Slovo úvodem

prof. MUDr. Ivan Rektor, CSc.

Neurol. praxi. 2012;13(4):179  

Svalová onemocnění

doc. MUDr. Edvard Ehler, CSc. - editor hlavního tématu

Neurol. praxi. 2012;13(4):182  

Myotonic dystrophies

MUDr.Radim Mazanec, Ph.D., Mgr.Zuzana Mušová, Ph.D.

Neurol. praxi. 2012;13(4):183-187  

The myotonic dystrophies (DM) are primary, progressive and degenerative disorders of skeletal muscles. Besides involvement of skeletal muscles, they cause heart, eyes, endocrine and brain disorders. DM are the most common muscular dystrophies in adults, they cause life shortening and affect quality of life. Main clinical features are myotonia and progressive muscle weakness.The classification distinguishes two main types of DM –myotonic dystrophy type 1 (Steinert´s disease), myotonic dystrophy type 2 (proximal myotonic myopathy, PROMM). A special type of DM1 is congenital myotonic dystrophy. The molecular genetics procedures are the most...

Congenital myopathies

MUDr.Josef Kraus, CSc., assoc.prof.Jiří Vajsar MD, MSc, FRCPC, doc.MUDr.Josef Zámečník, Ph.D.

Neurol. praxi. 2012;13(4):188-194  

The congenital myopathies are defined by distinctive morphologic abnormalities in skeletal muscle. Over the past decade there have been major advances in uncovering the genetic basis of many congenital myopathy subtypes. Identification of the disease genes, in combination with better understanding of the molecular mechanisms is now providing insights into disease pathogenesis. It further provides basis for the development of new procedures and, for the first time, it suggests avenues for the development of specific therapies.

Congenital muscular dystrophies

assoc.prof.Jiří Vajsar MD, MSc, FRCPC, MUDr.Josef Kraus, CSc.

Neurol. praxi. 2012;13(4):195-197  

Congenital muscular dystrophies are genetic muscle diseases. They present with early hypotonia and muscle weakness. The muscle biopsy is characterized by dystrophic or myopathic changes. There are several subtypes of congenital muscular dystrophy. The vast majority of the diagnoses are confirmed by molecular testing or by immunohistochemistry. Treatment is symptomatic, interdisciplinary. Genetic counselling should be available for teenagers and families.

Rhabdomyolysis

doc.MUDr.Peter Špalek, PhD.

Neurol. praxi. 2012;13(4):198-203  

Rhabdomyolysis, a syndrome of skeletal muscle breakdown with leakage of muscle contents, is frequently accompanied by myoglobinuria, and if sufficiently severe, acute renal failure with potentially life-threatening metabolic derangements may ensue. Rhabdomyolysis is caused by a diverse spectrum of inherited and acquired disorders affecting muscle membranes, membrane ion channels and muscle energy supply. The commmon final pathophysiological mechanisms of all causes of rhabdomyolysis is an uncontrolled rise in free intracellular calcium and activation of calcium-dependent proteases leading to destruction of myofibrils and lysosomal digestion...

Inflammatory myopathies

doc.MUDr.Edvard Ehler, CSc., doc.MUDr.Josef Zámečník, Ph.D.

Neurol. praxi. 2012;13(4):204-209  

Inflammatory myopathies represent a heterogennic group of acquired myopathies, which have an inflammatory cause. Idiopathic inflammatory myopathies have the most frequent occurrence and they are differentiated by a course, occurrence of associated diseases, by treatment effect and by findings in muscle biopsy. Myopathies in systemic diseases, vasculitides, viral, bacterial, fungal and parasitary infectious diseases have an inflammatory cause too. In the following paper we present overview of basic inflammatory myopathies with emphasis on the clinical characteristics and muscle biopsy findings.

Assessing quality of life of patients with multiple sclerosis

MUDr.Ema Kantorová, Ph.D., prof.MUDr.Egon Kurča, Ph.D., MUDr.Jozef Michalik

Neurol. praxi. 2012;13(4):211-214  

Multiple sclerosis is a chronic inflammatory and degenerative disease of the central nervous system, usually affecting young adult individuals in the productive age. Multiple sclerosis is among the diseases that significantly reduce the quality of life of patients, thus principally affecting the lives of whole families. Therefore, from a medical point of view, assessment of quality of life of patients is an important part of the therapeutic management of patients and often even determines a change in the treatment strategy. Pharmacoeconomic issues are another important aspect of the treatment of patients with multiple sclerosis.

Genetic testing in idiopathic epileptic syndromes and epileptic encephalopathies - part I

MUDr.Hana Krijtová, doc.MUDr.Petr Marusič, Ph.D.

Neurol. praxi. 2012;13(4):216-218  

Molecular genetic diagnostic methods have recently very quickly advanced, their yield has simultaneously increased and the cost decreased. Both physicians and common population have become more aware of possible genetic reasons for epilepsy and demands for genetic testing of patients with epilepsy have increased too. But despite the progress in identification of genes contributing to different epileptic syndromes the utility of genetic tests in clinical epileptology is often controversial. In genetic counselling physicians should be familiar not only with the mode of inheritance of disorders, but must be also aware of frequent genetic and phenotype...

Migraine or epilepsy - an outpatient paediatric neurologist’s dilemma

doc.MUDr.Radomír Šlapal, CSc.

Neurol. praxi. 2012;13(4):219-220  

The author discusses the pitfalls of differential diagnosis between migraines, particularly those with aura, and idiopathic focal (partial) epilepsies, particularly benign, age-related ones. These diagnoses are among the most common in the outpatient practice of a paediatric neurologist. The author points out to the similarity of both entities in terms of medical history data, clinical presentations, and normal results of auxiliary examinations, including structural brain imaging, and highlights the similar therapeutic strategies and prognostic aspects. EEG remains a decisive examination tool for distinction; nevertheless, correct interpretation...

Non-paraneoplastic limbic encephalitis with positivity of anti-LGI1 antibodies

MUDr.Irena Doležalová, doc.MUDr.Robert Kuba, Ph.D., MUDr.Klára Musilová, doc.MUDr.Tomáš Kašpárek, Ph.D., prof.MUDr.Milan Brázdil, Ph.D., prof.MUDr.Ivan Rektor, CSc.

Neurol. praxi. 2012;13(4):221-224  

Limbic encephalitis (LE) is a condition affecting the limbic system that typically presents with memory disorders, with recent memory being most affected; concurrently, epileptic seizures and psychiatric symptoms can occur. Paraneoplastic limbic encephalitis (PLE) and non-paraneoplastic limbic encephalitis (NLE) are distinguished. Recently, an association of NLE with anti-LGI1 antibodies has been described. We report a case of a 45-year-old female patient with LE and positivity of anti-LGI1 antibodies. The differential diagnosis and treatment of this disease are also discussed.

Forgetfulness and walking difficulties with a surprising conclusion

MUDr.Robert Rusina, Ph.D., Mgr.Silvie Johanidesová, doc.MUDr.Iva Holmerová, Ph.D., MUDr.Martin Mašek, MUDr.Radoslav Matěj, Ph.D.

Neurol. praxi. 2012;13(4):225-228  

We report a case of rapidly progressive dementia and Parkinsonism; the clinical diagnosis concluded to mixed dementia (Alzheimer’s disease and vascular dementia). Neuropathologic findings, however, showed surprisingly a diffuse anaplastic astrocytoma with areas of glioblastoma. We discuss the principal atypical clinical features in our patient and suggest possible reasons that might have been involved into the discrepancies between clinical conclusions and the definite histopathological diagnosis. Our observation underlines the need for confrontations of clinical signs and neuroimaging findings and strengthens the importance of neuropathological...

prof. MUDr. Zdeněk Kadaňka, CSc. - sedmdesátiletý

Josef Bednařík

Neurol. praxi. 2012;13(4):236  

Cervikální myelopatie: neoperovat či operovat?

prof. MUDr. Zdeněk Kadaňka, CSc., doc. MUDr. Miroslav Vaverka, CSc.

Neurol. praxi. 2012;13(4):229-232  

Medical history and its legal pitfalls

JUDr.Jan Vondráček, JUDr.MUDr.Lubomír Vondráček, Mgr.Zuzana Volejniková

Neurol. praxi. 2012;13(4):237-238  

The authors discuss the rights and the responsibilities of the patient and the attending staff in relation to history-taking.