Indian Pediatrics 2002; 39: 98  

Duchenne Muscular Dystrophy in a Female Child

Duchenne muscular dystrophy (DMD) is the most common hereditary neuromuscular disease. It is inherited as X-linked recessive trait wherein usually males are affected and females are the carriers; but it can also manifest in females. Occurrence of symptomatic disease in girls is explained by the Lyons hypothesis in which the normal X chromosome becomes inactivated and one with the gene deletion is activated. The full clinical picture of DMD has been described in children with Turner syndrome. I encountered a child with clinical features of DMK without signs of Turner syndrome.

A 7-year-old girl was born to parents with history of consanguineous marriage. There was history of repeated falls, difficulty in getting up and poor performance in the school. On clinical examination she was mentally subnormal, had a prominence of calf muscles (pseudo-hyper-trophy) (Fig. 1) and Gower’s sign (Fig. 2) was positive. In Gower’s sign, the child turns to its side, lifts its trunk up by supporting its weight on the arms then stands up as if climbing upon its body by supporting it with the hands. Her creatinine kinase level was 27,320 IU/L. Her X-ray chest and ECG were normal. Hence a diagnosis of DMK in a female child was made on the basis of clinical profile and raised CPK enzyme levels. Her younger brother a 4-years old male also had slightly prominent calf muscles with creatinine kinase level of 19,900 IU/L suggestive of DM.

Fig.1. Photograph showing prominence of calf muscles.

Fig. 2. Gower’s sign.

Sanjeev Joshi,
Pediatrician, CSI German Hospital,
Gadag - Betgeri 582 101,
 Karnataka, India.