Myoklonus

prof. MUDr. Michal Minár, PhD. – editor hlavního tématu

Neurol. praxi. 2026;27(4):256

Myoclonus - basic orientation for clinical practice

MUDr. Ján Necpál, PhD., MUDr. Orest Shabatiuk

Neurol. praxi. 2026;27(4):263-267 | DOI: 10.36290/neu.2026.039

Myoclonus, belonging to the group of hyperkinetic movement disorders, is manifested by short and rapid muscle jerks, caused by their active contraction, or by a sudden loss of muscle activity. Myoclonus is caused by a number of different causes, which may have different anatomical correlates. However, a detailed history, clinical examination, neuroimaging methods and knowledge of neurophysiological testing can often narrow the diagnostic perimeter to a specific disease and thus significantly accelerate the diagnostic process. Within this framework, it is always necessary to first think about the exclusion of potentially reversible causes.

The role of neurophysiology in the diagnosis of myoclonus

prof. MUDr. Michal Minár, PhD.

Neurol. praxi. 2026;27(4):268-272 | DOI: 10.36290/neu.2026.047

Myoclonus represents a heterogeneous group of hyperkinetic disorders characte­rized by sudden, brief muscle jerks. Precise classification according to the generator (cortical, subcortical, spinal, peripheral, or functional) is crucial for both diagnosis and treatment; however, clinical differentiation is often challenging. Diagnosis becomes even more complicated when myoclonus occurs in conjunction with another hyperkinetic disorder, for example in cervical dystonia or in typical or atypical parkinsonian syndromes. Electrophysiological methods, particularly polymyography (poly-EMG), electroencephalography (EEG), somatosensory evoked potentials (SSEP),...

Myoclonus - treatment: from rational pharmacotherapy to deep brain stimulation

doc. MUDr. Marek Baláž, Ph.D., MUDr. Pavel Ressner, Ph.D., prof. MUDr. Jan Chrastina, Ph.D., MUDr. Jonáš Kunst

Neurol. praxi. 2026;27(4):273-277 | DOI: 10.36290/neu.2026.051

The basis of successful myoclonus treatment lies in diagnosing the underlying causes, particularly ruling out drug-induced forms and metabolic disorders. The mainstays of symptomatic therapy are levetiracetam, valproate, and clonazepam, often in combination, while in drug-resistant cases, particularly in myoclonic dystonia, deep brain stimulation (DBS), most commonly targeting the globus pallidus internus, represents a significant therapeutic alternative. In focal forms, long-term therapy involves the administration of botulinum toxin.

Functional jerks: diagnosis, communication of the diagnosis, and treatment

doc. MUDr. Tereza Serranová, Ph.D.

Neurol. praxi. 2026;27(4):278-283 | DOI: 10.36290/neu.2026.048

Functional jerks (myoclonus) are among the less common subtypes of functional movement disorders and manifest as rapid, mostly paroxysmal involuntary movements. They may be spontaneous, present at rest, triggered by action, or elicited by external stimuli; they preferentially affect the trunk, limbs, and neck. The diagnosis is based primarily on positive signs of inconsistency of the jerks, such as variability in the pattern of muscle activation, duration, and triggering factors, and on neurophysiological evidence of cortical correlates preceding the jerks in EEG-EMG back-ave­raging studies. In treatment, the key elements are delivering a positive...

Getting the diagnosis right in adults with childhood-onset epileptic encephalopathies: Lennox-Gastaut and Dravet syndromes-lessons from clinical practice

MUDr. Lucia Šmahovská, MUDr. Jitka Kočvarová, MUDr. Ondřej Strýček, Ph.D., MUDr. Klára Štillová, Ph.D., prof. MUDr. Milan Brázdil, Ph.D., doc. MUDr. Irena Doležalová, Ph.D.

Neurol. praxi. 2026;27(4):284-290 | DOI: 10.36290/neu.2026.055

Dravet syndrome (DS) and Lennox-Gastaut syndrome (LGS) belong to the most severe developmental and epileptic encephalopathies, characterized by early onset, a lifelong disease course, and a high degree of drug-resistance. Both syndromes are associated with substantial cognitive, behavioral, and functional impairment, as well as an increased risk of serious complications. In recent years, syndrome-specific therapeutic options have expanded considerably. For both DS and LGS, fenfluramine and cannabidiol have become available as targeted treatment options, demonstrating remarkable efficacy in randomized clinical trials. The aim of this review is to summarize...

Mild cognitive impairment in the era of biological therapy: the importance of early intervention

MUDr. Jiří Cerman, Ph.D., MUDr. Ing. Klára Knápková, prof. MUDr. Jakub Hort, Ph.D., FEAN

Neurol. praxi. 2026;27(4):291-294 | DOI: 10.36290/neu.2026.049

Mild cognitive impairment (MCI) is a heterogeneous clinical syndrome that is currently gaining attention due to the advent of new biological treatments for Alzheimer's disease. Although these therapies open up new possibilities for causal intervention, their use in real-world practice remains limited to a relatively narrow group of patients for whom this treatment is appropriate. This article summarizes current options for the management of MCI in routine clinical practice and focuses primarily on rational approaches to early intervention in patients who are not candidates for biologic therapy.

Tuberous sclerosis complex - neurological aspects, diagnosis and modern treatment

MUDr. Jan Kubek, MUDr. Eva Březinová, Ph.D., MUDr. Edita Marvanová, MUDr. Marta Pažourková, doc. MUDr. Irena Doležalová, Ph.D.

Neurol. praxi. 2026;27(4):295-302 | DOI: 10.36290/neu.2026.050

Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem disorder caused by mutations in the TSC1 and TSC2 genes. The disease is characterized by the formation of hamartomatous lesions in various organs, particularly the central nervous system, skin, kidneys, heart, and lungs. Neurological manifestations may represent a major determinant of morbidity and long-term prognosis. The most common neurological manifestation is epilepsy, which occurs in up to 80-90% of patients and is frequently drug-resistant, with a risk of status epilepticus and SUDEP (sudden unexpected death in epilepsy). Neurodevelopmental disorders, autism spectrum disorders,...

Pain management in patients with rheumatic disease

MUDr. Jana Hrubešová

Neurol. praxi. 2026;27(4):303-307 | DOI: 10.36290/neu.2026.030

Pain is one of the most distressing symptoms of revmatology deseasess and, if not properly managed, can significantly reduce a patient's quality of life and limit their functional abilities. Effective pain management should be an essential part of a comprehensive treatment plan for patients with this condition. When standard analgesic treatments are insufficient, minimally invasive techniques may be considered, offering rapid and effective pain relief when appropriately indicated.

When immunology turns into neurology: the case of a patient with common variable immunodeficiency

Matiiash Taras, prof. MUDr. Manuela Vaněčková, Ph.D., MUDr. Marta Vachová

Neurol. praxi. 2026;27(4):308-311 | DOI: 10.36290/neu.2025.043

In the first part of this article, we present a case of a patient with common variable immunodeficiency (CVID), who was admitted to the neurological department of Teplice district hospital due to rapid progression of gait disturbance. Neurological evaluation revealed apparent truncal ataxia and ataxia of the lower limbs, as well as a mild ataxia of the right upper extremity. MRI showed signs of cervical myelopathy, further investigation uncovered a gastric adenocarcinoma as the cause of a paraneoplastic syndrome. The patient's condition improved significantly after gastrectomy and treatment with prednisone. In the second part of the article, we provide...

A rare case of progressive mitochondrial disease in childhood: a case report

MUDr. Stanislava Suroviaková, PhD., MUDr. Adam Markocsy, PhD., MUDr. Matúš Igaz, MUDr. Otília Petrovičová, PhD., MUDr. Vladimír Zoľák, PhD., MUDr. Babeta Hofericová, prof. MUDr. Peter Bánovčin, CSc., prof. MUDr. Miloš Jeseňák, PhD., MBA, Dott. Ric., MHA

Neurol. praxi. 2026;27(4):313-318 | DOI: 10.36290/neu.2025.075

Mitochondrial diseases are caused by dysfunction of mitochondrial DNA or its regulatory mechanisms. Mutations in the POLG gene, encoding mitochondrial DNA polymerase gamma, are the most common genetic cause of these disorders, leading to a broad spectrum of phenotypes. One of the most severe manifestations is Alpers-Huttenlocher syndrome (AHS), characterized by refractory epilepsy, progressive encephalopathy, and hepatic insufficiency. In this article, we present a case study of a 6-year-old female patient with a genetically confirmed homozygous POLG mutation who experienced a sudden onset of focal seizures with rapid neurological deterioration....

Moravia's most famous neuroscientist, psychiatrist, and neuropathologist: Arnold Pick (1851-1924)

prof. MUDr. Petr Kaňovský, CSc., FEAN, prof. MUDr. Kateřina Menšíková, Ph.D., MBA,FEAN, MUDr. Lucie Tučková, prof. MUDr. Radoslav Matěj, Ph.D.

Neurol. praxi. 2026;27(4):321-326

Arnold Pick was born in 1851 into a merchant family in Velké Meziříčí, in the Moravian part of the Bohemian-Moravian Highlands. After completing secondary school in Jihlava, he studied at medical school in Vienna, where his teachers included Meynert, von Brücke, Rokitanský, Škoda, Billroth, von Heber, and other renowned physicians of the Vienna School. After graduation, he worked briefly at the Westphal Clinic in Berlin, and spent two years as a staff physician at the mental health facility in Wehnen. In 1877, he moved to a German psychiatric clinic in Prague, which was located in buildings in Kateřinská Street. In 1880, he was offered a position at...

Jak efektivně převádět pacienty z nízkoúčinných DMT v léčbě roztroušené sklerózy?

Redakce

Neurol. praxi. 2026;27(4):336-338

Adynamická afázie jako projev levostranného paramediánního thalamického iktu

MUDr. Patrik Nejl, MUDr. Jiřina Řezáčová, prof. PaedDr. Zsolt Cséfalvay, PhD., prof. MUDr. Robert Rusina, Ph.D.

Neurol. praxi. 2026;27(4):319-320 | DOI: 10.36290/neu.2026.027

Když se účinnost snoubí s efektivitou. BRIUMVI - nový impuls v léčbě roztroušené sklerózy

MUDr. Zuzana Zafarová

Neurol. praxi. 2026;27(4):328-334