Glucocorticoid therapy in a non-ambulant six-year-old boy with Duchenne muscular dystrophy

Aims: Duchenne muscular dystrophy is a X-linked rapidly progressive form of muscular dystrophies with an incidence of about 1:3500 male newborns. The disease is characterised by a continuous progressive course with loss of ambulance around nine to ten years of life. Symptoms usually appear before the age of 6 but also as early as infancy. They may include delay of motor, mental and speech skills. The boys usually show pseudohypertrophic calf muscles as well as worsening muscle weakness, frequent falls, positive phenomenon of Gowers and a dull gait. There is no known cure so far, but a drug therapy with steroids to start at the age of five in usually ambulant patients is recommended. Aim is to slow the decline of muscle strength and function

Patient und methods: We report on a boy first seen in our outpatient clinic at the age of two years. In the context of a common cold blood samples were taken and showed a markedly increased result of creatine kinase level of about 36000U/l. Genetic analysis (sequencing) showed a deletion of two bases in exon 27 in the dystrophin gene leading to an out-of-frame-mutation confirming the diagnosis of Duchenne muscular dystrophy. Until this age the boy showed a motor delay in sitting stable (age 27 months), in crawling (age 30 months), in babble (age 12 months). Until the age of six he wasn't able to walk independently, only a few steps with assistance. Nevertheless we decided to treat the patient with daily Deflazacort (0.9mg/kg daily). The next four to six weeks he started to walk independently and by that he improved his social skills.

Conclusion: Despite missing values or standards in non ambulant patients with a very early manifestation with Duchenne muscular dystrophy a medical treatment with steroids should be considered. Although there is no evidence, we think the acquisition of ambulance might be a consequence of steroid therapy.