Duchenne and Becker muscular dystrophies: an Estonian experience.
The clinical and molecular features of 25 Duchenne (DMD), two intermediate (D/BMD) and three Becker (BMD) muscular dystrophy patients from 26 unrelated families were evaluated. Early psychomotor development was normal in patients with D/BMD and BMD. Learning to walk independently after 15 months of age was a risk sign of DMD in nine (36%) patients. Abnormality in crawling was seen in 13 (54%) patients with DMD. These boys demonstrated initial symptoms earlier than those who learned to crawl normally. Mental retardation was established in five (20%) patients with DMD. Deletions in the dystrophin gene were found in 11 families (48%). They were accumulated (9/11, 82%) in the distal region of the gene.
Talkop
U A
UA
Department of Pediatrics, Tartu University, Estonia.
Klaassen
T
T
Piirsoo
A
A
Sander
V
V
Napa
A
A
Essenson
E
E
Tammur
J
J
Talvik
T
T
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D003402:Creatine Kinase / Q000097:blood; D016189:Dystrophin / Q000235:genetics / Q000378:metabolism; D004957:Estonia; D017353:Gene Deletion; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis; D008297:Male; D009069:Movement Disorders / Q000175:diagnosis; D018482:Muscle, Skeletal / Q000378:metabolism; D009136:Muscular Dystrophies / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D011446:Prospective Studies; D012189:Retrospective Studies; D013064:Speech Disorders / Q000175:diagnosis
D016189:Dystrophin; D003402:Creatine Kinase