title: Guidelines for the diagnosis, treatment and clinical monitoring of patients with juvenile and adult Pompe disease.
abstract: Pompe disease (PD) is a potentially lethal illness involving irreversible muscle damage resulting from glycogen storage in muscle fiber and activation of autophagic pathways. A promising therapeutic perspective for PD is enzyme replacement therapy (ERT) with the human recombinant enzyme acid alpha-glucosidase (Myozyme®). The need to organize a diagnostic flowchart, systematize clinical follow-up, and establish new therapeutic recommendations has become vital, as ERT ensures greater patient longevity. A task force of experienced clinicians outlined a protocol for diagnosis, monitoring, treatment, genetic counseling, and rehabilitation for PD patients. The study was conducted under the coordination of REBREPOM, the Brazilian Network for Studies of PD. The meeting of these experts took place in October 2013, at L'Hotel Port Bay in São Paulo, Brazil. In August 2014, the text was reassessed and updated. Given the rarity of PD and limited high-impact publications, experts submitted their views.
authors.affiliation: Departamento de Genética Médica, FIOCRUZ, Rio de Janeiro, RJ, Brazil.
authors.forename: Juan Clinton
authors.initials: JC
authors.lastname: Llerena Junior
authors.affiliation: Departamento de Neurologia e NeuroUPC, Universidade Federal Fluminense, Rio de Janeiro, RJ, Brazil.
authors.forename: Osvaldo Jm
authors.initials: OJ
authors.lastname: Nascimento
authors.affiliation: Departamento de Neurologia, Universidade Federal de São Paulo, Sao Paulo, SP, Brazil.
authors.forename: Acary Souza B
authors.initials: AS
authors.lastname: Oliveira
authors.affiliation: Departamento de Neurologia, Universidade Federal do Rio Grande do Norte, Caiaco, RN, Brazil.
authors.forename: Mario Emilio T
authors.initials: ME
authors.lastname: Dourado Junior
authors.affiliation: Clínica Marrone, Porto Alegre, RS, Brazil.
authors.forename: Carlo D
authors.initials: CD
authors.lastname: Marrone
authors.affiliation: Departamento de Neurologia, Universidade de Cuiabá, Cuiaba, MT, Brazil.
authors.forename: Heloise Helena
authors.initials: HH
authors.lastname: Siqueira
authors.affiliation: Departamento de Neurociências, Universidade de São Paulo, Ribeirao Preto, SP, Brazil.
authors.forename: Cláudia F R
authors.initials: CF
authors.lastname: Sobreira
authors.affiliation: Hospital de Base do Distrito Federal, Brasilia, DF, Brazil.
authors.forename: Elza
authors.initials: E
authors.lastname: Dias-Tosta
authors.affiliation: Universidade Federal do Paraná, Curitiba, PR, Brazil.
authors.forename: Lineu Cesar
authors.initials: LC
authors.lastname: Werneck
mesh_terms: D000293:Adolescent; D000328:Adult; D003937:Diagnosis, Differential; D056947:Enzyme Replacement Therapy; D006009:Glycogen Storage Disease Type II / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics; D006801:Humans; D010808:Physical Examination / Q000379:methods; D017410:Practice Guidelines as Topic; D000520:alpha-Glucosidases / Q000627:therapeutic use*
chemical_list: C509951:GAA protein, human; D000520:alpha-Glucosidases