J. Reimann, S. Paus, Neuromuscular Disorders, Volume 27, Supplement 2, October 2017, Page S243, ISSN 0960-8966, doi:10.1016/j.nmd.2017.06.531.
We present these exemplary cases to increase awareness of these disorders and the differential diagnosis for those working in neuromuscular clinics, as well as an incentive for more interaction with the movement disorder field, in particular when struggling to define a diagnosis. We also observe a number of referrals that turn out to be movement disorders. In some, this is caused by known neuromuscular manifestations while missing the CNS signs. Examples are our cases of Huntington’s disease presenting with weakness, pain and atrophy of the calves and of Friedreich ataxia send for work-up of sensory axonal neuropathy and scoliosis, where “restlessness” and “nasal speech”, respectively, were ignored as symptoms. In others, the attribution of the pathophysiology to muscle is simply wrong.
Tuesday, September 19, 2017
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