An unusual gait and facies point to a rare disease

Seemingly mild presentations lead to a diagnosis.

Simon initially presented 10 years ago. Back then, he was 48 years old and had recently stopped working as a labourer for the local council.

He lived in an isolated area out of town and presented to his GP because walking was becoming more difficult due to bilateral leg pain.

Simon described having problems with his balance, but denied any falls.

Simon was not able to offer much in the way of past medical history, but remembered missing a lot of school through illness, though he was unable to provide further details.

Simon’s loss of schooling meant he was barely literate or numerate.

He had been protected by his family all his life. His mother had recently died and this was likely a key factor in the timing of this latest presentation.


Simon had an unusual gait; he walked with small steps standing only on his toes and swayed