Peripheral neuropathies represent various disturbances of peripheral nervous system and according to localization of peripheral nervous system lesions (neurons, roots, ganglia, nerves), distribution and extend of lesions (mononeuropathies to polyneuropathies), type of lesion (axonal, demyelinisation, mixed), and clinical course (acute, chronic, remitting, steadily progressive) are differing one from another. Patients with peripheral neuropathies are often coming to neurological outpatients’ clinics. A successful diagnosis and a satisfying therapy use to be a difficult problem. An overview of basic aspects of neuropathies with suggestion of logical diagnostic process and principles of therapy should contribute to further proceedings in care of these patients.

Choreatic dyskinesias are caused by the hetegenous dysfunctions of basal ganglia system. For clinical settings we have several options: antipsychotics (i. e. risperidone, tiapride), presynaptic dopamine depletors (tetrabenazine), GABAergics (clonazepam), antiglutamatergics (i. e. amantadine). Their intensity could be pharmacologically controlled, at least partially, however their causal curability is only seldom available.

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.

The stimulation technique in neurosurgery is based on the possibilities of sterotactic technique, technical parameters of implantable systems, imaging techniques, and contemporary pathophysiological and clinical knowledge on the role of the potential targets of electrical stimulation. It is the case of not only the stimulation of subcortical structures, but also of those of the cerebellum and cerebral cortex. An advantage of stimulation therapy is the reversible nature of electrical stimulation, limitations include economic factors and mechanical complications of implantable systems. The development of responsive systems which respond to recorded epileptic discharges offers a promising perspective.