As cefaleias são uma causa significativa de incapacidade a nível global, com a enxaqueca a ocupar o segundo lugar entre as doenças com mais anos vividos com incapacidade. A maioria dos doentes com cefaleias, incluindo enxaqueca, podem e devem ser diagnosticados, tratados e acompanhados eficazmente nos cuidados de saúde primários. Isso não só reduz a incapacidade associada a estas patologias, mas também previne ...
Parry-Romberg syndrome (PRS) is a rare disorder characterized by a progressive atrophy of the skin, subcutaneous tissue, muscle, and bone of the hemiface, being more common in females. The etiology is unknown, and symptomatology is variable, beginning in the first two decades of life and evolving over 20 years or more. There is no specific treatment, and prognosis depends on the severity of lesions. We report t...
Funding Information: Editorial support in the form of medical writing and editing assistance for manuscript preparation was provided by Evidenze Portugal. This article was fully supported by the Portuguese Multiple Sclerosis Study Group (GEEM), without any additional external funding. Publisher Copyright: Copyright © Ordem dos Médicos 2025.; Multiple sclerosis (MS) is a chronic autoimmune-mediated neurodegenera...
Multiple sclerosis (MS) is a chronic autoimmune-mediated neurodegenerative disease characterized by inflammation, demyelination, and axonal/neuronal damage in the central nervous system. In Portugal, the prevalence of MS is approximately 64.4 per 100 000 individuals. It is typically diagnosed in young adults aged 30 to 40, with a higher incidence in women, although it can also affect children/adolescents and th...
PRRT2 is a presynaptic plasma membrane protein involved in neurotransmitter release. Disorders associated with PRRT2 pathogenic variants are a spectrum of clinical conditions with autosomal dominant inheritance, characterized by a paroxysmal presentation. The three main ones are self-limited infantile epilepsy, paroxysmal kinesigenic dyskinesia, and hemiplegic migraine, but other presentations have been reporte...