Pompe disease (PD, type 2 glycogenosis, GSD II, acid maltase deficiency) is a progressive genetic disorder caused by the deficiency of lysosomal enzyme with the glycogen accumulation particularly in the skeletal and cardiac muscles. Its incidence is 1:40 000 births and occurs both in childhood and adult age. The disease prognosis is unfavourable, even catastrophic in an infantile form, but its course can be relieved and the patients´ as well as their families´ life quality improved thanks to enzyme replacement therapy (ERT). In the Czech Republic there was initiated last year a project of examining a risk group of patients with PD by screening investigations of blood using the „dried blood spot“ (DBS) method. If the results is positive, the diagnosis will be either confirmed or disproved by means of examining the activity of acid alpha-1.4-glucosidase (GAA) in leukocytes and mutation analysis on the DNA level. The project principal aim is to reveal still not diagnosed PD patients and to improve the knowledge of professional population about clinical manifestations and prognosis of this disorder. Another goal is to find out the PD incidence in the Czech population as well as diagnoses and problems under which the patients have been registered. Positive patients for whom the ERT is suitable will be then treated correctly and early. The examination by means of „dried blood spot“ is a simple and not burdening investigation, and the registration of patients is supposed to be realized by 2010.

Breakthrough pain is one of the symptoms of tumorous pain. This term is not always used by physicians for the same symptom. The article presents the latest exact definition of breakthrough pain and mentions the states that are considered to be breakthrough pain but do not correspond to the current definition. Advanced stages of disease are a risk period for a progressive development of pain as well as breakthrough pain. Pathophysiologically, all kinds of pain are involved in breakthrough pain: nociceptive, neuropathic, and mixed pain. The speed of onset and duration of pain are essential data for breakthrough pain, which can range from several minutes to several hours and occur despite a well adjusted treatment of basic pain. Breakthrough pain has to be diagnosed correctly and treated with respect to the basic pain and the general condition of the patient. So far, treatment options have been limited to rapid-acting morphine that, however, lacks the characteristics required for this type of pain. Fentanyl sublingual or buccal tablets or nasal spray come closest to an ideal drug for treating breakthrough pain.

For most patients with spinal cord injury initial medical care is provided by spinal units or spinal rehabilitation units. However, quality care should also continue in a chronic stage where it can be provided by a specialist or a well trained general practitioner. Spinal lesions are often accompanied by various complications that mostly does not require a different approach than in non-injured population. Nevertheless these complications often show poor symptomatology which can entail their missed or late diagnosis. Frequent complications in spinal injury are e.g. spasticity, autonomic dysreflexia or neuropathic pain. Impaired vitality of the skin and soft tissues below the lesion brings about a permanent danger of pressure sores. We believe that a short outline of complications with their diagnosis and treatment will be helpful to all physicians providing care to spinal patients.

The task in writing this guideline proposes recommended diagnostics algorithm for Alzheimer´s disease, vascular dementia, frontotemporal dementia, Parkinson´s disease with dementia, and dementia with Lewy Bodies. The aim of this guidelines for diagnosis of dementia is to present a peer-rewiewed and evidence-based statement in order to guide the practice neurologists, geriatricians, psychiatrists, and other specialised physicians responsible for the care of the patients with dementia. This guideline may contribute to the rational diagnotic methods proceeding in the most common dementia disorders according to evidence-based medicine.

The authors present a rare clinical case of a 41-year-old patient with a spinal teratoma in the caudal region which manifested as sphincter difficulties. Following previous graphic examinations and the assessment of the intraoperative finding, the tumour was managed with endocapsular extirpation. A histological examination confirmed the finding of a mature teratoma. In the discussion, the authors briefly present the knowledge concerning the aetiopathogenesis and therapy for spinal teratoma.

This study aimed to introduce a Czech version of the Disability Assessment for Dementia to evaluate activities in daily living (ADL) in patients with Alzheimer disease (AD). We translated items from the original source and back to English. Then we created a user-friendly questionnaire named DAD-CZ. Caregivers assessed ADL of 42 patients with AD (mean Mini Mental State Examination, MMSE, ± SD 17 ± 6) by filling up the questionnaire within 5–10 minutes in the waiting room. DAD-CZ was not related to age, education or sex. We observed the moderate correlation with MMSE (Spearman´s r = 0,5; p = 0.001). The DAD-CZ questionnaire extends options for structured measurements of basic and instrumental ADL in patients with dementia, namely AD, in the Czech Republic.

Prophylactic drug treatment is foregrounded in attempt to reduce frequency, duration or severity of migraine attacks, further after inefficiency or contraindications of acute therapy. Drugs of the first choice are initially administrated, i. e. valproate, topiramate, metoprolol, flunarizine. If these drugs are not effective, are contraindicated or in case of comorbidity, we use drugs of the second choice (amitriptylin) or another prophylactic drugs. Monotherapy is preferred at first, prophylactic drugs may be combined. Duration of prophylaxis is usually 6–9–12 months. During menstrual migraine, nonsteroidal anti-inflammatory drugs (naproxen) or triptans (frovatriptan, naratriptan) are administrated intermittently, another option is hormonal prophylaxis. Using of magnesium is without risk during pregnancy. In resistant cases metoprolol can be applied. The failure of prophylaxis can be caused by the wrong diagnosis of the headache.

The physiotherapy of the spinal cord injuries takes, due to its high demands in costs, skills and specific needs, place at the specialized wards – the Spinal cord units. With respect to those requirements the special ASIA neurological assessment (performed according to the American Spinal Injury Association, ASIA) has been currently used. This examination permits an assessment of the level and extent of the neurological impairment. The rehabilitation begins immediately the SCI patients are admitted to the SCU. The main attention is paid to the respiratory and pain management. A wide range of specific physiotherapy methods have been used in order to minimize neurological and functional deficits after SCI (e. g., techniques based on the clinical neurology approach, performance of passive and active movements, verticalization, physical therapy, functional electrical stimulation, using MotoMed and Lokomat devices etc). The specialized physiotherapeutic management during the acute, sub-acute and chronic phase after SCI has been focused on a recovery of disturbed functions, a restoration of the remaining muscle potential, a creation of compensatory mechanisms to achieve as high as possible level of self-sufficiency and especially to reach the acceptable quality of life.

In this review article, general information is expressed concerning available biochemical, cytological, ammunological and microbiological metodologies of cerebrospinal fluid evaluation. Basic and advanced criteria of investigation are distiguished, including advanced parameters of CSF. Basic algorithm of laboratory evaluation of CSF is recommended, in association with concrete neurological diagnosis.

Event-related synchronization and desynchronization (ERD/S) represents a quantitative non-linear EEG signal analysis method, that enables to evaluate the changes of the background activity in any frequency ranges. These changes are related to an external or internal stimulus and are linked to the brain activation. It is widely used in the neuroscience research as a form of functional brain mapping. Especially the intracerebral recording data analysis have a big importance.

This contribution addresses the challenge of chronic non-specific lower back pain (LBP), a matter often accompanied by a degree of unpleasantness for family doctors, vertebrologists, and many other carers. LBP sufferers search various segments of the health care system with considerable energy, sometimes approaching the point of abuse. Most physicians approach this problem through the so-called „biological” model of pain, i. e. by means of imaging and other diagnostic work-up they try to identify the pathological issue leading to the pain and remove it by pharmaceutical and/or surgical means. This classic model has not proved appropriate in chronic non-specific LBP and mirrors one of the causes of unsatisfactory results in more widespread treatment. An increasing number of studies published in recent years recommend the employment of what is known as the operant conditioning model, and present evidence of high efficacy

The article shortly summarizes the associations of intracranial hypertension and its symptoms in the light of its pathophysiological bases. The main symptoms of intracranial hypertension are listed as well as the clinical descriptions mentioned in the past by reputable Czech neurologists.

A 49-year-old female diabetic patient with hypertension presented to a neurological unit with a mild, recurrent central monoparesis of the right arm. Brain imaging failed to demonstrate any pathology. Electrocardiography (ECG) revealed an inferior wall scar. Echocardiography disclosed a left ventricular thrombus; coronarography showed a severe diffuse disease. Cardiac surgery consisting of aortocoronary bypass and thrombectomy was indicated. Cardiac diseases resulting in thrombus formation as well as investigations which are most beneficial in their detection are discussed.