Abstract Details

Title Congenital and Juvenile Myotonic Dystrophy

Topic Muscle Disease/Neuromuscular Junction

Presentation(s) (-)

Poster/Presentation
Number 010

Objective

Background Myotonic dystrophy (DM) is an autosomal dominant, multisystem disorder associated with two loci, DM1 and DM2. DM1 is caused by a CTG trinucleotide repeat expansion in the noncoding portion of the DMPK gene, located on chromosome 19q13.3. DM1can occur as congenital, juvenile onset, early adult and late adult onset. The symptoms may include facial weakness, hypotonia, respiratory and feeding difficulties, intellectual disability, myotonia, cataracts, cardiac arrhythmia and GI complaints.

Design/Methods We performed a retrospective chart review of patients with myotonic dystrophy type 1, diagnosed by mutation analysis and seen in the pediatric neuromuscular clinics at UT Southwestern, between 1990 and 2011.The institutional review board approved the study with waiver of informed consent. We defined congenital myotonic dystrophy (CMD) as symptoms evident within the first month of life up to 1 year; juvenile as beginning between 1and 12 years of age.

Results 51 patients were included; of those 38 (75%) were White- Non Hispanic, 27 (53%) were female. Twenty- seven (53%) patients had CDM, and of those, 22 (43%) were genetically diagnosed before the first year of life. 45 (85%) of patients inherited the mutation from the mother. The CTG trinucleotide repeat number ranged from 157 to 2080. Cognitive delay was present in 43 (84%) patients. More than one-half of the patients had GI disturbances such as constipation, diarrhea or pseudo-obstruction. Other comorbidities included cardiac symptoms or EKG/Echo abnormalities in 30 patients (60%), restrictive lung disease in 17 (33%), ocular and orthopedic problems.

Conclusions In DM presenting symptoms vary greatly and correlated with size of repeat expansion. The existence of different types of myotonic dystrophy has created a need to develop a diagnostic classification, however there is no consensus about the cut off of ages.

Authors/Disclosures
Diana Castro, MD (Neurology Rare Disease Center) PRESENTER	Dr. Castro has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Novartis. Dr. Castro has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Biogen. Dr. Castro has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for PTC. Dr. Castro has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Sarepta. Dr. Castro has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Novartis. The institution of Dr. Castro has received research support from Biogen. The institution of Dr. Castro has received research support from Sarepta. The institution of Dr. Castro has received research support from Fibrogen .
	No disclosure on file
Alexander U. Brandt, MD (Charite - Universitatsmedizin Berlin)	No disclosure on file
Christie M. Andersen (UT Southwestern Medical Center)	No disclosure on file
Susan T. Iannaccone, MD, FAAN (Department of Pediatrics)	Dr. Iannaccone has received personal compensation in the range of $500-$4,999 for serving as a Consultant for AveXis. Dr. Iannaccone has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Biogen. Dr. Iannaccone has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Sarepta. Dr. Iannaccone has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for AveXis. Dr. Iannaccone has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Sarepta. Dr. Iannaccone has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Catabasis. The institution of Dr. Iannaccone has received research support from AveXis. The institution of Dr. Iannaccone has received research support from Biogen. The institution of Dr. Iannaccone has received research support from Sarepta. The institution of Dr. Iannaccone has received research support from PTC Therapeutics. The institution of Dr. Iannaccone has received research support from FibroGen. The institution of Dr. Iannaccone has received research support from ReveraGen. The institution of Dr. Iannaccone has received research support from MDA. The institution of Dr. Iannaccone has received research support from PPMD. The institution of Dr. Iannaccone has received research support from NIH. Dr. Iannaccone has received personal compensation in the range of $0-$499 for serving as a grant reviewer with NIH.

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