No abstract

No abstract

No abstract

We report on 3 brothers with a myopathy that also affected their maternal grandfather and great-uncle. Characteristic features are onset in early childhood, very slow progression, normal life expectancy, weakness of proximal limb muscles, especially in the legs, elevation of serum creatine kinase, and no cardiac or intellectual involvement. In biopsy material muscle fibers are almost never necrotic but show excessive autophagic activity and exocytosis of the phagocytosed material. We suggest that this family has an undescribed type of congenital myopathy, for which we propose the name X-linked myopathy with excessive autophagy.

No abstract

No abstract

An attention-independent negative wave-form termed 'mismatch negativity' (MMN) of the auditory event-related potentials (ERPs) was studied in ten children (3-6 years) with developmental dysphasia and in fourteen control children (3-7 years) with normal speech and language development. The MMNs were elicited with pure sine tone stimuli using the oddball paradigm. The peak latency and peak amplitude of MMN response to frequency (500/553 H2) difference was measured. The grand average amplitude of frequency MMN was significantly attenuated in dysphasic children as compared to controls, but no significant difference was observed in the latency of peak frequency MMN. The results indicate that dysphasic children have a defect in automatic auditory processing of frequency differences. Because the MMN response reflects central auditory processing and is modal specific for auditory stimuli we argue that the MMN method can serve as an objective tool to assess central auditory deficits in children.

The alpha rhythm of 18 patients with classical migraine (migraine with aura) was studied by EEG spectrum analysis for evidence of neural abnormalities during the asymptomatic period. The temporal relationship of the findings to attacks was studied by serial records in 11 cases. Increased frequency dispersion and frequency asymmetries of the alpha rhythm were found. The records were, however, mostly normal when separated from attacks by at least 10 asymptomatic days. The abnormalities increased significantly before the onset of prodromal symptoms and clearly outlasted the headache phase. The results give evidence of a fluctuating asymmetric neural disorder in classical migraine.