ĐẶC ĐIỂM KIỂU HÌNH VÀ BẤT THƯỜNG DI TRUYỀN TRÊN BỆNH NHÂN LOẠN DƯỠNG CƠ DUCHENNE

Abstract

Duchenne muscular dystrophy is a progressive muscle-wasting disorder characterized by muscle weakness and atrophy. Identifying mutations in the DMD gene is of great significance for treatment, patient care, and genetic counseling for family members. We conducted a study on the clinical symptoms and gene sequencing results of patients diagnosed with Duchenne muscular dystrophy at Hanoi Medical University Hospital from January 2021 to May 2024. The study included five patients, with a mean age of 13.0 ± 9.8 years, a mean age of disease onset at 3.9 ± 2.1 years, and a mean age at diagnosis of 11.4 ± 10.6 years. All patients exhibited lower limb muscle weakness (100%), with 80% showing delayed motor milestones compared to peers, Gower's sign, pseudohypertrophy of the calves, Achilles tendon contractures, toe-walking, abnormal gait, and cognitive impairment. Additional symptoms included loss of ambulation, kyphosis/lordosis or scoliosis, and flat feet. Genetic abnormalities identified in the DMD gene included three point mutations (including 1 novel mutation c.3491G>A) and two exon deletion mutations.