好色先生

好色先生

Explore the latest content from across our publications
Join The AAN

Log In

Forgot Password?
Create New Account

Loading... please wait

Abstract Details

The Prevalence and Impact of Symptoms in Childhood and Congenital Onset Myotonic Dystrophy Type-1: A Cross Sectional Study
Muscle Disease/Neuromuscular Junction
(-)
009
Myotonic dystrophy type 1 (DM1) is a multisystem, autosomal dominant disorder due to an unstable trinucleotide (CTG) repeat expansion at 19q13.3. Approximately 10% of patients present in infancy (congenital DM1; CDM) or early childhood (ChDM) and have very large repeat expansions and frequently have severe symptoms. To date there is no large scale, longitudinal characterization of the specific course and symptoms in individual patients with CDM or ChDM.
We performed qualitative interviews with patients and parents to identify symptoms that impacted their lives. We validated these symptoms using a survey sent to participants of the National Registry of DM1 Patients and Family Members (n=168 CDM/ChDM patients). CDM or ChDM patients were included if they developed symptoms before the age of 16 and were currently less than 40 years old. We categorized responses by age of onset, CTG repeat length, and disease duration.
Thirty-two patient-parent interviews identified 348 symptoms and 19 themes important to patients. Fifty-six registry patient/parents reviewed these symptoms and themes. The most prevalent themes were: problems with hands or fingers (83.3%), fatigue (81.1%), communication issues (80.9%), myotonia (78.1%), and limitations with mobility and walking (76%). Symptoms with the highest impact on quality of life were: communication difficulties and gastrointestinal complaints. Agreement between parent and child responses varied between symptoms. There were relationships between the age of onset, disease duration, medical history and the prevalence and relative importance of specific ChDM and CDM symptoms.
We identified the most frequent and highest impact symptoms a national, cross sectional sample of ChDM and CDM. These symptoms vary significantly by age and duration of disease. Many issues are under-recognized and may be amenable to future clinical or therapeutic intervention.
Authors/Disclosures
Nicholas E. Johnson, MD, FAAN (Virginia Commonwealth University)
PRESENTER 		Dr. Johnson has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Sarepta Therapuetics. Dr. Johnson has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Dyne Therapeutics. Dr. Johnson has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Vertex Pharma. Dr. Johnson has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Avidity. Dr. Johnson has received personal compensation in the range of $100,000-$499,999 for serving as a Consultant for Arthex. Dr. Johnson has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Juvena. Dr. Johnson has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Rgenta. Dr. Johnson has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Angle Therapeutics. Dr. Johnson has received personal compensation in the range of $500-$4,999 for serving as a Consultant for AskBio. Dr. Johnson has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Biogen. Dr. Johnson has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Argenx. Dr. Johnson has stock in Angle Therapeutics. Dr. Johnson has stock in Juvena Therapeutics. Dr. Johnson has stock in Myogene Therapies. The institution of Dr. Johnson has received research support from Novartis. The institution of Dr. Johnson has received research support from Takeda . The institution of Dr. Johnson has received research support from AMO Pharma. The institution of Dr. Johnson has received research support from Sarepta. The institution of Dr. Johnson has received research support from Dyne Therapeutics. The institution of Dr. Johnson has received research support from AskBio. The institution of Dr. Johnson has received research support from Pepgen. The institution of Dr. Johnson has received research support from ML Bio. The institution of Dr. Johnson has received research support from Vertex. The institution of Dr. Johnson has received research support from Arthex. The institution of Dr. Johnson has received research support from Avidity Biosciences. The institution of Dr. Johnson has received research support from Edgewise. Dr. Johnson has received intellectual property interests from a discovery or technology relating to health care.
Nuran Dilek (University of Rochester) Nuran Dilek has nothing to disclose.
No disclosure on file
No disclosure on file
James E. Hilbert, MS (University of Rochester) Mr. Hilbert has nothing to disclose.
No disclosure on file
Richard T. Moxley III, MD, FAAN Dr. Moxley has nothing to disclose.
Andrew Cole, MD, FAAN (Massachusetts General Hospital) Dr. Cole has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Medtronic. Dr. Cole has received personal compensation in the range of $500-$4,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for ANA. Dr. Cole has received publishing royalties from a publication relating to health care.
Chad R. Heatwole, MD, FAAN (University of Rochester Medical Center) Dr. Heatwole has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Virginia Commonwealth University. Dr. Heatwole has received personal compensation in the range of $50,000-$99,999 for serving as a Consultant for Legal Med. Dr. Heatwole has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Neurocrine. Dr. Heatwole has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Novartis. Dr. Heatwole has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Swan Bio. Dr. Heatwole has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Harmony. Dr. Heatwole has received personal compensation in the range of $0-$499 for serving as a Consultant for Iris. Dr. Heatwole has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Recursion. Dr. Heatwole has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Avidity Biosciences. Dr. Heatwole has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Lupin. Dr. Heatwole has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Neurocrine. Dr. Heatwole has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Sanofi. Dr. Heatwole has received personal compensation in the range of $500-$4,999 for serving as an Expert Witness for New York Central Mutual. Dr. Heatwole has received personal compensation in the range of $500-$4,999 for serving as an Expert Witness for Penn Prop and Gas. The institution of Dr. Heatwole has received research support from Department of Defense. The institution of Dr. Heatwole has received research support from Novartis. The institution of Dr. Heatwole has received research support from MJFF. The institution of Dr. Heatwole has received research support from FARA. The institution of Dr. Heatwole has received research support from NIH. The institution of Dr. Heatwole has received research support from University of Miami. The institution of Dr. Heatwole has received research support from MDA. Dr. Heatwole has received intellectual property interests from a discovery or technology relating to health care.