Congenital Clubfoot as an Early Manifestation of Duchenne Muscular Dystrophy?

BACKGROUND

Duchenne muscular dystrophy (DMD) is the most common X-linked progressive neuromuscular disorder of childhood. The classic course of DMD is characterized by onset after a period of normal motor development. However, in recent years, evidence has been accumulating of prodromal features of the disease, including speech delays and neurocognitive impairments.

METHODS

This study investigates whether congenital bilateral clubfoot may represent the first clinical manifestation of DMD.

RESULTS

We present two cases of male patients with congenital bilateral clubfoot who were subsequently diagnosed with DMD. We demonstrate the high efficacy and safety of the Ponseti method for correcting foot deformities in these patients. We discuss a possible pathogenic link between dystrophin deficiency and impaired intrauterine myogenesis.

CONCLUSIONS

This is the first report of an association between congenital clubfoot and DMD, highlighting the need for expanded early diagnostic protocols for boys presenting with idiopathic clubfoot.