Duchenne Muscular Dystrophy in Three Male Siblings: A Rare Case Report
Kashif Siddiq Ramay
Keywords: Myopathy; Muscular dystrophy, Gower’s sign
INTRODUCTION:
Three male siblings 7,9, and 11 years old, presented to our orthopedic department with the inability to stand and walk even with support. According to history, weakness started gradually between 4 to 6 years of age in each boy, involving the lower limbs first and progressing in severity over time, and then involved the upper limbs later on. There was no family history of such a problem, and no consanguineous marriage of their parents. This uneducated family with poor socio-economic status was consulting religious leaders for the treatment of their children and was unaware of the diagnosis. The intelligence status of the boys was normal, and they did not give a history of any muscular pains. Positive Gower’s sign, along with calf muscle hypertrophy, was noted on physical examination. Requested serological analysis revealed CK (creatine kinase) levels elevated (9142 IU/L, 8951U/L, and 7836 IU/L) to many folds.
Electromyographic findings were abnormal in all three children, supporting the diagnosis of myopathy. Diagnosis of myopathy was established on the basis of the history, examination, elevated CK levels, and electromyography. Parents were counselled about the disease. Corticosteroid therapy, physiotherapy, and regular follow-up for respiratory problems use of intermittent positive pressure ventilation, were advised
DISCUSSION:
DMD (Duchenne muscular dystrophy) was first described in the 1860s by Guillaume Benjamin Amand Duchenne, a French neurologist. It is an X- X-linked progressive myopathy with recessive transmission and affecting 1 in 3500 male births.1,2
The failure of the dystrophin gene coding due to a defect in the X chromosome results in loss of dystrophin protein synthesis & function, which leads to destruction of muscle fibers and replacement by fibrofaty tissue.3 DMD patients may have 200-300- fold high levels of serum creatine kinase (Normal 35–174 U/L).4
Keywords: Myopathy; Muscular dystrophy, Gower’s sign