Slovo úvodem

prof. MUDr. Ivan Rektor, CSc., FCMA, FANA, FEAN

Neurol. praxi. 2021;22(2):87  

Zriedkavé neuromuskulárne choroby

doc. MUDr. Peter Špalek, PhD.

Neurol. praxi. 2021;22(2):91-92 | DOI: 10.36290/neu.2020.122  

Rare diseases and the Orphanet

MUDr. Gabriela Hrčková

Neurol. praxi. 2021;22(2):93-99 | DOI: 10.36290/neu.2021.029  

The history of rare diseases (RDs) dates back to the Middle Ages. At that time, RDs were rather described as "uncommon" phenotypes, somatic or biochemical. "Strange" clinical pictures that were observed repeatedly were thought to have a hereditary component firstly in the 19th century. To date, approximately 6 000 different RDs are known, and although they occur individually in a small number of patients, they affect together 3.5-5.9 % population worldwide. Most of them are genetically determined and the rapid development of molecular diagnostic methods has accelerated the identification of pathogenic, disease-causing variants. Research has also moved...

Limb-girdle muscular dystrophies

doc. RNDr. Lenka Fajkusová, CSc., Mgr. Jana Zídková, Ph.D.

Neurol. praxi. 2021;22(2):100-103 | DOI: 10.36290/neu.2020.107  

Limb-Girdle Muscular Dystrophies (LGMD) are a clinically and genetically heterogeneous group of diseases. To date, 29 genes associated with LGMD have been identified that divide LGMD into 29 subtypes. About 10 % of LGMD have a dominant type of inheritance, 90 % of LGMD have a recessive type of inheritance. The individual LGMD subtypes do not share a common pathophysiological mechanism of the disease that would distinguish them from other forms of muscular dystrophies. On the contrary, LGMD are associated with genes whose protein products have different functions and cellular localizations. Due to the number of associated genes, molecular genetic diagnosis...

Orphan drugs in treatment of rare neuromuscular disorders

doc. MUDr. Peter Špalek, PhD.

Neurol. praxi. 2021;22(2):104-112 | DOI: 10.36290/neu.2020.119  

Rare disorders (RD) are a group of heterogeneous disorders in relation to their etiology, severity and geographical occurrence. RD are defined by the limit of their maximal prevalence in population, which has been fixed in Europe by 5 persons out of 10 000 inhabitants. Inherited and autoimmune neuromuscular disorders (NMD) belong to largest groups of RD. Current options of immunotherapy significantly improved the prognosis of rare autoimmune NMD. In myasthenia gravis at certain situations (refractory MG; treatment side effects) some new treatment options are available - complement inhibitors (eculizumab), B-cell directed therapy (rituximab) and neonatal...

Spinal muscular atrophy - first experiences with nusinersen therapy in Slovakia

MUDr. Miriam Kolníková, PhD., MUDr. Karin Viestová, MUDr. Patrícia Balážová, MUDr. Katarína Okáľová, PhD., MUDr. Eva Trúsiková, MUDr. Eva Lazarová, MUDr. Jaroslav Čižmár

Neurol. praxi. 2021;22(2):114-120 | DOI: 10.36290/neu.2020.120  

Spinal muscular atrophy (SMA) is a motor neuron disorder due to SMN protein deficiency. Up to 95 % of cases are the homozygous deletion in the SMN1 gene located in the 5q13 region. The characteristic feature of the disease is predominantly proximal muscle weakness and the normal intellect of children. In 2017 was nusinersen approved for SMA therapy, it is a member of the antisense nucleotide family. Nusinersen was administered in Slovakia in August 2018 and so far, 43 patients of all SMA types have been treated in three centers: Bratislava, Banská Bystrica and Košice.

MuSK antibody positive myasthenia gravis - our experience

doc. MUDr. Peter Špalek, PhD., MUDr. Ivan Martinka, PhD., MUDr. Štefan Kečkeš

Neurol. praxi. 2021;22(2):121-127 | DOI: 10.36290/neu.2020.109  

Myasthenia gravis (MG) is a rare autoimmune disease of the neuromuscular junction manifested by pathological fatigue and muscle weakness of fluctuating intensity. MG is a heterogeneous disease. The MG subtypes are very rare, differ in their etiopathogenetic mechanism, age at onset and responsiveness to treatment. Anti-MuSK positive MG is a rare MG subtype with 2-4 % ratio of all MG forms. The etiopathogenetic basis of anti-MuSK positive MG is the production of antibodies against muscle-specific kinase (MuSK). As a result of anti-MuSK autobodies production the neuromuscular junction (NMJ) regeneration is impaired, acetylcholine receptor (AChR) density...

Early diagnosis and treatment of multiple sclerosis

MUDr. Marek Peterka, MUDr. Pavel Potužník

Neurol. praxi. 2021;22(2):128-131 | DOI: 10.36290/neu.2021.003  

Multiple sclerosis is a chronic autoimmune disease of the central nervous system requiring early diagnosis and treatment. Currently, there is no specific test to confirm the diagnosis of multiple sclerosis. Therefore, the diagnostic process continues to be based on three main principles: clinical analysis compatible with the diagnosis (type of symptoms, their progression in time, the person's age and sex, etc.), evidence of process dissemination in time and space, and exclusion of alternative diagnoses. Given the importance of early diagnosis, the diagnostic criteria were revised in 2017, again highlighting the importance of detecting intrathecal oligoclonal...

Current role of evoked potentials in multiple sclerosis diagnostics and monitoring

MUDr. Václav Boček, Ph.D.

Neurol. praxi. 2021;22(2):132-138 | DOI: 10.36290/neu.2020.091  

Evoked Potentials (EP) represent relatively sensitive but less specific method in particular central nervous subsystems lesions diagnostics. Although the method does not bring additional value to prove Dissemination in Space (DIS), their indication might be helpful in multiple sclerosis (MS) patients. This article aims to provide an overview of commonly used EP modalities in the settings of MS (visual, somatosensory, motor, brain stem acoustic) regarding to the diagnostics and monitoring of disease course of particular MS forms. Somatosensory (SEP) and Motor (MEP) EP are the most sensitive methods in diagnostics of conduction abnormity relevant to...

Current availability of comprehensive neurorehabilitation services for multiple sclerosis patients

Mgr. Klára Novotná, Ph.D., Mgr. Lucie Suchá

Neurol. praxi. 2021;22(2):139-142 | DOI: 10.36290/neu.2020.088  

Comprehensive rehabilitation treatment (physiotherapy, psychotherapy, occupational therapy) plays an important role in multiple sclerosis patients since the beginning of the disease. Unfortunately, patients reporting a more difficult access to non-pharmacological rehabilitation therapy can still be encountered in the clinical practice. The present questionnaire survey deals with the current availability of comprehensive rehabilitation care of multiple sclerosis patients in the year 2020.

The Kiloh-Nevin syndrome

MUDr. Matej Halaj, doc. MUDr. Ondřej Kalita, Ph.D., MBA, MUDr. Martin Hampl, Ph.D., MUDr. Jakub Jablonský, prof. MUDr. Lumír Hrabálek, Ph.D., doc. MUDr. Miroslav Vaverka, CSc., MUDr. Tomáš Vodvářka

Neurol. praxi. 2021;22(2):143-146 | DOI: 10.36290/neu.2020.017  

Authors would like to present a case of an uncommon entrapment syndrome of the anterior antebrachial interosseal nerve ("The Kiloh-Nevin syndrome). Patient was first examined by an ambulatory neurologist. EMG verified minimal neuropathic finding of the median nerve and clinical presentation first lead to the diagnosis of carpal tunnel syndrome. After a neurosurgical consult on the authors departement we found the corresponding clinical presentation misleading including the EMG presentation. Newly recommended EMG uncovered anterior antebrachial interosseal nerve neuropathy (Kiloh-Nevin syndrome). After a failed conservative therapy, patient underwent...

Spontaneous subdural hematoma as a rare complication of neuraxial anaesthesia

MUDr. Veronika Kissiová

Neurol. praxi. 2021;22(2):147-150 | DOI: 10.36290/neu.2020.015  

We come across with patients after lumbar puncture and neuraxial anesthesia athwart many disciplines. Among the most frequent complications of these procedures are post-operative cephalea, whereas subdural hematoma is one of its rarest complications with a potentially severe or even lethal impact. Given the same resp. a similar manifestation of the two diagnoses there may often be a delay in the recognition of SDH and its treatment, eventually to its overlooking. This diagnosis should be considered with prolonged headaches unresponsive to classical analgesic treatment, loss of binding to the orthostatic position, prospectively associated paresis of...

Primary headache associated with sexual activity

MUDr. Alexandra Jankovič, MUDr. Adam Pavličko, MUDr. Jolana Marková, FEAN

Neurol. praxi. 2021;22(2):151-154 | DOI: 10.36290/neu.2020.039  

Headache associated with sexual activity is an interesting clinical entity classified among primary headaches. In terms of clinical practice, it is important to distinguish it from secondary headaches that may represent a serious to life-threatening condition for the patient. We present four case reports which were used to study the diagnostic procedures, auxiliary examinations, relevant medical history data, applied therapy, and diagnostic conclusions. Each patient with a sudden-onset headache should undergo a CT or MRI scan including visualization of the vascular bed and analysis of cerebrospinal fluid. Primary headache associated with sexual activity...

Cerebellar ataxia and stiff person syndrome in patient with anti-GAD antibodies

MUDr. Zuzana Dean, MUDr. Branislav Veselý, PhD.

Neurol. praxi. 2021;22(2):158-160  

Anti-GAD-antibody-associated neurological conditions are typically seen in young or middle-aged females and are often associated with other autoimmune disorders. We report a patient with anti-GAD associated ataxia, in whom symptoms of stiff person syndrome (SPS) as well as diabetes mellitus type 1 (IDDM) and hypothyroidism followed 2.5 years after diagnosis.

Diagnostikujeme chronickou migrénu správně?
Ano / Ne

MUDr. Petra Migaľová, MUDr. Pavel Řehulka, Ph.D.

Neurol. praxi. 2021;22(2):161-165 | DOI: 10.36290/neu.2021.031  

Bitalamické lézie pri parciálnom status epilepticus

MUDr. Zuzana Dean, MUDr. Miroslava Kotrusová, MBA, MUDr. Mária Hladká

Neurol. praxi. 2021;22(2):156-157 | DOI: 10.36290/neu.2021.030  

Prof. MUDr. Jan Roth, CSc., šedesátiletý

Evžen Růžička

Neurol. praxi. 2021;22(2):166