets lip closure by moving his jaw and lower lip 
upward to the upper lip.  His tongue gets coated with food and he is 
very unsuccessful in clearing his mouth, even with a small sip of water 
from the straw.  He is fed by feeding tube with the exception of these 
small tasting-meals with the rest of the family prior to his tube 
feeding meals.  He swallows his saliva well and has never shown risk of 
aspiration on MBS exams.  There is a history of poor respiratory muscle 
function and he was on a oxygen through a trach until 2 years ago.  He 
has some intelligible speech ?mostly single words and 2-3 word phrases.

I know from reading that the etiology of this type of childhood 
myasthenia gravis is genetic and thus, different from the autoimmune 
issues seen in adult onset myasthenia.  Are the myasthenia issues 
overall similar in congenital versus acquired conditions?   Has anyone 
on the list worked with children with feeding issues who have this 
diagnosis?   What considerations in therapy do you give to the fatigue 
from the neural transmission problem?   With kids with the type of low 
tone that he shows with other etiologies I would typically use strong 
sensory input to activate the muscles of the tongue and lips/cheeks.   
He is spontaneously drawn to this type of input (according to his 
mother) for short periods.    Would it just increase the fatigue factor 
if deep pressure, vibration etc. were used as a therapy tool or in play 
to get better activation of the mouth?   What overall approach have you 
taken with these kids?  What has been the overall prognosis with 
therapy?

Thanks,
Suzanne

__________________________________
Suzanne Evans Morris, Ph.D.
Speech-Language Pathologist
New Visions
1124 Roberts Mountain Rd.
Faber, VA 22938
(434) 361-2285 ext. 5
www.new-vis.com