[The heartache of muscular dystrophy].
Duchenne and Becker muscular dystrophy are caused by a mutation in the dystrophin gene, located on the short arm of the X chromosome. Three so called dystrophinopathy patients, a women aged 54 and two men aged 23 and 21 years, suffered from a severe dilated cardiomyopathy. Such a cardiomyopathy can develop in both carriers and patients. In addition, it is often more important for prognosis than muscle weakness. For these two reasons it is important to screen both groups for (early) cardiological abnormalities. If these are present, regular follow-up is necessary to start timely therapy. When cardiological investigations yield normal results, it is advised to screen carriers with a five-year interval. Dystrophinopathy patients should be checked every year, because the cardiomyopathy sometimes develops and deteriorates over a short period of time. Patients with dilated cardiomyopathy and with a positive family history for dilated cardiomyopathy, muscle weakness or high serum creatine kinase activity should be screened for a mutation in the dystrophin gene.
Hoogerwaard
E M
EM
Afd. Neurologie, Academisch Medisch Centrum/Universiteit van Amsterdam. e.hoogerwaard@amc.uva.nl
Ginjaar
H B
HB
Wilde
A A
AA
Leschot
N J
NJ
de Voogt
W G
WG
de Visser
M
M
D000328:Adult; D002311:Cardiomyopathy, Dilated / Q000235:genetics*; D003402:Creatine Kinase / Q000097:blood; D003937:Diagnosis, Differential; D016189:Dystrophin / Q000235:genetics*; D017809:Fatal Outcome; D005260:Female; D008040:Genetic Linkage; D005820:Genetic Testing; D006801:Humans; D008297:Male; D008875:Middle Aged; D018908:Muscle Weakness / Q000235:genetics; D020388:Muscular Dystrophy, Duchenne / Q000097:blood / Q000150:complications / Q000175:diagnosis* / Q000235:genetics*; D009154:Mutation; D009212:Myoglobinuria / Q000235:genetics; D010641:Phenotype; D014960:X Chromosome / Q000235:genetics
D016189:Dystrophin; D003402:Creatine Kinase