Duchenne and Becker muscular dystrophies: an Estonian experience

• Published in: Brain & development (Tokyo. 1979) 1999-06, Vol.21 (4), p.244-247
• Main Authors: Talkop, Ülvi Astra, Klaassen, Tiina, Piirsoo, Andres, Sander, Valentin, Napa, Aita, Essenson, Ene, Tammur, Jaana, Talvik, Tiina
• Format: Article
• Language: English
• Subjects: Adolescent; Adult; Becker muscular dystrophy; Child; Child, Preschool; Cohort Studies; Creatine Kinase - blood; Duchenne muscular dystrophy; Dystrophin; Dystrophin - genetics; Dystrophin - metabolism; Estonia; Gene Deletion; Humans; Intellectual Disability - diagnosis; Male; Motor developmental delay; Movement Disorders - diagnosis; Muscle, Skeletal - metabolism; Muscular Dystrophies - diagnosis; Muscular Dystrophies - genetics; Muscular Dystrophies - metabolism; Prospective Studies; Retrospective Studies; Risk sign; Speech Disorders - diagnosis
• ISSN: 0387-7604; 1872-7131
• DOI: 10.1016/S0387-7604(99)00016-9

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.