6 documents found, page 1 of 1
Changes in Nerve Conduction Studies Predate Clinical Symptoms Onset in Early On...
Castro, J; Miranda, B; Castro, I; Conceição, IBackground and purpose: Hereditary amyloidosis related to transthyretin (ATTR) is a rare and progressive disease that, despite the phenotypic heterogeneity, a length-dependent sensorimotor axonal neuropathy (ATTR-PN) is the classic hallmark. Timely diagnosis is paramount for early treatment implementation. Methods: Sixty-nine asymptomatic gene carriers (Val30Met) were assessed during a 4-year period to identify...
Screening for Pompe disease in a Portuguese high risk population
Almeida, V; Conceição, I; Fineza, I; Coelho, T; Silveira, F; Santos, M; Herrero Valverde, A; Geraldo, A; Maré, R; Aguiar, TC; Mendonça, C; Martins, JPompe disease is a rare metabolic disorder with available enzymatic replacement therapy. Contrasting with the classic infantile form, the others subtypes have a heterogeneous presentation that makes an early and accurate diagnosis difficult. We conducted a prospective, multicenter, observational study to identify undiagnosed patients. During a one-year period, patients followed in Portuguese neuromuscular outpa...
Screening for Pompe Disease in a Portuguese High Risk Population
Almeida, V; Conceição, I; Fineza, I; Coelho, T; Silveira, F; Santos, M; Valverde, A; Geraldo, A; Maré, R; Aguiar, TC; Mendonça, C; Martins, JPompe disease is a rare metabolic disorder with available enzymatic replacement therapy. Contrasting with the classic infantile form, the others subtypes have a heterogeneous presentation that makes an early and accurate diagnosis difficult. We conducted a prospective, multicenter, observational study to identify undiagnosed patients. During a one-year period, patients followed in Portuguese neuromuscular outpa...
Dominant and Recessive RYR1 Mutations in Adults with Core Lesions and Mild Musc...
Duarte, ST; Oliveira, J; Santos, R; Pereira, P; Barroso, C; Conceição, I; Evangelista, TINTRODUCTION: Ryanodine receptor gene (RYR1) mutations have been associated with central core disease (CCD), multiminicore/minicore/multicore disease (MmD), and susceptibility to malignant hyperthermia (MH). METHODS: Patients with muscle symptoms in adulthood, who had features compatible with CCD/MmD, underwent clinical, histological, and genetic (RYR1 and SEPN1 genes) evaluations. Published cases of CCD and Mm...
Familial amyloidotic polyneuropathy --Portuguese type-- clinical and neurophysi...
Conceição, I; Carvalho, M; Alves, M; Luís, M LSixteen (16) patients with Familial Amyloidotic Polyneuropathy-Portuguese Type (FAP) were evaluated longitudinally, using the EMG and Clinical protocols with the aim of establishing the clinical and neurophysiological evolution rate of FAP. We conclude that spontaneous evolution of FAP patients shows a linear progression. Clinical and neurophysiological evolution times are parallel, with the EMG scores being hi...
Carbon monoxide poisoning.
Conceição, I; de Mendonça, A; Alves, M; Fernandes, A; Coelho, HThe authors present a case of acute carbon monoxide (CO) poisoning, with associated cerebral, spinal and peripheral nerve lesions. The spinal lesion observed in our patient is a rare condition and, the association between cerebral ischemic lesions and spinal and peripheral nerve lesions has not been previously described. In this case the spinal cord lesion is of hemorrhagic type as shown by MRI. The authors dis...