keyword
https://read.qxmd.com/read/38473107/variants-in-clcn1-and-pde4c-associated-with-muscle-hypertrophy-dysphagia-and-gait-abnormalities-in-young-french-bulldogs
#1
JOURNAL ARTICLE
G Diane Shelton, James R Mickelson, Steven G Friedenberg, Jonah N Cullen, Karina Graham, Missy C Carpentier, Ling T Guo, Katie M Minor
(1) Background: Muscle hypertrophy, swallowing disorders, and gait abnormalities are clinical signs common to many muscle diseases, including muscular dystrophies, non-dystrophic myotonias, genetic myopathies associated with deficiency of myostatin, and acquired inflammatory myopathies. Here, we investigated underlying causes of this triad of clinical signs in four young French bulldogs via muscle histopathology coupled with whole genome and Sanger sequencing. (2) Methods: Dogs were evaluated by veterinary clinical internists and neurologists, and biopsies were obtained for histopathological diagnosis...
February 25, 2024: Animals: An Open Access Journal From MDPI
https://read.qxmd.com/read/38469025/autosomal-recessive-myotonia-congenita-in-an-adolescent-boy-with-novel-mutation-a-case-report-with-discussion-on-management
#2
Palash Das, Debasis Panigrahi
Congenital myotonia represents a rare group of genetically inherited conditions. It can be either autosomal dominant (Thomsen) or autosomal recessive (Becker). It is characterized by muscular hypertrophy, proximal weakness, and myotonia, or impaired relaxation after contraction. These are due to mutations in the CLC1 gene. A 14-year-old male child presented with complaints of gradually progressive weakness for five years. Weakness was more pronounced in the proximal muscle groups. The weakness worsened after rest and improved with activity...
February 2024: Curēus
https://read.qxmd.com/read/38333661/a-couple-of-the-first-cousins-born-with-hypotonia-and-maternal-polyhydramnios
#3
Mousa Ahmadpour-Kacho, Yadollah Zahed Pasha, Samira Pournajaf
UNLABELLED: Congenital myotonic dystrophy should be considered in hypotonic infants with polyhydramniotic mothers with a positive history of myotonia. ABSTRACT: Congenital myotonic dystrophy (CDM) is a predominantly maternally inherited disease and results from increased numbers of cytosine, thymine, and guanine (CTG) repeats in the unstable DNA regions and presents as hypotonia in the neonatal period and myotonia in adulthood. This report aims to present two cases of CDM...
February 2024: Clinical Case Reports
https://read.qxmd.com/read/38278647/clinical-and-molecular-characteristics-of-26-fetuses-with-lethal-multiple-congenital-contractures
#4
JOURNAL ARTICLE
Gozde Tutku Turgut, Umut Altunoglu, Cagri Gulec, Tugba Sarac Sivrikoz, Tuğba Kalaycı, Guven Toksoy, Şahin Avcı, Behiye Tuğçe Yıldırım, Gözde Yeşil Sayın, Ibrahim Halil Kalelioglu, Birsen Karaman, Recep Has, Seher Başaran, Atil Yuksel, Hülya Kayserili, Zehra Oya Uyguner
Multiple congenital contractures (MCC) due to fetal akinesia manifest across a broad spectrum of diseases, ranging from mild distal arthrogryposis to lethal fetal akinesia deformation sequence. We hereby present a series of 26 fetuses displaying severe MCC phenotypes from 18 families and describe detailed prenatal ultrasound findings, postmortem clinical evaluations, and genetic investigations. Most common prenatal findings were abnormal facial profile (65%), central nervous system abnormalities (62%), polyhydramnios (50%), increased nuchal translucency (50%), and fetal hydrops (35%)...
January 26, 2024: Clinical Genetics
https://read.qxmd.com/read/38187266/-scn4a-related-congenital-myopathy-in-a-han-chinese-patient-a-case-report-and-literature-review
#5
Tina Yee-Ching Chan, Ling-Yin Hung, Tiffany Yan-Lok Lam, Bun Sheng, Frank Ying-Kit Leung, Hencher Han-Chih Lee
SCN4A mutations have been shown to be associated with myotonia, paramyotonia congenita, and periodic paralyses. More recently, loss-of-function variants in the SCN4A gene were also noted to be associated with rarer, autosomal recessive forms of congenital myasthenic syndrome and congenital myopathy. Diagnosis is challenging as the initial clinical presentation and histological features on muscle biopsies are non-specific. We report a Han Chinese patient presented with congenital myopathy with two missense SCN4A variants...
January 15, 2024: Heliyon
https://read.qxmd.com/read/38088012/myotonic-dystrophy-type-1-steinert-disease-29-years-of-experience-at-a-tertiary-pediatric-hospital
#6
JOURNAL ARTICLE
Inês Cascais, Cristina Garrido, Lurdes Morais, Rosa Amorim, Rosa Lima, Helena Ferreira Mansilha, Teresa Correia, António Oliveira, Manuela Santos
BACKGROUND: Myotonic dystrophy type 1 (DM1) is a multisystemic disorder caused by the expansion of a noncoding triplet repeat. METHODS: A cross-sectional study was performed to characterize pediatric patients with DM1 followed in a tertiary hospital over the last 29 years, comparing the congenital and the childhood/juvenile-onset forms. RESULTS: Thirty-seven patients (59.5 % male) were included, with a median age at the latest assessment of 16...
December 6, 2023: European Journal of Paediatric Neurology: EJPN
https://read.qxmd.com/read/37727158/epileptic-channelopathies-and-neuromuscular-disorders-in-newborns-a-narrative-review
#7
REVIEW
Mohammad N Almohammal
Neonates can have ion channel abnormalities known as channelopathies, which can impact any organ system. These abnormalities cause seizures, which can result in developmental delays and lead to early death. For a child's long-term neurodevelopment, early identification as a channelopathy is essential to avoid any brain damage. Therefore, this review aims to focus on early diagnostic criteria. Since it might be difficult for doctors to interpret the presenting symptoms of channelopathies, a thorough diagnostic examination that follows a methodical step-by-step procedure is essential...
August 2023: Curēus
https://read.qxmd.com/read/37562884/muscle-channelopathies
#8
REVIEW
Vinojini Vivekanandam, Dipa Jayaseelan, Michael G Hanna
Muscle channelopathies encompass a wide range of mainly episodic conditions that are characterized by muscle stiffness and weakness. The myotonic conditions, characterized predominantly by stiffness, include myotonia congenita, paramyotonia congenita, and sodium channel myotonia. The periodic paralysis conditions include hypokalemic periodic paralysis, hyperkalemic periodic paralysis, and Andersen-Tawil syndrome. Clinical history is key, and diagnosis is confirmed by next-generation genetic sequencing of a panel of known genes but can also be supplemented by neurophysiology studies and MRI...
2023: Handbook of Clinical Neurology
https://read.qxmd.com/read/37445828/therapeutic-targeting-of-the-gsk3%C3%AE-cugbp1-pathway-in-myotonic-dystrophy
#9
JOURNAL ARTICLE
Maggie Lutz, Miranda Levanti, Rebekah Karns, Genevieve Gourdon, Diana Lindquist, Nikolai A Timchenko, Lubov Timchenko
Myotonic Dystrophy type 1 (DM1) is a neuromuscular disease associated with toxic RNA containing expanded CUG repeats. The developing therapeutic approaches to DM1 target mutant RNA or correct early toxic events downstream of the mutant RNA. We have previously described the benefits of the correction of the GSK3β-CUGBP1 pathway in DM1 mice ( HSALR model) expressing 250 CUG repeats using the GSK3 inhibitor tideglusib (TG). Here, we show that TG treatments corrected the expression of ~17% of genes misregulated in DM1 mice, including genes involved in cell transport, development and differentiation...
June 26, 2023: International Journal of Molecular Sciences
https://read.qxmd.com/read/37106355/neutral-lipid-storage-disease-with-myopathy-and-myotonia-associated-to-pathogenic-variants-on-pnpla2-and-clcn1-genes-case-report
#10
JOURNAL ARTICLE
João Igor Dantas Landim, Ian Silva Ribeiro, Eduardo Braga Oliveira, Hermany Capistrano Freitas, Lara Albuquerque Brito, Isaac Holanda Mendes Maia, Daniel Gurgel Fernandes Távora, Cleonisio Leite Rodrigues
BACKGROUND: Neutral lipid storage disease with myopathy (NLSD-M) is an autosomal recessive disease that manifests itself around the 3rd to 4th decade with chronic myopathy predominantly proximal in the shoulder girdle. Clinical myotonia is uncommon. We will report a rare case of association of pathogenic variants on PNPLA2 and CLCN1 genes with a mixed phenotype of NLSD-M and a subclinical form of Thomsen's congenital myotonia. CASE PRESENTATION: We describe a patient with chronic proximal myopathy, subtle clinical myotonia and electrical myotonia on electromyography (EMG)...
April 27, 2023: BMC Neurology
https://read.qxmd.com/read/36782350/-congenital-myotonia-incidence-and-presentation-of-a-series-of-cases
#11
M F Martos-Lirio, R Calvo-Medina, C Ruiz-García, J M Ramos-Fernández
INTRODUCTION: Myotonia congenita is the most common form of genetic myotonia and is caused by mutations in the CLCN1 gene. It can be inherited in an autosomal dominant or recessive manner. We present a series of cases to update its incidence in our environment, to describe its phenotype in relation to the genotype found, and we also review the mutations found, among which we provide a new, undescribed alteration. CASES REPORT: The medical records of patients with a diagnosis of congenital myotonia studied and followed up in the pediatric neurology section in a tertiary hospital between the years 2015-2020 were reviewed...
February 16, 2023: Revista de Neurologia
https://read.qxmd.com/read/36762492/the-current-status-of-medical-care-for-myotonic-dystrophy-type-1-in-the-national-registry-of-japan
#12
JOURNAL ARTICLE
Kosuke Yamauchi, Tsuyoshi Matsumura, Hiroto Takada, Satoshi Kuru, Michio Kobayashi, Tomoya Kubota, En Kimura, Harumasa Nakamura, Masanori P Takahashi
INTRODUCTION/AIMS: Myotonic dystrophy (DM) is a systemic disease with multiple organ complications, making the standardization of medical care a challenge. To clarify the current treatment patterns and demographic features of Japanese DM patients, we analyzed data from Japan's national registry. METHODS: Using the Japanese National Registry of Muscular Dystrophy (Remudy), we analyzed medical care practice for the multisystemic issues associated with adult DM type 1 patients, excluding congenital DM...
February 10, 2023: Muscle & Nerve
https://read.qxmd.com/read/36540316/chloride-channel-mutations-leading-to-congenital-myotonia
#13
Amir Nik, Najmeh Ahangari, Paria Najarzadeh Torbati, Reza Boostani, Ehsan Ghayoor Karimiani
Congenital myotonia is a non-dystrophic musculoskeletal disease that causes abnormal muscle relaxation. The prevalence of congenital disorders is notably high in Iran, emphasizing the importance of genetic assessment in suspicious cases. In this study, we aim to report cases with the chloride channel gene, CLCN1, mutations leading to significant morbidity. This case report study investigated four patients from four families with clinically defined congenital myotonia. Inclusion criteria were increased creatinine kinase (CK) and muscle stiffness...
December 2022: Curēus
https://read.qxmd.com/read/36381256/overview-of-neuromuscular-disorder-molecular-diagnostic-experience-for-the-population-of-latvia
#14
JOURNAL ARTICLE
Baiba Lace, Ieva Micule, Viktorija Kenina, Signe Setlere, Jurgis Strautmanis, Inese Kazaine, Gita Taurina, Daiga Murmane, Ieva Grinfelde, Liene Kornejeva, Zita Krumina, Olga Sterna, Ilze Radovica-Spalvina, Inta Vasiljeva, Linda Gailite, Janis Stavusis, Diana Livcane, Dita Kidere, Ieva Malniece, Inna Inashkina
Background and Objectives: Genetic testing has become an integral part of health care, allowing the confirmation of thousands of hereditary diseases, including neuromuscular disorders (NMDs). The reported average prevalence of individual inherited NMDs is 3.7-4.99 per 10,000. This number varies greatly in the selected populations after applying population-wide studies. The aim of this study was to evaluate the effect of genetic analysis as the first-tier test in patients with NMD and to calculate the disease prevalence and allelic frequencies for reoccurring genetic variants...
June 2022: Neurology. Genetics
https://read.qxmd.com/read/35971866/european-neuromuscular-centre-consensus-statement-on-anaesthesia-in-patients-with-neuromuscular-disorders
#15
JOURNAL ARTICLE
Luuk R van den Bersselaar, Luc Heytens, Helga C A Silva, Jens Reimann, Giorgio Tasca, Óscar Díaz-Cambronero, Nicoline Løkken, Anna Hellblom, Philip M Hopkins, Henrik Rueffert, Börge Bastian, Juan Jesus Vilchez, Robyn Gillies, Stephan Johannsen, Francis Veyckemans, Tino Muenster, Andrea Klein, Ron Litman, Heinz Jungbluth, Sheila Riazi, Nicol C Voermans, Marc M J Snoeck
BACKGROUND AND PURPOSE: Patients with neuromuscular conditions are at increased risk of suffering perioperative complications related to anaesthesia. There is currently little specific anaesthetic guidance concerning these patients. Here, we present the European Neuromuscular Centre (ENMC) consensus statement on anaesthesia in patients with neuromuscular disorders as formulated during the 259th ENMC Workshop on Anaesthesia in Neuromuscular Disorders. METHODS: International experts in the field of (paediatric) anaesthesia, neurology, and genetics were invited to participate in the ENMC workshop...
December 2022: European Journal of Neurology
https://read.qxmd.com/read/35866763/sequence-clcn1-and-scn4a-genes-in-patients-with-nondystrophic-myotonia-in-chinese-people
#16
JOURNAL ARTICLE
Yan-Xin Meng, Mei Yu, Chunmiao Liu, Haijuan Zhang, Yuxiu Yang, Jing Zhang
BACKGROUND: This study aimed to characterize the genetic, pathological, and clinical alterations of 17 patients in China presenting with nondystrophic myotonia (NDM) and to analyze the relationship between genotype and clinical phenotype. METHODS: CLCN1 and SCN4A genes in patients with clinical features and muscle pathology indicative of NDM were sequenced. Furthermore, KCNE3 and CACNA1S genes were assessed in patients with wild-type CLCN1 and SCN4A. RESULTS: Patients may have accompanying atypical myopathy as well as muscle hypertrophy, secondary dystonia, and joint contracture as determined by needle electromyography...
July 22, 2022: Medicine (Baltimore)
https://read.qxmd.com/read/35415130/freeman-sheldon-syndrome-with-stiff-knee-gait-a-case-report
#17
Sandeep Sehrawat, Sumit Sural, Pon Aravindhan A Sugumar, Shahrukh Khan, Santanu Kar, Madhan Jeyaraman
Introduction: Freeman-Sheldon syndrome (FSS), also known as the distal arthrogryposis (DA) type 2A, is a rare congenital anomaly. We report a unique case of the DA type 2A with mixed clinical features and the unusual presentation of bilateral congenital dislocation of the knee but had unassisted stiff knee gait. Case Report: A 5-year-old female child presented to the clinic with the complaint of inability to bend both knees since birth. She had an unassisted bipedal gait, but could not squat, cross-leg sit, run, and climb stairs without assistance...
November 2021: Journal of Orthopaedic Case Reports
https://read.qxmd.com/read/35019138/myotonic-dystrophy-type-1-embryonic-stem-cells-show-decreased-myogenic-potential-increased-cpg-methylation-at-the-dmpk-locus-and-rna-mis-splicing
#18
JOURNAL ARTICLE
Silvie Franck, Edouard Couvreu De Deckersberg, Jodi L Bubenik, Christina Markouli, Lise Barbé, Joke Allemeersch, Pierre Hilven, Geoffrey Duqué, Maurice S Swanson, Alexander Gheldof, Claudia Spits, Karen D Sermon
Skeletal muscle tissue is severely affected in myotonic dystrophy type 1 (DM1) patients, characterised by muscle weakness, myotonia and muscle immaturity in the most severe congenital form of the disease. Previously, it was not known at what stage during myogenesis the DM1 phenotype appears. In this study we differentiated healthy and DM1 human embryonic stem cells to myoblasts and myotubes and compared their differentiation potential using a comprehensive multi-omics approach. We found myogenesis in DM1 cells to be abnormal with altered myotube generation compared to healthy cells...
January 15, 2022: Biology Open
https://read.qxmd.com/read/35001896/static-postural-control-deficits-in-adults-with-myotonic-dystrophy-type-1-steinert-disease
#19
JOURNAL ARTICLE
Audrey Parent, Laurent Ballaz, Bahare Samadi, Maria Vocos, Alain Steve Comtois, Annie Pouliot-Laforte
BACKGROUND: Myotonic dystrophy type 1 (DM1) is characterized by progressive and predominantly distal muscle atrophy and myotonia. Gait and balance impairments, resulting in falls, are frequently reported in this population. However, the extent to which individuals with DM1 rely more on a specific sensory system for balance than asymptomatic individuals (AI) is unknown. OBJECTIVE: Evaluate postural control performance in individuals with DM1 and its dependence on vision compared to AI...
2022: Journal of Neuromuscular Diseases
https://read.qxmd.com/read/34923335/characteristics-of-myotonic-dystrophy-patients-in-the-national-registry-of-japan
#20
JOURNAL ARTICLE
Marika Sugimoto, Satoshi Kuru, Hiroto Takada, Riho Horie, Kosuke Yamauchi, Tomoya Kubota, Tsuyoshi Matsumura, Harumasa Nakamura, En Kimura, Masanori P Takahashi
Myotonic dystrophies (DM) are inherited autosomal dominant disorders affecting multiple organs. Currently available therapeutics for DM are limited; therefore, a patient registry is essential for therapeutic development and success of clinical trials targeting the diseases. We have developed a nationwide DM registry in Japan under the Registry of Muscular Dystrophy (Remudy). The registration process was patient-initiated; however, physicians certified the clinical information. The dataset includes all Naarden and TREAT-NMD core datasets and additional items covering major DM clinical features...
December 11, 2021: Journal of the Neurological Sciences
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