António Atalaia

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OBJECTIVE Fibromyalgia syndrome (FMS) is a musculoskeletal disorder characterized by generalized pain, localized tender points, chronic fatigue and nonrestorative sleep. Since sleep disturbances frequently occur in FMS and alpha intrusion in nonrapid eye movement (NREM) sleep probably associates with the nonrefreshing sleep, we prospectively studied the(More)
Respiratory dysfunction is a critical problem in amyotrophic lateral sclerosis (ALS). We report a patient with ALS who had respiratory apraxia. A 74-year-old female presented with progressive dysarthria and dysphagia. Clinical signs and evidence of widespread denervation on electromyography (EMG) confirmed the diagnosis of ALS. She had no signs of dementia.(More)
Joint Actions are successful initiatives from the European Commission (EC) that have helped to raise awareness and to bring significant benefit to those suffering from a rare disease (RD). In this paper, we will focus on the activities developed by the EUCERD Joint Action (EJA) and by the Orphanet Joint Action ("Orphanet Europe"). EUCERD Joint Action was(More)
There are a number of sleep studies in amyotrophic lateral sclerosis (ALS), in general including a heterogeneous population of patients. We aimed to study sleep in a population of selected ALS patients by investigating nocturnal polysomnography (PSG) characteristics in ALS patients with normal respiratory function tests and preserved diaphragmatic(More)
severe deafness. Nuclear magnetic resonance imaging of the brain was normal. Cholinesterase inhibitors had no effect. We administered 1 mg/kg prednisone to the patient daily for 2 weeks, without any benefit. The patient was discharged in an unchanged state. One month later, acute breathing distress led to respiratory arrest. Endotracheal intubation (EI) was(More)
RARE-Bestpractices: a platform for sharing best practices for the management of rare diseases D Taruscio, C Morciano, P Laricchiuta, P Mincarone, F Palazzo, CG Leo, S Sabina, R Guarino, J Auld, T Sejersen, D Gavhed, K Ritchie, M Hilton-Boon, J Manson, PG Kanavos, D Tordrup, V Tzouma, Y Le Cam, J Senecat, G Filippini, S Minozzi, C Del Giovane, H Schünemann,(More)
We report a patient with proximal right upper limb tremor, secondary to direct peripheral nerve lesion caused by prior thoracic surgery. Electromyography demonstrated neurogenic abnormalities and tremor in muscles innervated by the thoracodorsal and long thoracic nerves. Somatosensory evoked potentials, transcranial magnetic stimulation, and MRI of the(More)
BACKGROUND In the past few years there has been a political imperative driving the creation of European Reference Networks as these are considered a promising way to achieve equity in access to the most up to date medical care across Europe. The right to equity in the access to care was established by the directive of the European Parliament and of the(More)
Myotonic dystrophy type 1 (DM1) is not characterised by ataxia per se; however, DM1 and ataxia patients show similar disturbances in movement coordination often experiencing walking and balance difficulties, although caused by different underlying pathologies. This study aims to investigate the use of a scale previously described for the assessment and(More)
Primary lateral sclerosis (PLS) is a very rare disease characterized by pure upper motor neuron findings. Although a number of previous reports have evaluated this condition, no study has addressed the respiratory function in PLS. Six patients meeting previously proposed diagnostic criteria for PLS were submitted to a number of respiratory tests: forced(More)