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Summary
DUCHENNE MUSCULAR DYSTROPHY
MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC PROGRESSIVE, DUCHENNE AND BECKER TYPES MUSCULAR DYSTROPHY, CHILDHOOD PSEUDOHYPER
310200
OMIM = Online Medalian Inheritance of Men
262
Xp21.2, 12q21
  • antibiotics
  • corticosteroids
  • deflazacort
  • digoxin
  • high-caloric nutrition
  • immunization
  • physiotherapy
  • supportive/symptomatic therapy
  • ventilatory support
1:3000 X-linked recessive gene therapy (?)
symptoms
cardiomyopathy
muscle weakness
myopathy
onset, child
laboratory finding
Creatine kinase5000.0040000.0040.00400.00U/lserum
Literature
Bergeron Met al.The renal Fanconi syndromeThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.303691-37041995
Mitchell GAet al.HypertyrosinemiaThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.101077-11061995
Saudubray JMCharpentier CClinical phenotypes: diagnosis/algorythmsThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.10327-4001995
Dubose jr TDAlpern RJRenal tubular acidosis The metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.303655-36891995
Elsas LJet al.Autosomal recessive inheritance of renal glycosuriaMetabolism200968-9751971
Dubose jr TDAlpern RJRenal tubular acidosis The metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.303655-36891995
Mitchell GAet al.HypertyrosinemiaThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.101077-11061995