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Vysetřeni vedeni perifernim nervem, neboli neurografie (kondukcni studie) je zakladni elektromyografickou technikou k posouzeni leze perifernich nervů (neuropatie v sirsim slova smyslu). Vysetřujeme motoricka a silně myelinizovana senzitivni vlakna. Metoda umožni stanovit stupeň a typ postiženi (motoricke, senzitivni a take axonalni ci demyelinizacni). K vysetřeni vedeni jsou vhodne polyneuropatie vsech etiologii (metabolicke, malnutricni, toxicke, hereditarni, zanětlive, paraneoplasticke) i mononeuropatie (kompresivni, traumaticke, zanětlive), dale nejasne nalezy, nebo kombinovane leze centralni a periferni, kde je nutne upřesnit podil připadne polyneuropatie. Při technice repetitivni stimulace se použiva stimulace perifernich motorických nervů opakovaně v urcite frekvenci a jeji provedeni je přinosne při podezřeni na poruchu nervosvaloveho spojeni. Pochopeni zakladnich principů elektromyografie, spravna indikace k vysetřeni a dobře položena otazka je předpokladem spravně provedeneho vysetřeni s validni a pro klinickeho neurologa užitecnou odpovědi (nalezem).

Some lesions of the peripheral nerves caused by physical factors can, under certain conditions, be acknowledged as an occupational dis¬ease. The decision whether it is an occupational dis¬ease or not is authorized by the “Centre of occupational dis¬eases”. Neurological consultants have a very important role in the process of acknowledgement of an occupational dis-ease. Dur¬¬ing the last 20 years, disorders of neurological character represented 29.6% of all occupational dis-eases. At the same time, the lesions of the peripheral nerves due to overload or vibration constituted 98.5%. Carpal tun¬nel syndrome is most frequent, fol¬lowed less often by an ulnar nerve lesion in the elbow, and rarely by an ulnar nerve lesion in the wrist and hand – the Guyon’s chan¬nel. In the development of occupational compres¬sive neuropathies, various mechanisms take place: mechanical pres¬sure, hand overload, transmis¬sion of vibration on the upper extremity, cold, inappropriate position dur¬¬ing work, and other factors. For acknowledgement of occupational origin of such a lesion, it is es¬sential to determine clinical signs and symp¬toms, and EMG examination cor¬respond¬¬ing to at least the moderately severe lesion. Anamnestic, clinical, and EMG characteristics includ¬¬ing electrophysiological parameters of a moderately severe lesion for the median and ulnar nerves were defined.

Svalove dystrofie jsou progresivni hereditarni onemocněni, pro ktere je charakteristicke nekolisave, chronicke a (větsinou) nebolestive oslabeni svalových skupin a jejich atrofie. Můžou se projevit v dětstvi nebo v dospělosti. Jde o onemocněni vzacna s překrývajicimi se obrazy a podobnými fenotypy a jejich diagnostika je narocna, větsinou odkazana na neuromuskularni centra. Některe nejběžnějsi dystrofie by ale měl poznat každý neurolog. Nejcastějsi dystrofie dospěleho věku jsou dystrofinopatie, myotonicke dystrofie, facioscapulohumeralni dystrofie, pletencove myopatie. Vzhledem k tomu, že některe dystrofie s charakteristickým fenotypem lze relativně snadno diagnostikovat (facioscapulohumeralni, myotonicka dystrofie typ 1), je v clanku popsana problematika těch nejcastějsich svalových dystrofii. Kromě diagnostiky je ovsem důležita i nasledna pece – monitorace postiženi přidružených systemů (srdce, oci, endokrinni, plice), geneticke poradenstvi a řeseni socialnich problemů spojených s nemoci – to je pece, kterou je schopen nabidnout každý neurolog.

Background: The pleomorphic clinical presentation makes the diagnosis of desminopathy difficult. We aimed to describe the prevalence, phenotypic expression, and mitochondrial function of individuals with putative disease-causing desmin (DES) variants identified in patients with an unexplained etiology of cardiomyopathy. Methods: A total of 327 Czech patients underwent whole exome sequencing and detailed phenotyping in probands harboring DES variants. Results: Rare, conserved, and possibly pathogenic DES variants were identified in six (1.8%) probands. Two DES variants previously classified as variants of uncertain significance (p.(K43E), p.(S57L)), one novel DES variant (p.(A210D)), and two known pathogenic DES variants (p.(R406W), p.(R454W)) were associated with characteristic desmin-immunoreactive aggregates in myocardial and/or skeletal biopsy samples. The individual with the novel DES variant p.(Q364H) had a decreased myocardial expression of desmin with absent desmin aggregates in myocardial/skeletal muscle biopsy and presented with familial left ventricular non-compaction cardiomyopathy (LVNC), a relatively novel phenotype associated with desminopathy. An assessment of the mitochondrial function in four probands heterozygous for a disease-causing DES variant confirmed a decreased metabolic capacity of mitochondrial respiratory chain complexes in myocardial/skeletal muscle specimens, which was in case of myocardial succinate respiration more profound than in other cardiomyopathies. Conclusions: The presence of desminopathy should also be considered in individuals with LVNC, and in the differential diagnosis of mitochondrial diseases.

Uvod: Prevalence Martin-Gruberovy anastomozy (MGA), spojky n. medianus a ulnaris na předlokti se uvadi v rozmezi 15– 39 %. Existuji tři různe typy MGA, kdy motoricka vlakna jsou v oblasti paže a lokte vedena skrze n. medianus a zasobuji svaly ruky inervovane n. ulnaris (m. abductor digiti minimi, m. interosseus dorsalis primus ci m. adductor pollicis). Soubor a metodika: V pěti EMG laboratořich bylo unifi kovanou technikou vysetřeno 292 zdravých osob ve věku 20– 67 let, průměr 39,4 let: 166 žen (256 rukou) a 126 mužů (201 rukou), celkem 457 rukou. Byla provedena motoricka a senzitivni neurografie n. ulnaris a n. medianus. Pro detekci MGA mělo zasadni význam hodnoceni amplitudy CMAP pro n. ulnaris a n. medianus při stimulaci z oblasti lokte a zapěsti. Výsledky: V nasem souboru 457 vysetřených rukou jsme na 90 rukou nasli 109 výskytů MGA. U 30 rukou se jednalo o MGA-I, u 57 rukou o MGA-II a u 22 rukou o MGA-III. Izolovane typy MGA se vyskytly v 73 připadech, Na 17 rukou se vyskytla kombinace dvou, ojediněle dokonce vsech tři typů MGA soucasně. Zavěr: V souboru 292 osob zdravých osob jsme na 457 hodnocených rukou nasli MGA v 19,7 %. Nejcastěji se vyskytoval typ MGA-II (12,5 %).

OBJECTIVES: We report the results of the visual evoked potentials (VEP) examination in patients after severe poisoning by methanol. MATERIAL AND METHODS: The group of 47 patients (38 males and 9 females) was assembled out of persons who survived an outbreak of poisoning by the methanol adulterated alcohol beverages, which happened in the Czech Republic in 2012-2013. The visual evoked potentials examination was performed using monocular checkerboard pattern-reversal stimulation. Two criteria of abnormality were chosen: missing evoked response, and wave P1 latency > 117 ms. Non-parametric statistical methods (median, range, and the median test) were used to analyze factors influencing the VEP abnormality. RESULTS: The visual evoked potential was abnormal in 20 patients (43%), 5 of them had normal visual acuity on the Snellen chart. The VEP abnormality did not correlate significantly with initial serum concentrations of methanol, formic acid or lactate; however, it showed statistically significant inverse relation to the initial serum pH: the subgroup with the abnormal VEP had significantly lower median pH in comparison with the subgroup with the normal VEP (7.16 vs. 7.34, p = 0.04). The abnormality was not related to chronic alcohol abuse. CONCLUSIONS: The visual evoked potentials examination appeared sensitive enough to detected even subclinical impairment of the optic system. Metabolic acidosis is likely to be the key factor related to the development of visual damage induced by methanol. The examination performed with a delay of 1-9 months after the poisoning documented the situation relatively early after the event. It is considered as a baseline for the planned long-term follow-up of the patients, which will make it possible to assess the dynamics of the observed changes, their reversibility, and the occurrence of potential late sequelae.This work is available in Open Access model and licensed under a CC BY-NC 3.0 PL license. Language: en

Bulbospinalni svalova atrofie (BSMA) je vzacne degenerativni onemocněni dospěleho věku s pomalou progresi, způsobene expanzi CAG tripletů na prvnim exonu androgenoveho receptoroveho genu chromozomu Xq11–12. Dědicnost je recesivni X-vazana, nemoc se projevuje u mužů, ženy jsou přenasecky. Hlavni neurologicke projevy jsou slabost, atrofie a fascikulace bulbarnich (jazyka, oblicejových svalů) a koncetinových svalů (výraznějsi proximalně). Dalsimi symptomy jsou gynekomastie, tremor rukou, svalove bolesti a krampi, lehký senzitivni deficit. Diagnoza je obvykle stanovena mezi 40 a 50 lety, ale prvni přiznaky (gynekomastie, slabost, křece) se objevuji od 30 let. Elektromyograficke vysetřeni naleza regeneracni potencialy, fascikulace. Geneticke vysetřeni prokaže expanzi CAG tripletů nad 40. V soucasnosti neni znama ucinna lecba, nebýva významně zkracena průměrna delka života.

Neurological sequelae including gait impairment were reported in survivors after methanol intoxication; however, no systematic study has been published so far. We aimed to analyse gait and balance impairment in a group of Czech methanol poisoning survivors. We examined 43 patients (age 46 ± 13 years) 2-8 months after methanol poisoning and 43 healthy controls. Investigations contained a shortened version of Falls Efficacy Scale (FES), clinical tests of gait and balance including Timed Up and Go test (TUG) and gait analysis using GaitRite® system, neurological and neuropsychological examination, brain imaging, EMG and tests of alcohol consumption. Nineteen patients admitted balance and gait impairment according to FES. Mild to moderate parkinsonian signs showed seven patients. Patients were slower (8.8 versus 5.7 s, p < 0.001) and performed more steps (11.1 versus 7.9, p < 0.001) in TUG compared with the controls. Gait analysis revealed shorter step length (76.5 versus 88.7 cm, p < 0.001), increased double support phase (18.8 versus 15.5%, p < 0.001) and wider base of support (11.3 versus 9.6 cm, p = 0.006) in patients. Eleven patients had deficit of executive function and performed higher cadence compared to the patients with normal execution (122.7 versus 115.0 step/min., p = 0.025). Lower limb polyneuropathy was verified in nine patients, without relation with gait or balance parameters. Neuroimaging revealed lesions mainly in the basal ganglia. Methanol poisoning survivors presented slower wide-based gait with shortened steps corresponding with frontal gait disorder. Higher stepping cadence associated with executive deficit supported the evidence of frontal lobe dysfunction related to impairment of basal ganglia and connections in frontal cortico-basal ganglia loops.

Danonova nemoc je X-vazana porucha, způsobena mutaci lysosomalniho membranoveho proteinu 2 (LAMP2). To ma za nasledek dysfunkci lysosomalniho systemu ve smyslu narusene autofagie. Klinicky se porucha manifestuje předevsim jako hypertroficka kardiomyopatie, myopatie kosterniho svalstva, připadně hepatopatie. U žen je organova manifestace a zavažnost poruchy modifikovana procesem X inaktivace. Cilem prace bylo popsat prvni připad rodiny s Danonovou nemoci diagnostikovaný v Ceske republice. Diagnoza byla stanovena u 27leteho nemocneho muže s terminalnim srdecnim selhanim na podkladě hypertroficke kardiomyopatie, nasledně pak u jeho sestry a synovce. Byla založena na průkazu autofagickeho procesu v biopsii kosterniho svalu, absenci proteinu LAMP2 imunohistochemickým vysetřenim a průkazem patogenni mutace v přislusnem genu. Kardiologicke nalezy byly kompatibilni s diagnozou hypertroficke kardiomyopatie bez obstrukce výtokoveho traktu LK, v EKG obraze byly přitomny znamky preexcitace. Ke klinicke manifestaci onemocněni doslo v deseti letech (u sestry ve 12 letech, u synovce v osmi letech). U probanda a jeho sestry byl dokumentovan rozvoj systolicke dysfunkce leve komory srdecni a progrese do terminalniho srdecniho selhani ve třetim decenniu. Onemocněni u nich bylo uspěsně řeseno srdecni transplantaci. Postiženi kosterniho svalstva u nemocných mělo odraz ve zvýsene serove koncentraci kreatinkinazy.

Ucel: Ucelem studie bylo vypracovani pocitacoveho modulu k výpoctu kompresivni sily v oblasti plotenky L4/L5 pro použiti v praxi. Metody: Předpoklada se, že hodnota kompresivni sily je použije jako nahradni hodnota mechanicke zatěže bederni pateře v průběhu pracovni aktivity. Kompresivni sila predikovana pomoci modulu u konkretniho pracovnika musi být porovnana s NIOSH (americke normy) limitni hodnotou 3 400 N pro zhodnoceni zatěže bederni pateře v průběhu manualnich ukonů se zvedanim předmětů. Přestoupeni limitni hodny bude posouzeno jako naplněni hygienických kriterii, ktere musi být dosaženy, aby mohla být porucha bederni pateře hodnocena jako nemoc z povolani. Ve vývoji pocitacoveho modulu jsme použili ergonomický software TECNOMATIX Classic Jack, který zohledňuje antropometricke parametry pracovnika i ergonomicke parametry jeho pracovni aktivity. Výsledky: Vypocetli jsme kompresivni sily působici na plotenku L4-L5 ve 1 300 simulovaných kombinacich různých faktorů ovlivňujicich kompresivni sily. Parametry, ktere se ukazaly rozhodujici pro kompresi disku L4/L5 byly zařazeny do pocitacem zpracovaneho algoritmu. Zavěr: Nase studie byla primarně zaměřena na zhodnoceni poruch bederni pateře jako nemoci z povolani. Navic se nase studie může podilet na doporuceni preventivnich opatřeni ke sniženi zdravotnich rizik povolani spojených s přetiženim bederni oblasti. Graficke mapy generovane pocitacovým modulem umožňuji rychlou a přesnou analýzu konkretniho pracovniho zařazeni.

Background Frontotemporal lobar degeneration with ubiquitin and TDP-43 positive neuronal inclusions represents a novel entity (FTLD-TDP) that may be associated with motor neuron disease (FTLD-MND); involvement of extrapyramidal and other systems has also been reported. Case presentation We present three cases with similar clinical symptoms, including Parkinsonism, supranuclear gaze palsy, visuospatial impairment and a behavioral variant of frontotemporal dementia, associated with either clinically possible or definite MND. Neuropathological examination revealed hallmarks of FTLD-TDP with major involvement of subcortical and, in particular, mesencephalic structures. These cases differed in onset and progression of clinical manifestations as well as distribution of histopathological changes in the brain and spinal cord. Two cases were sporadic, whereas the third case had a pathological variation in the progranulin gene 102 delC. Conclusions Association of a "progressive supranuclear palsy-like" syndrome with marked visuospatial impairment, motor neuron disease and early behavioral disturbances may represent a clinically distinct phenotype of FTLD-TDP. Our observations further support the concept that TDP-43 proteinopathies represent a spectrum of disorders, where preferential localization of pathogenetic inclusions and neuronal cell loss defines clinical phenotypes ranging from frontotemporal dementia with or without motor neuron disease, to corticobasal syndrome and to a progressive supranuclear palsy-like syndrome.

To evaluate the potential of quantitative MR techniques [voxel-based morphometry (VBM), T2-relaxometry, mean diffusivity (MD), fractional anisotropy (FA)] in the diagnostics of amyotrophic lateral sclerosis (ALS). Thirty-three ALS patients and thirty age- and sex-matched healthy volunteers were included in the cross-sectional study. T1WI, T2WI and T2 relaxometry sequences were performed at 1.5T. DWI was performed in a subgroup of 12 patients. Disease severity was estimated with the ALS Functional Rating Scale (ALS-FRS). We detected decreased T2 relaxation rate (R2) in the frontal white matter (FWM) (left and right P

International audience; Aim: Low-back pain diseases (LBPD) belong to the most frequent diagnoses determined by general practitioners, and constitute one of the most common reasons for sick leave and permanent disability pension in the Czech Republic and other European countries. Epidemiological studies have shown a statistically significant association between LBPD and certain types of occupational burden. However, in the Czech Republic, LBPD caused by overload and/or whole-body vibrations have not yet been included in the list of occupational diseases. The aim of this study was to collect and compare the systems, criteria and diagnoses used to recognize LBPD as occupational diseases in other European countries.Methods: A questionnaire focused on LBPD was distributed and answered by specialists in occupational diseases in European countries. It included items concerning LBPD in the national list of occupational diseases, and work-related and diagnostic criteria that need to be fulfilled for recognizing LBPD as occupational diseases and possible awarding compensations to the patients.Results: In 13 countries out of the 23 countries studied, LBPD caused by overload can be recognized as occupational, providing that the diagnosis is sufficiently proven and exposure criteria and/or listed occupation are met and duration of exposure is confirmed (Belgium, Denmark, France, Germany, Hungary, Italy, Lithuania, Macedonia, Netherlands, Romania, Slovakia, Sweden, and Switzerland). LBPD due to vibrations can be also recognized as occupational in 14 countries. In 8 countries LBPD are not accepted as occupational unless they are caused by an injury at work. Specific criteria to evaluate occupational exposure of patients with LBPD were set in Belgium, Denmark, France, Germany, Lithuania, Macedonia, Netherlands, and Slovakia. In other countries, the evaluation is done at an individual basis.Conclusions: In practice, the assessment of occupational overload and its contribution to the development of LBPD as well as its inclusion in the compensation system are important for several reasons. Firstly, it may be considered essentially preventable. Secondly, cases with a significant contribution of occupational aetiology may be viewed as occupational diseases for which compensation may be claimed, as it is the case in many European countries. Importantly, inclusion of LBPD in the list of occupational diseases or another system of compensation may be viewed as a preventive measure as it increases the visibility of this problem not only for the workers, but especially for the employers.