Clinical manifestations of dystrophin gene (DMD) mutations are heterogeneous, ranging from the classic and severe Duchenne muscular dystrophy to asymptomatic individuals with hyperCK. We hereby present a patient with an atypical clinical presentation – distal asymmetric weakness of the upper limbs – caused by a novel mutation in the DMD gene. The patient is a male aged 58 years, without parental consanguinity, presenting weakness of right upper limb since 2001. In 2003 a symptomatic dilated cardiomyopathy was diagnosed and controlled with anti-arrhythmics and oral anticoagulation.

Read More...

Leave a comment.

Your email address will not be published. Required fields are marked*

Andoird App
Loading...