Duchenne muscular dystrophy and idiopathic hyperCKemia in the same family.
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.
Eeg-Olofsson
Orvar
O
Department of Women's and Children's Health/Neuropaediatrics, University Children's Hospital, Uppsala, Sweden. orvar.eeg-olofsson@kbh.uu.se
Kalimo
Hannu
H
Eeg-Olofsson
Karin Edebol
KE
Jagell
Sten
S
Marklund
Lena
L
Simonsson
Linda
L
Dahl
Niklas
N
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*
D018388:Codon, Terminator; D016189:Dystrophin; D005819:Genetic Markers; D003402:Creatine Kinase