ABSTRACT
Pompe disease is a rare genetic disorder with an estimated prevalence of 1:60.000. The two main phenotypes are Infantile Onset Pompe Disease (IOPD) and Late Onset Pompe Disease (LOPD). There is no published data from Spain regarding the existing number of cases, regional distribution, clinical features or, access and response to the treatment. We created a registry to collect all these data from patients with Pompe in Spain. Here, we report the data of the 122 patients registered including nine IOPD and 113 LOPD patients. There was a high variability in how the diagnosis was obtained and how the follow-up was performed among different centres. Seven IOPD patients were still alive being all treated with enzymatic replacement therapy (ERT) at last visit. Ninety four of the 113 LOPD patients had muscle weakness of which 81 were receiving ERT. We observed a progressive decline in the results of muscle function tests during follow-up. Overall, the Spanish Pompe Registry is a valuable resource for understanding the demographics, patient's journey and clinical characteristics of patients in Spain. Our data supports the development of agreed guidelines to ensure that the care provided to the patients is standardized across the country.
Subject(s)
Glycogen Storage Disease Type II , Humans , Glycogen Storage Disease Type II/epidemiology , Glycogen Storage Disease Type II/genetics , Glycogen Storage Disease Type II/therapy , alpha-Glucosidases/genetics , Phenotype , Registries , Enzyme Replacement Therapy/methodsABSTRACT
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Subject(s)
Humans , Female , Aged , Hearing Loss, Bilateral/etiology , Meningeal Carcinomatosis/secondary , Hearing Loss, Bilateral/pathology , Meningeal Carcinomatosis/pathology , Adenocarcinoma of Lung/diagnosis , Magnetic Resonance Spectroscopy , Spinal Puncture , Adenocarcinoma/cerebrospinal fluid , Adenocarcinoma/diagnosis , Endoscopic Ultrasound-Guided Fine Needle AspirationABSTRACT
BACKGROUND: Chronic migraine is a quite recent concept. However, there are descriptions suggestive of episodic migraine since the beginning of scientific medicine. We aim to review main headache classifications during Classical antiquity and compared them with that proposed in the 11th century by Constantine the African in his Liber Pantegni, one of the most influential texts in medieval medicine. METHOD: We have carried out a descriptive review of Henricum Petrum's Latin edition, year 1539. RESULTS: Headache classifications proposed by Aretaeus of Cappadocia, Galen of Pergamun and Alexander of Tralles, all of them classifying headaches into three main types, considered an entity (called Heterocrania or Hemicrania), comparable to contemporary episodic migraine.In ninth book of Liber Pantegni, headaches were also classified into three types and one of them, Galeata, consisted on a chronic pain of mild intensity with occasional superimposed exacerbations. CONCLUSION: In Liber Pantegni we have firstly identified, as a separate entity, a headache comparable to that we currently define as chronic migraine: Galeata.
