At 4 months of age, a male dog was presented with a complaint of a stiff gait following a startle response. Neurological examination revealed no deficits, but clinical myotonia was easily induced upon requesting the patient to jump. Additionally, myotonia of the upper lip muscles was observed upon manipulation. Hereditary myotonia was suspected, and electromyography confirmed the presence of myotonic potentials. Genetic testing of the myotonic patient identified a complex of mutations, including c.[1636_1639 delins AACGGG] and c.[1644 A>T], both located in exon 15 of the gene leading to the formation of a premature stop codon. Genetic investigations of the mother and four littermates revealed that, except for one littermate who was wild type, all others carried a copy of the mutated gene. To the best of the authors' knowledge, these mutations have not been previously reported.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11571544 | PMC |
| http://dx.doi.org/10.3389/fvets.2024.1485454 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Myotonia Congenita in Australian Merino Sheep with a Missense Variant in .
Animals (Basel)
December 2024
Sydney School of Veterinary Science, The University of Sydney, Camden, NSW 2570, Australia.
Myotonia congenita is a hereditary, non-dystrophic skeletal muscle disorder associated with muscle stiffness due to delayed muscle relaxation after contraction. We review myotonia congenita in domesticated animals and humans and investigated suspected myotonia congenita in a flock of Merino sheep in Australia. In 2020, a property in New South Wales reported a four-year history of lambs that would fall on disturbance before rapidly recovering, with 13 affected sheep identified in 2020.
View Article and Find Full Text PDF[Breathing disorders during sleep in patients with dystrophic myotonia].
Zh Nevrol Psikhiatr Im S S Korsakova
December 2024
Republican Scientific and Practical Center of Neurology and Neurosurgery, Minsk, Belarus.
Objective: To analyze the results of nocturnal breathing parameters during sleep based on nocturnal pulse oximetry and to study of characteristics of external respiration in genetically confirmed patients with dystrophic myotonia (DM).
Material And Methods: The subjects of the study were patients with genetically confirmed DM types 1 and 2 who were hospitalized in the neurological departments of the Republican Scientific and Practical Center for Neurology and Neurosurgery. The clinical picture of the disease, comorbidities, sleep questionnaires, laboratory tests, overnight pulse oximetry and spirometry were performed and analyzed.
Case report: A complex variant mutation in exon 15 in a mixed-breed dog with hereditary myotonia.
Front Vet Sci
November 2024
Department of Veterinary Clinical Science, School of Veterinary Medicine and Animal Science, São Paulo State University (Unesp), Botucatu, SP, Brazil.
At 4 months of age, a male dog was presented with a complaint of a stiff gait following a startle response. Neurological examination revealed no deficits, but clinical myotonia was easily induced upon requesting the patient to jump. Additionally, myotonia of the upper lip muscles was observed upon manipulation.
View Article and Find Full Text PDFRNA mis-splicing in children with congenital myotonic dystrophy is associated with physical function.
Ann Clin Transl Neurol
December 2024
Center for Inherited Myology Research, Virginia Commonwealth University, Richmond, Virginia, 23298, USA.
Article Synopsis
- The study investigates the link between RNA alternative splicing abnormalities and physical function in children with congenital myotonic dystrophy (CDM), a severe form of myotonic dystrophy type 1 (DM1).
- Researchers analyzed data from 82 participants, including adults with DM1 and children with CDM, assessing muscle biopsies, motor function, strength, and myotonia.
- Results showed a significant correlation between myotonia and RNA mis-splicing in all DM1 individuals, while motor performance and strength were associated with splicing dysregulation, aiding future clinical trial designs for DM1 and CDM.
Loss-of-function variants in cause congenital myopathy with prominent facial and ocular involvement.
J Med Genet
September 2024
The John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
Article Synopsis
- This study looked at four people with a muscle disease that affects their faces, eyes, and ability to move.
- The researchers found that all four had similar symptoms and looked at their DNA to understand the problem.
- They discovered that a gene called junctophilin-1 doesn't work properly in these patients, which is important for muscle function, and this could explain their muscle weakness and other symptoms.
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!