Limb-girdle muscular dystrophy in a Portuguese patient caused by a mutation in the telethonin gene.

Limb-girdle muscular dystrophy 2G is caused by mutations in the telethonin (TCAP) gene in chromosome 17q11-12. This rare form of hereditary muscle disease was originally described in Brazilian patients and was recently identified in Chinese and Moldavian patients. We present the first Portuguese patient with a limb-girdle muscular dystrophy caused by a mutation in the TCAP gene. A Caucasian male, 50 years old, presented in his early twenties, slowly progressive weakness in upper and lower limbs. Neurologic examination revealed severe atrophy and weakness in the muscles of the arms, thighs and legs' anterior compartment. Muscle MRI of the thighs and legs revealed severe atrophy of all the muscles of the thighs and legs' anterolateral compartment, in a symmetrical way. Molecular studies identified the homozygous c.157C > T (p.Gln53X) mutation in exon 2 of the TCAP gene, already described in Brazilian patients.

Community-based stroke prevention: a Portuguese challenge.

Stroke is the leading cause of death in Portugal, accounting for about 20% of total mortality, despite a 25% decline in death rates from cerebrovascular diseases between 1980 and 1989. Epidemiological observations demonstrating that the high rates of cerebrovascular disease are accompanied by high levels of blood pressure have raised considerable interest concerning the primary prevention of hypertension. Excess salt consumption is considered to have an important role in the pathogenesis of hypertension. Since salt is widely consumed by the Portuguese population, priority has been given to salt reduction for the primary prevention of hypertension. Community-based programs have demonstrated that it is possible to improve lifestyles, for instance by reducing high salt intake. Integrated and multifactorial interventions have promoted health and better treatment of hypertension as well as better control of concomitant risk factors. As a consequence of the population aging, there is a high probability of an increase in stroke occurrence. The present and future number of stroke survivors, requiring both acute and long-term care, will increase the social and economic burden. It is important to raise the awareness of politicians and the public so that both the prevention and management of patients with stroke will be given high priority.