Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's disease. / Guía clínica para el diagnóstico y seguimiento de la distrofia miotónica tipo 1, DM1 o enfermedad de Steinert.

BACKGROUND AND OBJECTIVES: Steinert's disease or myotonic dystrophy type 1 (MD1), (OMIM 160900), is the most prevalent myopathy in adults. It is a multisystemic disorder with dysfunction of virtually all organs and tissues and a great phenotypical variability, which implies that it has to be addressed by different specialities with experience in the disease. The knowledge of the disease and its management has changed dramatically in recent years. This guide tries to establish recommendations for the diagnosis, prognosis, follow-up and treatment of the complications of MD1. MATERIAL AND METHODS: Consensus guide developed through a multidisciplinary approach with a systematic literature review. Neurologists, pulmonologists, cardiologists, endocrinologists, neuropaediatricians and geneticists have participated in the guide. RECOMMENDATIONS: The genetic diagnosis should quantify the number of CTG repetitions. MD1 patients need cardiac and respiratory lifetime follow-up. Before any surgery under general anaesthesia, a respiratory evaluation must be done. Dysphagia must be screened periodically. Genetic counselling must be offered to patients and relatives. CONCLUSION: MD1 is a multisystemic disease that requires specialised multidisciplinary follow-up.

[Validation of the Spanish version of the QoL-AD Scale in alzheimer disease patients, their carers, and health professionals]. / Validación de la versión española de la escala QoL-AD en pacientes con enfermedad de Alzheimer, cuidadores y profesionales sanitarios.

BACKGROUND: Quality of life (QOL) is becoming increasingly important to measure the effect of interventions on the life of patients with Alzheimer's disease (AD), particularly on the most meaningful issues. However, most of the instruments used to measure QOL have not been validated in the Spanish population. The aim of this study was to determine the psychometric properties of a Spanish version of QoL Scale in patients with AD, carers and health professionals. MATERIAL AND METHODS: On hundred and two patients, their carers and 25 health professionals were recruited from day centres. Patients' QOL was rated by patients, carers and health professionals. The Health Utilities Index, Clinical Insight Rating Scale and Mini Mental State Examination were also administered. RESULTS: The internal and external reliability of QoL-AD were excellent. Criterion validity was indicated by a significant correlation of QoL-AD scores with HUI-3 and QoL-AD global item scores (p<.05). Lack of insight and cognitive impairment did not have an effect on these properties. QoL-AD scores were not significantly different between groups made according sociodemographic characteristics and cognitive impairment (p>.05). The exploratory factor analysis result revealed a three factor solution, which accounted for 61.3% of variance: health factor, functional status factor, and social relationship-environment factor. CONCLUSIONS: QoL-AD Scale has proved to be a valid and reliable instrument to measure QoL of Spanish AD patients with mild-to-moderate cognitive impairment and a wide range of anosognosia.