title: Duchenne muscular dystrophy and idiopathic hyperCKemia in the same family.
abstract: Familial hyperCKemia is a rare condition, and a combination with Duchenne muscular dystrophy (DMD) is extremely rare. A boy showed muscle weakness from the age of 10 months and presented typical signs of DMD at the age of 18 months. The diagnosis was supported by markedly elevated serum creatine kinase (CK) value as well as by neurophysiological and muscle biopsy findings at the age of 23 months. The diagnosis was confirmed by identification of a stop codon in exon 43 (p.2095Arg>X) of the dystrophin gene. Interestingly, the father and his near relatives had increased serum CK values without any clinical symptoms or signs, nor a defect in caveolin-3 gene. We suggest that the occurrence of familial hyperCKemia may have triggered the early onset of symptoms in our patient.
authors.affiliation: Department of Women's and Children's Health/Neuropaediatrics, University Children's Hospital, Uppsala, Sweden. orvar.eeg-olofsson@kbh.uu.se
authors.forename: Orvar
authors.initials: O
authors.lastname: Eeg-Olofsson
authors.forename: Hannu
authors.initials: H
authors.lastname: Kalimo
authors.forename: Karin Edebol
authors.initials: KE
authors.lastname: Eeg-Olofsson
authors.forename: Sten
authors.initials: S
authors.lastname: Jagell
authors.forename: Lena
authors.initials: L
authors.lastname: Marklund
authors.forename: Linda
authors.initials: L
authors.lastname: Simonsson
authors.forename: Niklas
authors.initials: N
authors.lastname: Dahl
mesh_terms: D001706:Biopsy; D002648:Child; D002675:Child, Preschool; D018388:Codon, Terminator / Q000235:genetics; D003402:Creatine Kinase / Q000097:blood*; D004252:DNA Mutational Analysis; D018450:Disease Progression; D016189:Dystrophin / Q000235:genetics; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D008659:Metabolic Diseases / Q000201:enzymology* / Q000235:genetics / Q000503:physiopathology; D018908:Muscle Weakness / Q000201:enzymology / Q000235:genetics / Q000503:physiopathology; D018482:Muscle, Skeletal / Q000201:enzymology / Q000473:pathology / Q000503:physiopathology; D020388:Muscular Dystrophy, Duchenne / Q000201:enzymology* / Q000235:genetics / Q000503:physiopathology; D009154:Mutation / Q000235:genetics; D015854:Up-Regulation / Q000235:genetics*
chemical_list: D018388:Codon, Terminator; D016189:Dystrophin; D005819:Genetic Markers; D003402:Creatine Kinase