8 documents found, page 1 of 1
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...
Atypical phenotype in two patients with LAMA2 mutations
Marques, J; Duarte, ST; Costa, S; Jacinto, S; Oliveira, J; Oliveira, ME; Santos, R; Bronze-da-Rocha, E; Silvestre, AR; Evangelista, T; Calado, ECongenital muscular dystrophy type 1A is caused by mutations in the LAMA2 gene, which encodes the α2-chain of laminin. We report two patients with partial laminin-α2 deficiency and atypical phenotypes, one with almost exclusive central nervous system involvement (cognitive impairment and refractory epilepsy) and the second with marked cardiac dysfunction, rigid spine syndrome and limb-girdle weakness. Patients ...
Atypical Phenotype in Two Patients with LAMA2 Mutations
Marques, J; Duarte, S; Costa, S; Jacinto, S; Oliveira, J; Oliveira, M; Santos, R; Bronze-da-Rocha, E; Silvestre, AR; Calado, E; Evangelista, TCongenital muscular dystrophy type 1A is caused by mutations in the LAMA2 gene, which encodes the a2-chain of laminin. We report two patients with partial laminin-a2 deficiency and atypical phenotypes, one with almost exclusive central nervous system involvement (cognitive impairment and refractory epilepsy) and the second with marked cardiac dysfunction, rigid spine syndrome and limb-girdle weakness. Patients ...
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...
Progressive myositis ossificans. Stone man.
Fonseca, J E; Evangelista, T; Barroso, L; Reis, J; Gomes, A RMyositis ossificans progressiva (MOP) is a rare hereditary connective tissue disease, genetically inherited as an autossomal dominant trait with complete penetrance but variable expression. The onset usually takes place during childhood and progressive involvement of the spinal cord and proximal extremities leads to immobilization and articular dysfunction. We present a case of a 29-year-old woman with the typi...
Spinal epidural empyemas.
Evangelista, T; Pimentel, J; Antunes, J LWe report ten patients harbouring spinal epidural abscess, aiming to evaluate the factors that may lead to an early diagnosis and that can eventually influence the prognosis. There were seven males and 3 females, with ages comprised between 17 and 66 years. Abscesses were localised mainly in the dorsal region. The most important predisposing factors were infections or other disorders know to be related with com...
Acute polyradiculoneuritis associated with boutonneuse fever.
Evangelista, T; Pimentel, J; Luis, M de LWe have recorded three cases of Mediterranean fever harboring peripheral nerve involvement. According to the time of occurrence of the neurological symptoms, the cerebrospinal fluid analysis and electromyographic features, we admit that the peripheral nervous system can be involved in two ways in this disease. One due to the direct action of the pathogenic agent, giving place to a vasculitis. The other by an im...