Duchenne muscular dystrophy: Proved wrong after 20 years of clinical diagnosis.

Duchenne muscular dystrophy: Proved wrong after 20 years of clinical diagnosis.

This 18 yr old boy was clinically managed as Duchenne muscular dystrophy since 5-6 yrs of age by various doctors and neurologists in Ranchi. The features of increasing motor weakness beginning in lower limbs and gradually progressing upwards along with.

Highly Raised sr CPK indicated the diagnosis Dmd clinically. But the history against the Diag was 2 own elder sisters affected equally and ultimately death at 22 & 24 yrs of age was missed by many as females are usually carriers and do sent manifest except in tunrners syndrome and Lyons hypothesis suppression of one x chromosome.

Sisters cpk were high according to the father.

Due to above reason serious doubt is raised regarding Diag In this case as its impossible to have 2 girls affected.if it was then its  perhaps 1st such incidence in the world and needs reporting.

Due to doubt gene study was done for DMD but it came normal which could be false -ve as not all 80 mutations r studied in our labs so immunohistochemistry of affected muscle was studied which too came -be or normal. So almost 95% DMD was ruled out.

If any family with 2 or more severely affected own sisters by DMD is known then please let me know as its matter of research and discussion.