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PROCEEDINGS OF THE XVII CONGRESS OF THE ITALIAN ASSOCIATION OF MYOLOGY Siracusa, Italy May 31 - June 3, 2017.

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… (Bari, Milano, Siena, Napoli) P.50 Myotonic dystrophy type 2 in a Sicilian cohort: a challenging diagnosis by biomolecular tests Biasini F., Rodolico C., Brizzi T., Cardani R., Valaperta R., Toscano A., Meola G., (Messina, Milano) P.51 Cardiac troponin T in skeletal muscle from myotonic dystrophies … (Pisa) P.62 Evidence of mitochondrial dysfunction delays the diagnosis of myotonic dystrophy type 2 Valentino M.L., La Morgia C., Pellegrini C., Caporali L., Lodi R., Liguori R., Carelli V. …

Hypertrophic Cardiomyopathy Phenocopies: Classification, Key Features, and Differential Diagnosis.

Among cardiomyopathies, the hypertrophic phenotype is the most common, and hypertrophic cardiomyopathy (HCM) phenocopies represent a heterogeneous group of conditions. They are defined by a left ventricular wall thickness ≥15 mm in the absence of other causes such as loading conditions, ischemia, or valvular disease. Although they mimic similar clinical and morphological features, their etiologies are distinct and include genetic, metabolic, and infiltrative mechanisms. Therefore, accurate classification and differential diagnosis are crucial for effective management and treatment. Sarcomeric

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… About neuromuscular diseases associated with HCM, X-linked recessive muscular dystrophies, myotonic dystrophies, and myofibrillar myopathies have to be considered. … Myotonic dystrophy type 1 Myotonic dystrophy type 1 is a genetic multisystem disorder with autosomal dominant inheritance and incomplete penetrance. The primary clinical symptoms include myotonia and muscle weakness, though both the cardiovascular and respiratory systems are affected. …

Neuromuscular disorders in clinical practice: case studies.

Neuromuscular disorders represent a large group of highly varied and interesting clinical disorders, many of which have major general medical manifestations. These disorders can be diagnosed largely based on the patient's history and physical examination with a little help from modern technology. Despite the outdated belief that neurologic conditions are diagnosed but rarely treatable, all cases discussed herein represent disorders for which there are extensive options and opportunities for meaningful management. These 16 brief case overviews challenge and refresh diagnostic skills and provide

Approved and investigational uses of modafinil : an evidence-based review.

Modafinil is a wake-promoting agent that is pharmacologically different from other stimulants. It has been investigated in healthy volunteer … ataplexy.In very small, short-term trials, modafinil improved excessive sleepiness in patients with myotonic dystrophy. It was efficacious in fairly large studies of attention deficit hyperactivity disorder (ADHD) in children and adolescents, and was as efficacious as methylphenidate in a small trial, but has not been approved by the FDA, in part because of its seri …

Dominance and homozygosity.

Because of the high consanguinity rates in many communities in Israel we had the opportunity to study homozygosity for some dominant disorders. This experience and a review confirmed that in most cases homozygotes of dominant disorders are more severely affected than heterozygotes. In some cases molecular analysis allowed an understanding of the mechanisms involved. While heterozygosity for point mutations or deletions of PAX3 lead to similar manifestations (Waardenburg syndrome), in homozygotes the phenotype is much more severe, probably in direct relation to the loss of function. Charcot-Mar

Symptomatic narcolepsy, cataplexy and hypersomnia, and their implications in the hypothalamic hypocretin/orexin system.

Human narcolepsy is a chronic sleep disorder affecting 1:2000 individuals. The disease is characterized by excessive daytime sleepiness, cataplexy and other abnormal manifestations of REM sleep, such as sleep paralysis and hypnagogic hallucinations. Recently, it was discovered that the pathophysiology of (idiopathic) narcolepsy-cataplexy is linked to hypocretin ligand deficiency in the brain and cerebrospinal fluid (CSF), as well as the positivity of the human leukocyte antigen (HLA) DR2/DQ6 (DQB1*0602). The symptoms of narcolepsy can also occur during the course of other neurological conditio

Неврология Андрогенса и Андродогенных добавок.

ЦЕЛЬ ОБЗОРА: В этой статье рассматривается сложная взаимосвязь между индрогенами, индрогенными рецепторами и центральной нервной системой. Мы изучаем роль физиологически производных ирогенов и андрогенных добавок в нейроразвитии и нейропластике и вникаем в участие индрогенных путей в патогенезе различных неврологических расстройств. ПОСЛЕДНИЕ ВЫВОДЫ: В настоящем обзоре обращается внимание на растущее признание тестостеронного и индрогенного сигналов в различных неврологических условиях, при этом имеются свидетельства как защитного, так и вредного воздействия в зависимости от дозы и контекста.

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… A randomized, controlled, double-blind trial conducted in 1989 studied the effects of TRT in 40 men with myotonic dystrophy and ultimately demonstrated increased muscle mass but without positive impact on overall strength [ 41 ]. … As of March 2025, there are no ongoing clinical trials investigating TRT in patients with myotonic dystrophy, likely due to a limited patient population. …

Treatment of central disorders of hypersomnolence: an American Academy of Sleep Medicine clinical practice guideline.

INTRODUCTION: This guideline establishes clinical practice recommendations for the treatment of central disorders of hypersomnolence in adul … IONAL). 19: We suggest that clinicians use modafinil for the treatment of hypersomnia secondary to myotonic dystrophy in adults. (CONDITIONAL). 20: We suggest that clinicians use modafinil for the treatment of hypersomnia secondary to multiple sclerosis in adults. (CONDITIONAL). 21: We suggest that clinicians use modafinil for the treatment of narcolepsy in pedia …

Metastatic melanoma to the ovary in pregnancy: A case report.

Metastatic melanoma to the ovary is an uncommon presentation. We report a case of metastatic melanoma to the ovary that presented as a growing left adnexal mass during pregnancy and was thought to be benign by imaging and frozen section pathology. Here we discuss the challenges in radiologic and pathologic diagnosis, as well as considerations for the mother and newborn.

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… dystrophy. … The patient shares her mother’s pathogenic repeat expansion associated with type 2 myotonic dystrophy. Review of transvaginal ultrasound 3 months prior to her last menstrual period showed no adnexal masses. …

State of oral mucosa as an additional symptom in the course of primary amyloidosis and multiple myeloma disease.

Multiple myeloma (myeloma multiplex (MM)) is a malignant non-Hodgkin's lymphoma derived from B cell. Its essence is a malignant clone of plasma cells synthesizing growth of monoclonal immunoglobulin, which infiltrate the bone marrow, destroy the bone structure, and prevent the proper production of blood cells components. The paper presents a case of 62-year-old patient who developed symptoms in addition to neurological and haematological changes in the oral mucosa in the course of multiple myeloma. The treatment resulted in partial improvement. The authors wish to draw attention not only to no

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… Moreover the patient underwent the diagnosis of muscle sclerosis and was suspected to have myotonic dystrophy type 2. The biopsy from the lower lip showed hyaline degeneration and fibrosis as well as focuses of Langhans giant cells. … This allowed diagnosing noncharacteristic changes suggesting myotonic dystrophy type 2 and thus confirmed assumptions concerning simultaneous occurrence of AMD. Characteristic symptoms which appeared before MM allowed diagnosing primary AMD and MM. …

[Expert consensus on the diagnosis and treatment of sleep-disordered breathing related to neuromuscular diseases].

Neuromuscular diseases are often accompanied by various types of sleep-related breathing disorders, which can exacerbate the underlying cond … hing include: myasthenia gravis (1A), amyotrophic lateral sclerosis (2B), post-polio syndrome (2B), myotonic dystrophy (2B), peripheral neuropathies (2C), and metabolic myopathies, among other neuromuscular conditions.Statement 2: Patients with neuromuscular disorders frequently develop multiple types of sleep-disordered breathing concurrently or sequentially, with …

Метформин репурируется в неврологических расстройствах: клинический экспериментальный ландшафт.

КОЛИЧЕСТВО: Неврологические расстройства, такие, как болезнь Альцгеймера (AD) и множественный склероз (MS), предполагают постепенную потерю нервных клеток, а текущее лечение в основном обеспечивает симптоматическое облегчение без остановки развития болезни. Для устранения этого пробела перспективным подходом является перерасчет лекарств. Метформин, широко используемый пероральный антидиабетический препарат, изучается в случае расстройств центральной нервной системы (СНС) в силу его множественных последствий, включая активацию аденосинового монофосфата, активирующего белковую киназу (АМПК), под

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… Dystrophy’) NOT Diabetes NOT Cancer. … Monotherapy was used in trials for MS, FXS, CP, migraine, fibromyalgia and myotonic dystrophy. Adjunct therapy was used in schizophrenia/psychosis, epilepsy and some PD trials. Trial durations ranged from 8 to 96 weeks, according to the disease-specific design and outcome measures. …

Abstracts of the 19th International Congress on Neuromuscular Diseases 7th – 11th July 2026

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… Genetic and Acquired Myopathies: Clinical Features, Pathophysiology, Therapy: Dystrophinopathies Images or Table (Optional) OS01.03 Targeting Musashi-2 With Antisense Oligonucleotides Mitigates Muscle Pathology in Myotonic Dystrophy Type 1 Dr. Dulce Peris-Moreno 1 , Ms. … dystrophy type 1 (DM1) and may cause substantial functional impairment. …

Insight and Recommendations for Fragile X-Premutation-Associated Conditions from the Fifth International Conference on FMR1 Premutation.

The premutation of the fragile X messenger ribonucleoprotein 1 (FMR1) gene is characterized by an expansion of the CGG trinucleotide repeats (55 to 200 CGGs) in the 5' untranslated region and increased levels of FMR1 mRNA. Molecular mechanisms leading to fragile X-premutation-associated conditions (FXPAC) include cotranscriptional R-loop formations, FMR1 mRNA toxicity through both RNA gelation into nuclear foci and sequestration of various CGG-repeat-binding proteins, and the repeat-associated non-AUG (RAN)-initiated translation of potentially toxic proteins. Such molecular mechanisms contribu

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… HNRNP A2/B1 also mediates the indirect interaction between CGG repeats and CUGBP1 involved in myotonic dystrophy type 1 (DM1). Overexpression of CUGBP1 suppresses the FXTAS phenotype in Drosophila . … Lastly, both expansions in FMR1 and DM1 display maternal anticipation/expansion, giving rise to distinct phenotypes (namely, FXS in FMR1 and congenital myotonic dystrophy type 1 in DMPK) and to DNA hypermethylation. …

Interventions for dysphagia in long-term, progressive muscle disease.

BACKGROUND: Normal swallowing function is divided into oral, pharyngeal, and oesophageal phases. The anatomy and physiology of the oral cavi … ravenous immunoglobulin therapy in adults with IBM and lip-strengthening exercises in children with myotonic dystrophy type 1. Headaches affected two participants treated with long-term intravenous immunoglobulin therapy, who received a tailored dose reduction; there were no adverse events associated with lip-strengthening exercises. Both non-randomised studies iden …

A Practical Approach to Managing Patients With Myasthenia Gravis-Opinions and a Review of the Literature.

When the diagnosis of myasthenia gravis (MG) has been secured, the aim of management should be prompt symptom control and the induction of remission or minimal manifestations. Symptom control, with acetylcholinesterase inhibitors such as pyridostigmine, is commonly employed. This may be sufficient in mild disease. There is no single universally accepted treatment regimen. Corticosteroids are the mainstay of immunosuppressive treatment in patients with more than mild MG to induce remission. Immunosuppressive therapies, such as azathioprine are prescribed in addition to but sometimes instead of

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… Fatigue is not unique to MG but is also prevalent in other neuromuscular disorders such as different types of muscular dystrophy and myotonic dystrophy (DM1). … Cognitive behaviour therapy plus aerobic exercise training to increase activity in patients with myotonic dystrophy type 1 (DM1) compared to usual care (OPTIMISTIC): study protocol for randomised controlled trial. Trials. (2015) 16:224. 10.1186/s13063-015-0737-7 143. …