4 documents found, page 1 of 1
Generalized Epilepsy in a Patient with GBJ1 X-Linked Charcot-Marie-Tooth Disease
Monteiro, Isabel; Jesus-Ribeiro, Joana; B. Melo, Joana; Sales, Francisco; Geraldo, ArgemiroCharcot-Marie-Tooth (CMT) disease is an inherited neuropathy known for its genetic and phenotypic heterogeneity. Although unusual, the involvement of the central nervous system (CNS) has also been reported, including epilepsy. A 23-year-old man who at the age of 8 started to develop a gait disturbance. His neurological examination revealed distal weakness, muscular atrophy of the four limbs and decreased deep t...
National Post Hospital Care Project and Length of Hospitalization of Patients w...
Canha, Catarina; Massano, Ana; Esperto, Hélder; Rato, Joana; Ferreira, Teresa; Geraldo, ArgemiroIntroduction: The National Post Hospital Care Project was created to provide a continuity of care after hospitalization or to functionally dependent people. Currently there is a great difficulty in the integration of patients. The objective of this paper is to compare the impact of the referral to the Project versus being discharged home, in the length of stay of stroke patients between 2010 and 2011.Material a...
Distrofias Musculares das Cinturas autossómicas recessivas diagnosticadas nos H...
Negrão, Luis; Geraldo, Argemiro; Rebelo, Olinda; Matos, Anabela; Santos, Rosário; Bronze-da-Rocha, ElsaIntroduction Limb-girdle muscular dystrophies (LGMDs) are a hetero¬geneous group of muscle diseases. Autosomal dominant (LGMD1) and recessive (LGMD2) forms are recognized, each one with several subtypes. In Portugal there are no studies reporting the relative distribution of the different subtypes of LGMD2. Objective To determine the subtypes of LGMD2 diagnosed and their relative distribution at the Neurology D...
Private dysferlin exon skipping mutation (c.5492G>A) with a founder effect reve...
Santos, Rosário; Oliveira, Jorge; Vieira, Emília; Coelho, Teresa; Carneiro, António Leite; Evangelista, Teresinha; Dias, Cristina; Fortuna, AnaThe allelic muscle disorders known as limb-girdle muscular dystrophy type 2B (LGMD2B), Miyoshi myopathy and distal anterior compartment myopathy result from defects in dysferlin—a sarcolemma-associated protein involved in membrane repair. Mutation screening in the dysferlin gene (DYSF) enabled the identification of seven Portuguese patients presenting the variant c.5492G4A, which was observed to promote skippin...