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1237 search results for:

Myotonic Syndrome 

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  1. 01-12-2021 | Diseases of the neuromuscular synapses and muscles | BriefCommunication

    p.Asn1180Ile mutation of SCN4A gene in an Italian family with myopathy and myotonic syndrome

    Mutations of the skeletal muscle sodium channel gene ( SCN4A , sodium voltage-gated channel alpha subunit 4, Na v 1.4; OMIM: 603,967;17q23.3) are associated with several neuromuscular disorders including hyper/hypokaliemic periodic paralysis …

  2. 01-01-2015 | OriginalPaper

    Frontostriatal dysexecutive syndrome: a core cognitive feature of myotonic dystrophy type 2

    The aim of this study was to assess cognitive status in a large group of patients with myotonic dystrophy type 2 (DM2) compared to type 1 (DM1) subjects matched for gender and age, using a comprehensive battery of neuropsychological tests.

  3. 03-02-2024 | OriginalPaper

    Sleep Disorders and Fatigue in Patients with Different Forms of Myotonic Dystrophy Type 1

    Objectives. To characterize sleep disorders in children and adults with different forms of myotonic dystrophy type 1 (DM1) and to evaluate their impact on cognitive functions, excessive daytime sleepiness (EDS), and fatigue. To determine the …

  4. Open Access 30-03-2024 | Alzheimer's Disease | ReviewPaper

    Genetic forms of tauopathies: inherited causes and implications of Alzheimer’s disease-like TAU pathology in primary and secondary tauopathies

    Tauopathies are a heterogeneous group of neurologic diseases characterized by pathological axodendritic distribution, ectopic expression, and/or phosphorylation and aggregation of the microtubule-associated protein TAU, encoded by the gene MAPT.

  5. Open Access 01-12-2024 | Flexible Endoscopic Evaluation of Swallowing | ReviewPaper

    Systematic approach to contextualize findings of flexible endoscopic evaluation of swallowing in neurogenic dysphagia– towards an integrated FEES report

    Flexible endoscopic evaluation of swallowing (FEES) is one of the most important methods for instrumental swallowing evaluation. The most challenging part of the examination consists in the interpretation of the various observations encountered …

  6. Open Access 01-12-2020 | Myotonic Dystrophy | OriginalPaper

    A patient with myotonic dystrophy diagnosed after experiencing sudden respiratory failure: a case report

    Myotonic dystrophy is the most common and the most severe form of myotonic syndrome, and it is divided into two main types: myotonic dystrophy type 1 and myotonic dystrophy type 2. Myotonic dystrophy type 1 is caused by a trinucleotide …

  7. 22-04-2024 | Cardiomyopathy | Online First

    A case of myotonic dystrophy type 1 with severe dilated cardiomyopathy: an unusual presenting manifestation of the most common muscular dystrophy in adults

    Myotonic dystrophy type 1 (DM1), recognized as the most prevalent form of muscular dystrophy in adults, is an autosomal dominant disorder that impacts multiple systems, including skeletal, cardiac, and smooth muscles, as well as neurological …

  8. Open Access 06-12-2023 | Myotonic Dystrophy | OriginalPaper

    A retrospective study of accuracy and usefulness of electrophysiological exercise tests

    Skeletal muscle channelopathies are rare and heterogeneous disorders. Studies from United Kingdom and Netherlands estimated the prevalence of skeletal muscle channelopathies to be 2:100 000 [ 1 , 2 ]. Regional prevalence rates of specific skeletal …

  9. Open Access 01-06-2024 | Myotonic Dystrophy | OriginalPaper

    Multi-level profiling unravels mitochondrial dysfunction in myotonic dystrophy type 2

    Myotonic dystrophy type 2 (DM2) is an autosomal-dominant multisystemic disease with a core manifestation of proximal muscle weakness, muscle atrophy, myotonia, and myalgia. The disease-causing CCTG tetranucleotide expansion within the CNBP gene on …

  10. Open Access 28-01-2024 | Botulinum Toxin | OriginalPaper

    Successful Treatment of Schwartz-Jampel Syndrome with Botulinum Toxin Type A

    Schwartz-Jampel syndrome (SJS) is a rare autosomal recessive disorder characterized by typical facial dysmorphism, generalized muscle stiffness, joint contracture, and skeletal abnormalities. This condition is caused by mutations in the heparan …

  11. Open Access 01-12-2024 | ReviewPaper

    R-loop and diseases: the cell cycle matters

    The cell cycle is a crucial biological process that is involved in cell growth, development, and reproduction. It can be divided into G1, S, G2, and M phases, and each period is closely regulated to ensure the production of two similar daughter …

  12. 16-08-2023 | Myotonia | OriginalPaper

    Afterdischarges in myotonic dystrophy type 1

    Myotonic dystrophy type 1 (DM1) is a dominantly inherited disease characterized by muscle weakness, muscle atrophy, and myotonia resulting from repeated amplification of the CTG trinucleotide sequence encoding the dystrophia myotonica protein …

  13. 31-10-2023 | Abstract

    Abstracts of the 53 Annual Conference of the Italian Society of Neurology

  14. Open Access 01-12-2024 | OriginalPaper

    Natural L-type calcium channels antagonists from Chinese medicine

    L-type calcium channels (LTCCs), the largest subfamily of voltage-gated calcium channels (VGCCs), are the main channels for Ca2+ influx during extracellular excitation. LTCCs are widely present in excitable cells, especially cardiac and …

  15. Open Access 01-12-2024 | Infertility | ReviewPaper

    Conserved genes regulating human sex differentiation, gametogenesis and fertilization

    The study of the functional genome in mice and humans has been instrumental for describing the conserved molecular mechanisms regulating human reproductive biology, and for defining the etiologies of monogenic fertility disorders. Infertility is a …

  16. Open Access 21-12-2023 | Myopathy | OriginalPaper

    Next-generation sequencing and comprehensive data reassessment in 263 adult patients with neuromuscular disorders: insights into the gray zone of molecular diagnoses

    Neuromuscular disorders (NMD) constitute a wide range of conditions that affect motor neurons, peripheral nerves, the neuromuscular junction, and muscle tissue, making them highly heterogeneous both in terms of etiology and clinical presentation.

  17. 09-03-2024 | ReviewPaper

    Exploring the complexities of megacystis-microcolon-intestinal hypoperistalsis syndrome: insights from genetic studies

    Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is an uncommon genetic disorder inherited in an autosomal recessive pattern that affects the muscles that line the bladder and intestines. The most common genes associated with …

  18. Open Access 01-12-2023 | Huntington's Disease | ReviewPaper

    The use of digital outcome measures in clinical trials in rare neurological diseases: a systematic literature review

    Developing drugs for rare diseases is challenging, and the precision and objectivity of outcome measures is critical to this process. In recent years, a number of technologies have increasingly been used for remote monitoring of patient health. We …

  19. Open Access 01-12-2024 | Strabismus | OriginalPaper

    Visual and auditory attention defects in children with intermittent exotropia

    Strabismus is a prevalent ophthalmological disorder. Cases of peripheral origin may arise from ocular trauma, myotonic dystrophy, cranial nerve syndromes, and nerve palsies—such as the reported instance of abducens nerve palsy linked to Sars-Cov-2 …

  20. Open Access 01-12-2024 | Myopathy | ReviewPaper

    Pathogenic role and clinical significance of neutrophils and neutrophil extracellular traps in idiopathic inflammatory myopathies

    Idiopathic inflammatory myopathies (IIM) are a heterogeneous group of chronic autoimmune diseases characterized by muscle damage and extramuscular symptoms, including specific skin rash, arthritis, interstitial lung disease, and cardiac …

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