Clinical aspects of patients with sarcoglycanopathies under steroids therapy. 2014

Marco A V Albuquerque, and Osório Abath-Neto, and Jéssica R Maximino, and Gerson Chadi, and Edmar Zanoteli, and Umbertina C Reed
Departamento de Neurologia, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brazil.

Patients with sarcoglycanopathies, which comprise four subtypes of autosomal recessive limb-girdle muscular dystrophies, usually present with progressive weakness leading to early loss of ambulation and premature death, and no effective treatment is currently available. OBJECTIVE To present clinical aspects and outcomes of six children with sarcoglycanopathies treated with steroids for at least one year. METHODS Patient files were retrospectively analyzed for steroid use. RESULTS Stabilization of muscle strength was noted in one patient, a slight improvement in two, and a slight worsening in three. In addition, variable responses of forced vital capacity and cardiac function were observed. CONCLUSIONS No overt clinical improvement was observed in patients with sarcoglycanopathies under steroid therapy. Prospective controlled studies including a larger number of patients are necessary to determine the effects of steroids for sarcoglycanopathies.

UI MeSH Term Description Entries
D008297 Male Males
D011239 Prednisolone A glucocorticoid with the general properties of the corticosteroids. It is the drug of choice for all conditions in which routine systemic corticosteroid therapy is indicated, except adrenal deficiency states. Di-Adreson-F,Predate,Predonine,Di Adreson F,DiAdresonF
D011282 Pregnenediones Unsaturated pregnane derivatives containing two keto groups on side chains or ring structures. Diketopregnenes,Dioxopregnenes
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D005260 Female Females
D005938 Glucocorticoids A group of CORTICOSTEROIDS that affect carbohydrate metabolism (GLUCONEOGENESIS, liver glycogen deposition, elevation of BLOOD SUGAR), inhibit ADRENOCORTICOTROPIC HORMONE secretion, and possess pronounced anti-inflammatory activity. They also play a role in fat and protein metabolism, maintenance of arterial blood pressure, alteration of the connective tissue response to injury, reduction in the number of circulating lymphocytes, and functioning of the central nervous system. Glucocorticoid,Glucocorticoid Effect,Glucorticoid Effects,Effect, Glucocorticoid,Effects, Glucorticoid
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D012189 Retrospective Studies Studies used to test etiologic hypotheses in which inferences about an exposure to putative causal factors are derived from data relating to characteristics of persons under study or to events or experiences in their past. The essential feature is that some of the persons under study have the disease or outcome of interest and their characteristics are compared with those of unaffected persons. Retrospective Study,Studies, Retrospective,Study, Retrospective
D016896 Treatment Outcome Evaluation undertaken to assess the results or consequences of management and procedures used in combating disease in order to determine the efficacy, effectiveness, safety, and practicability of these interventions in individual cases or series. Rehabilitation Outcome,Treatment Effectiveness,Clinical Effectiveness,Clinical Efficacy,Patient-Relevant Outcome,Treatment Efficacy,Effectiveness, Clinical,Effectiveness, Treatment,Efficacy, Clinical,Efficacy, Treatment,Outcome, Patient-Relevant,Outcome, Rehabilitation,Outcome, Treatment,Outcomes, Patient-Relevant,Patient Relevant Outcome,Patient-Relevant Outcomes
D058088 Sarcoglycanopathies Deficiencies or mutations in the genes for the SARCOGLYCAN COMPLEX subunits. A variety of phenotypes are associated with these mutations including a subgroup of autosomal recessive limb girdle muscular dystrophies, cardiomyopathies, and respiratory deficiency. Adhalinopathies,Adhalinopathy, Primary,Alpha-Sarcoglycanopathies,Alpha-Sarcoglycanopathy,Duchenne-Like Autosomal Recessive Muscular Dystrophy, Type 2,LGMD2D,Limb-Girdle Muscular Dystrophy, Type 2D,Muscular Dystrophy Limb-Girdle with Alpha-Sarcoglycan Deficiency,Muscular Dystrophy, Limb-Girdle, Type 2D,Sarcoglycanopathy,Adhalinopathies, Primary,Alpha Sarcoglycanopathies,Alpha Sarcoglycanopathy,Duchenne Like Autosomal Recessive Muscular Dystrophy, Type 2,Limb Girdle Muscular Dystrophy, Type 2D,Muscular Dystrophy Limb Girdle with Alpha Sarcoglycan Deficiency,Primary Adhalinopathies,Primary Adhalinopathy

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