title: Limb-girdle syndrome: a genetic study of 22 large Brazilian families. Comparison with X-linked Duchenne and Becker dystrophies.
abstract: The differential clinical diagnosis between the X-linked muscular dystrophies (DMD and BMD) and autosomal recessive limb-girdle muscular dystrophy (LGMD), which is extremely important for genetic counseling, may be very difficult. The aim of the present report is to describe clinical and laboratory findings in patients from large families, with AR inheritance, in an attempt to characterize better cases which have been diagnosed as LGMD compared with the X-linked forms. The main features analysed are: age of onset and of confinement to a wheelchair, reproductive performance, serum enzymes (CK and PK) and dystrophin assessment (through immunohistochemistry and Western blot). Twenty-two families, with 62 affected patients diagnosed as limb-girdle muscular dystrophy, were included in this report. In 19 families, the patients had a milder clinical course, while in the remaining 3, the progression of the disease was continuous and clinically similar to X-linked DMD ("DMD-like"). A high consanguinity rate was observed among the parents of the affected patients (77%). No major clinical difference was observed between the X-linked and the AR forms. However, muscle dystrophin was found qualitatively and quantitatively normal in the autosomal forms but absent or abnormal in the X-linked ones. The reproductive performance was significantly higher for male than female patients. In addition, a surprising finding was the significantly greater fitness estimated for male LGMD cases as compared with Becker patients of comparable age studied in our center. The implications of such findings are discussed.
authors.affiliation: Departamento de Biologia, Universidade de São Paulo, Brazil.
authors.forename: M R
authors.initials: MR
authors.lastname: Passos-Bueno
authors.forename: M
authors.initials: M
authors.lastname: Vainzof
authors.forename: R de C
authors.initials: Rde C
authors.lastname: Pavanello
authors.forename: I
authors.initials: I
authors.lastname: Pavanello-Filho
authors.forename: M A
authors.initials: MA
authors.lastname: Lima
authors.forename: M
authors.initials: M
authors.lastname: Zatz
mesh_terms: D000293:Adolescent; D000328:Adult; D001938:Brazil; D002648:Child; D002675:Child, Preschool; D003402:Creatine Kinase / Q000097:blood; D003937:Diagnosis, Differential; D005260:Female; D005808:Genes, Recessive; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D008875:Middle Aged; D009132:Muscles / Q000473:pathology; D009136:Muscular Dystrophies / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D011770:Pyruvate Kinase / Q000097:blood; D013577:Syndrome; D014960:X Chromosome
chemical_list: D011770:Pyruvate Kinase; D003402:Creatine Kinase