An Interesting Case of Multiple Epiphyseal Dysplasia Masquerading as Myopathy in a Southeast Asian Girl

Multiple epiphyseal dysplasia (MED) though one of the common skeletal dysplasias leads to a diagnostic dilemma. This is because the initial presentation is subtle in most of the cases which mimics other disorders like myopathies and rheumatological conditions. We present a case of a ten-year-old girl whose initial symptoms led to an extensive workup of myopathies yielding no conclusion. The final answer to the diagnosis was found through a genetic test. Most of the MED cases are because of mutation in the autosomal dominant gene which has variable penetrance leading to the absence of any family history. In this case too, family history was not significant.