We report 4 members of the same family with muscle hypertrophy and cramps. They all presented with hip dysplasia at birth and rapidly developed significant muscle hypertrophy in infancy with unusual strength. The older members later developed refractory cramps despite Dantrolene. Some presented spontaneous rhabdomyolysis and heat intolerance during summer. Non dystrophic myotonias genes were tested and came back negative They were all found with an autosomal dominant known RYR1 mutation (p.Arg4737Trp).

Read More...

Leave a comment.

Your email address will not be published.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

Andoird App
Loading...