ABSTRACT

CASE PRESENTATION A 36-year-old gentleman was referred by a neurologist for ‘involuntary muscle twitching.’ This had begun at age 8. He could recall, when running the 40-yard dash, that the initial burst of speed off the line caused ‘spasm’ of the left limbs as well as ‘facial twitching’. The spasms continued without change through adulthood. They occurred exclusively at the initiation of physical activity, even just arising from a chair or rushing to answer a phone. While in the midst of exertion, he did not experience spasms nor did they occur at rest. They involved predominately the left limbs but at other times the right were also affected. The spasms typically lasted 30 seconds. He noticed more recently that the spasms were accompanied by a ‘dysphoric feeling’, and although there was no loss of consciousness, he had an admittedly difficult-to-describe sense during the spells of ‘almost like I’m not here in the moment’. He had noticed that shaking the left lower extremity could precipitate a spasm. In between the spells, he felt well and functioned at a normal level without neurological symptoms. Over the years he had become ‘a master’ at disguising the spasms, and did not seek medical attention until age 30. Initial diagnostic considerations included myotonia congenita and Tourette’s syndrome. Trials of clonazepam, gabapentin, topiramate, and baclofen were ineffective.