A case report of early outpatient stage of Duchenne muscular dystrophy

Duchenne muscular dystrophy is an orphan disease that belongs to the group of severe hereditary diseases affecting primarily skeletal muscles, characterized by a progressive disabling course. Duchenne muscular dystrophy is an X-linked recessive disease caused by mutations in the DMD gene, resulting in the absence or insufficient function of dystrophin. The disease has several stages with early and late clinical manifestations, as well as characteristic laboratory markers – increased activity of creatine phosphokinase, ALT and AST. The clinical case presented in the article demonstrates the late diagnosis of the early outpatient stage of Duchenne muscular dystrophy. The existing clinical symptoms: a slight delay in physical development in the first year of life, the appearance of tightness in the calf muscles from the age of 2.5 years, long-term observation by an orthopedist and correction of the existing equinovalgus deformity of the feet are classic clinical markers of the early outpatient stage of the disease. The addition of motor awkwardness in the dynamics, the use of the Gowers maneuver when standing up, changes in posture in the form of moderate kyphosis and pronounced lordosis, changes in gait with an expanded support base, periodic walking “on tiptoes” did not serve as a reason for further examination of the boy in terms of excluding muscular dystonia. Carrying out a clinical examination in a preschool institution allowed the neurologist to diagnose increased levels of CPK by 200 times and LDH by 100 times. Subsequently, during a molecular genetic examination at the Research Centre for Medical Genetics, a deletion of exons 46–52 of the DMD gene (NM_004006.2:c.(6614+1_6615-1)_(7660+1_7661-1)del) in a hemizygous state was discovered, which confirmed the diagnosis of Duchenne muscular dystrophy. Pathogenetic treatment has been started.