Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8016003 | PMC |
| http://dx.doi.org/10.5603/CJ.2020.0120 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Enhancing Mobility: Surgical Deformity Correction and Rehabilitation in Emery-Dreifuss Muscular Dystrophy Type 2.
Cureus
November 2024
Physical Medicine and Rehabilitation, St. John's National Academy of Health Sciences, Bengaluru, IND.
Emery-Dreifuss Muscular Dystrophy (EDMD) is a rare genetic disorder characterized by muscle weakness, joint contractures, and cardiac dysfunction. Within this spectrum, EDMD Type 2, attributed to a heterozygous missense variant in exon 9 of the LMNA gene, presents a distinctive clinical profile. This case report details the presentation and management of a teenage girl displaying neck, trunk, upper and lower limb weakness, Achilles tendon contracture, and lordosis.
View Article and Find Full Text PDFMuch More Than a Stroke: Emery-Dreifuss Muscular Dystrophy Type 2 Revealed by Ischemic Stroke.
Cureus
November 2024
Stroke Unit, Centro Hospitalar Tondela-Viseu, Viseu, PRT.
Emery-Dreifuss muscular dystrophy type 2 (EDMD2) is a rare autosomal dominant neuromuscular disorder caused by LMNA gene mutations and characterized by progressive skeletal muscle weakness and significant cardiac involvement. We report the case of a 45-year-old woman who presented with sudden-onset, left-sided hemiparesis and dysarthria. Initial imaging was unremarkable, and symptoms transiently improved, suggesting a transient ischemic attack.
View Article and Find Full Text PDFCase Report: Concurrent pathogenic variants in the gene as a cause of sporadic partial lipodystrophy.
Front Genet
November 2024
Department of Nutrition, Diabetes and Metabolism, School of Medicine, Pontificia Universidad Católica de Chile, Santiago, Chile.
Introduction: Inherited lipodystrophies are a group of rare diseases defined by severe reduction in adipose tissue mass and classified as generalized or partial. We report a non-familial (sporadic) case of partial lipodystrophy caused by a novel genetic mechanism involving closely linked pathogenic variants in the gene.
Methods: A female adult with partial lipodystrophy and her parents were evaluated for gene variants across the exome under different mendelian inheritance models (autosomal dominant, recessive, compound heterozygous, and X-linked) to find pathogenic variants.
"Natural history of skeletal muscle laminopathies: a 2-year prospective study".
Neuromuscul Disord
November 2024
Neuroimmunology and Neuromuscular Diseases Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy. Electronic address:
Article Synopsis
- Skeletal muscle laminopathies (SMLs) are rare genetic disorders linked to mutations in the LMNA gene, affecting skeletal muscles.
- A 2-year study involving 26 patients aimed to understand the progression of SMLs, using various assessments for muscle performance and respiratory function.
- Results indicated a significant decline in muscle function (NSAA score) and respiratory capacity (FVC and FEV1) over two years, while other measurements like walking tests and joint flexibility remained stable.
Two Moroccan Families with Emery-Dreifuss Muscular Dystrophy and Report of a Novel Pathogenic Variant.
Mol Syndromol
December 2024
Research team in genomics and molecular epidemiology of genetic diseases, Genomics Center of Human Pathologies, Faculty of Medicine and Pharmacy, University Mohammed V of Rabat, Rabat, Morocco.
Article Synopsis
- - Emery-Dreifuss muscular dystrophy (EDMD) is a neuromuscular disorder that leads to muscle weakness and heart problems, mainly caused by mutations in specific genes, identified through next-generation sequencing (NGS).
- - The study examined two Moroccan patients with EDMD, revealing one with a known splicing variant and another with a new frameshift variant, along with testing relatives for carrier status.
- - The findings highlight NGS as crucial for accurately diagnosing EDMD, managing patient care, and providing genetic counseling to affected families.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!