Managing Myotonic Dystrophy Type 1 Complicated by Metabolic Syndrome

Myotonic dystrophy type 1 (MD1) is the most common form of muscular dystrophy in adults. MD1 is caused by the expansion of CTG repeats in the DMPK gene and affects various organs beyond muscles. We present a case of a patient with MD1 exhibiting features of metabolic syndrome (MetS), including insulin resistance and dyslipidemia. The patient was treated with PCSK9 inhibitors, ezetimibe, and bempedoic acid because of intolerance. Metabolic syndrome is more prevalent in patients with muscle disorders like MD1, primarily caused by the sedentary lifestyle associated with muscle weakness. Although no specific studies on MetS frequency in MD1 exist, data on its components are available. This case highlights the management of MetS in MD1 with innovative therapies. Managing metabolic syndrome in MD1 patients requires personalized therapies. This case introduces a promising therapeutic approach for statin-intolerant patients.

Authors

Institutions

Publication Details

Journal
JACC Case Reports
Published
2024-12-01
DOI
https://doi.org/10.1016/j.jaccas.2024.102761
Citations
2
Primary Topic
Genetic Neurodegenerative Diseases
Type
article
Field-Weighted Citation Impact
0.54
Controls
|||
ALL TIME
JAN
FEB
MAR
APR
MAY
JUN
JUL
AUG
SEP
OCT
article

Managing Myotonic Dystrophy Type 1 Complicated by Metabolic Syndrome

Anna Vittoria Mattioli, Alessandra Figueiredo de Castro Nassar, Marco Paolini, Francesca Coppi et al.
2 citations
JACC Case Reports
Genetic Neurodegenerative Diseases
0.54
article

Managing Myotonic Dystrophy Type 1 Complicated by Metabolic Syndrome

Anna Vittoria Mattioli, Alessandra Figueiredo de Castro Nassar, Marco Paolini, Francesca Coppi, Gianluca Pagnoni, Giuseppe Boriani, Francesca Grossule, Arianna Maini
article en
2 citations

Abstract

Myotonic dystrophy type 1 (MD1) is the most common form of muscular dystrophy in adults. MD1 is caused by the expansion of CTG repeats in the DMPK gene and affects various organs beyond muscles. We present a case of a patient with MD1 exhibiting features of metabolic syndrome (MetS), including insulin resistance and dyslipidemia. The patient was treated with PCSK9 inhibitors, ezetimibe, and bempedoic acid because of intolerance. Metabolic syndrome is more prevalent in patients with muscle disorders like MD1, primarily caused by the sedentary lifestyle associated with muscle weakness. Although no specific studies on MetS frequency in MD1 exist, data on its components are available. This case highlights the management of MetS in MD1 with innovative therapies. Managing metabolic syndrome in MD1 patients requires personalized therapies. This case introduces a promising therapeutic approach for statin-intolerant patients.

JACC Case ReportsVol. 29(23)
University of Modena and Reggio Emilia (IT), Azienda Ospedaliero-Universitaria di Modena (IT), University of Bologna (IT)
Openalex Percentile: Top 34%
Genetic Neurodegenerative Diseases
0.54
AI Navigator

Ask Laika to Summarize, Analyze, and Connect papers live on the map.

Summarize Papers & Methodologies

Extract key findings, datasets, and comparative methods across publications.

Benchmark Rankings & Visual Analytics

Rank top research institutions, authors, funders, topics, and journals by Field-Weighted Citation Impact (FWCI) and paper volume with instant charts.

Connect Distant Disciplines

Bridge topological clusters on the map to find hidden collaborative intersections.