Slovo úvodem

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

Neurol. praxi. 2019;20(3):163  

Svalové dystrofie – slovo úvodem

MUDr. Radim Mazanec, Ph.D. – editor hlavního tématu

Neurol. praxi. 2019;20(3):169  

Muscular dystrophy in childhood

MUDr. Jana Haberlová, Ph.D.

Neurol. praxi. 2019;20(3):171-178 | DOI: 10.36290/neu.2019.110  

Muscular dystrophies are a heterogeneous group of inherited rare disorders that is characterized by progressive muscular weakness and a dystrophic pattern in muscular biopsy. As these disorders are inherited, the first symptoms typically appear during childhood. In the last few years, mainly due to the new genetic possibilities, this area is changing. There is an increase of diagnostic clarity (in our Centre it is more than 90 %) and an improvement in symptomatic care; and due to this, an increase of life expectancy and quality of life. Now, there are the first possibilities of causal therapy. In the article there is a description of the most common...

Duchenne muscular dystrophy

MUDr. Lenka Juříková, MUDr. Zdeňka Bálintová, MUDr. Jana Haberlová, Ph.D.

Neurol. praxi. 2019;20(3):180-182 | DOI: 10.36290/neu.2019.111  

Duchenne/Becker muscular dystrophy, caused by mutations in dystrophin gene,is one of the most frequent muscular dystrophies. Firstsymptoms of DMD include delayed motor milestones, difficult running or climbing stairs. Boys with DMD use the Gower´s maneuver toarise from floor. Cardiomyopathy and respiratory failure most often occur in the third decade. Diagnostical process is based on clinicalpicture, blood tests results (esp. elevated CK) and confirmation on molecular genetic base. Treatment aims to control symptoms. New drugsin clinical practice as well as in clinical trials together with better multidisciplinary care can prolong...

Muscular dystrophy of adult age

MUDr. Petr Ridzoň, MUDr. Kateřina Matějová, MUDr. Adéla Škvorová

Neurol. praxi. 2019;20(3):183-189 | DOI: 10.36290/neu.2019.112  

Muscle dystrophies are progressive, hereditary diseases which are characterized by not fluctuating, chronic and (mostly) painless weakness of groups of muscles and their atrophies. They can manifest in childhood or in adult age. These diseases are rare with overlapping clinical pictures and similar phenotypes and their diagnostics is complicated, mostly performed in the neuromuscular centers. The most common muscular dystrophies should be recognized by each neurologist. Dystrophinopathies, myotonic dystrophies, facioscapulohumeral muscular dystrophy and limb girdle dystrophies are the most common dystrophies of adult age. Some dystrophies with characteristic...

Diagnostics algorithm of muscular dystrophies

MUDr. Radim Mazanec, Ph.D., MUDr. Lívie Mensová, MUDr. Daniel Baumgartner, MUDr. Veronika Potočková, prof. MUDr. Josef Zámečník, Ph.D.

Neurol. praxi. 2019;20(3):190-194 | DOI: 10.36290/neu.2019.017  

The diagnostics algorithm of muscular dystrophies has changed significantly over the past decade, mainly due to the development and increase of availability of molecular genetics and imaging methods. The golden standard of detailed medical history, attentive clinical examination, biochemical and electrophysiological testing now includes also magnetic resonance imaging and targeted or more extensive molecular genetic examinations, while muscle biopsy ceased to be the first choice method in the diagnostic process of hereditary myopathies. Routine MRI performance in patients with muscle. dystrophies allowed the detection and description of patterns of...

Internal complications of muscular dystrophies

MUDr. Jana Junkerová, MUDr. Katarína Reguliová, MUDr. Jana Horáková, MUDr. Iva Procházková, MUDr. Marcel Heczko

Neurol. praxi. 2019;20(3):196-200 | DOI: 10.36290/neu.2019.010  

Circulation and breathing, as the basic life functions, are mediated by muscles. Myocardium, as well as the conduction system ofthe heart and the respiratory muscles are affected in myopathy. In the overview we present myopathies often manifesting withcardiorespiratory insufficiency. We discuss pathophysiological background of these changes, their clinical manifestations andoptions of early diagnosis and treatment.

New treatment options for pediatric patients with multiple sclerosis

doc. MUDr. Jarmila Szilasiová, PhD.

Neurol. praxi. 2019;20(3):201-203 | DOI: 10.36290/neu.2019.050  

Multiple Sclerosis (MS) in children represents approximately 5 % of all MS patients. Although the etiopathogenesis of this autoimmune disease is not clearly elucidated, genetic and environmental risk factors for the development of SM in children (obesity, smoking, D vitamin deficiency) are known. The pediatric form of MS is mostly manifested as a relapsing-remitting form. Treatment of the disease includes, in addition to treating relapses, immunomodulatory and symptomatic treatment. For active forms, treatment with DMT (Disease- modifying therapy) is a treatment that affects the course of the disease. Over the past decade, there has been a significant...

Depression and migraine: what do they have in common?

MUDr. Sylva Racková, Ph.D.

Neurol. praxi. 2019;20(3):208-213 | DOI: 10.36290/neu.2019.114  

Depression and migraine are both very frequent disorders. Patients suffering from migraine develop twice often depression andpatient s with depressive disorder suffer more frequent with migraine. Comorbitiy of those both disorders is associated withworse course, more frequent chronification and is associated with decreased treatment response. Coindidence of migraine anddepression is associated with decreased quality of life and increased suicidality. Antidepressant medication proved to be efectivein the treatment of depression and migraine type headeache.

Treatment of depressive disorders in pain syndromes

MUDr. Martin Hýža

Neurol. praxi. 2019;20(3):214-218 | DOI: 10.36290/neu.2019.115  

Comorbidity of depressive disorder and chronic pain is very common in clinical practice. It is connected to worse prognosis andmore severe symptoms of both of them. A recognition of depressive disorder is the most important as it is often manifested withsomatic symptoms only. Common neurobiological mechanisms clarify the effectivity of antidepressants and psychotherapy intreatment of pain. Both noradrenergic and serotonergic effect is needed for analgesic effect, so the older tricyclic antidepressantsand newer dual antidepressants SNRI are used.

Quality of life in patients with Parkinson´s disease in the Slovak Republic

RNDr. Vladimír Meluš, PhD., PhDr. Nikoleta Poliaková, PhD., doc. MUDr. Ján Bielik, CSc., PhDr. Simona Lipovská

Neurol. praxi. 2019;20(3):219-224 | DOI: 10.36290/neu.2019.116  

Goal: The goal of the study was to determine the quality of life (QoL) of patients with Parkinson's disease and their work ability(WA) in relation to certain demographic, clinical and social-economical parameters.Sample and methods: The research used an original patient questionnaire predominantly based on an evaluation using a numericalscale. QoL and WA were assessed by patients retrospectively in time of diagnosis, in time without disease, and in timeof so-called full-health. The results were processed and evaluated using descriptive statistics, Friedman's and Dunn's test. Thecorrelation rates between variables were...

Administration of botulinum toxin into piriformis muscle under ultrasound guidance

MUDr. Tomáš Gescheidt, Ph.D., MUDr. Eduard Minks, Ph.D.

Neurol. praxi. 2019;20(3):228-232 | DOI: 10.36290/neu.2019.118  

The administration of botulinum toxin into the piriformis muscle is one of the treatment options for piriformis syndrome. This relatively controversial clinical entity involves symptoms explained by an increased tone of the piriformis muscle, with some of them being related to the close anatomical relationship of this muscle with the sciatic nerve. Physiotherapy and lifestyle measures, followed by the use of analgesics and muscle relaxants, play an important role in treating piriformis syndrome; in the case of failure of a previous treatment, the administration of a local anaesthetic or botulinum toxin is considered. In order to precisely target the...

Ocrelizumab, clinical aktivity and progression – long-term data

MUDr. Zbyšek Pavelek, Ph.D., doc. MUDr. Martin Vališ, Ph.D.

Neurol. praxi. 2019;20(3):204-207 | DOI: 10.36290/neu.2019.113  

Multiple sclerosis is a chronic inflammatory demyelinating disease which affect central nervous system. Treatment options in multiplesclerosis have expanded considerably in the recent years. This article deals with new data about clinical activity, influencingof disease progresion among patients treated with ocrelizumab.

Právní poradna

Neurol. praxi. 2019;20(3):235  

Neurozobrazovací kazuistika

MUDr. Lívie Mensová, MUDr. Radim Mazanec, Ph.D., MUDr. Marcela Dvořáková, MUDr. Martin Kynčl

Neurol. praxi. 2019;20(3):225-226 | DOI: 10.36290/neu.2019.117  

Radim Mazanec šedesátiletý

doc. MUDr. Edvard Ehler, CSc., FEAN

Neurol. praxi. 2019;20(3):238  

Claude Bernard (12. 7. 1813–10. 2. 1878)

MUDr. Jana Doláková

Neurol. praxi. 2019;20(3):236-237  

Dopisy redakci

Neurol. praxi. 2019;20(3):233-234