[Clinical heterogeneity in patients with ocular myopathies]. / Heterogenost klinickog ispoljavanja kod bolesnika s okularnom miopatijom.

We present the results of clinical, electrophysiological, and biopsy studies in patients with ocular myopathy. Nine patients (four women and five men) were included in these investigations. According to the biopsy findings the patients were divided into patients with oculocraniosomaltic syndrome (OCSS) and patients with oculopharyngeal muscular dystrophy (OPMD). The presented clinical features, especially in the OCSS groups was more variable. Associated neurological and multisystem disturbances were characteristic of OCSS. Biopsy findings were of essential significance in distinguish these two conditions, especially in cases of the late onset.

[McArdle's disease]. / Mak Ardlova (McArdle) bolest.

Glycogenosis type V (McArdle disease) is a serious metabolic disorder with an exercise intolerance, myalgia, early fatigue and stiffness of exercising muscles, relieved++ by rest. The authors present a case report of patient with McArdle's disease, and diagnostic procedures which can be used in different diagnostic of metabolic myopathies, especially between myoadenylate deaminase deficiency and different types of gly(geno)lytic myopathies. The importance of "ischemic forearm test" and muscle biopsy is emphasized.