![]() ![]() There was weakness of proximal leg muscles (hip flexion 4/5 MRC, knee flexion 3–4/5) and wasting of the lower legs but preserved strength of foot extensors and flexors. His clinical examination revealed a decrease in visual acuity to 10% bilaterally (cc), bilateral eye abduction deficits (without diplopia) and vertical saccade slowing, saccadic pursuit movements, and a delayed direct and indirect pupillary response to light. Family history was unremarkable for neurological or psychiatric diseases. He underwent hip replacement 12-years ago due to severe hip arthrosis and had a revision after ceramic-head breakage. ![]() His previous medical conditions included polycythemia (tested negative for the JAK2-mutation V617V), a two-year history of diabetes mellitus (HbA1c 12%) with several recent episodes of hyperglycemia (blood glucose > 300 mg/dl), a novel diagnosis (last 3 months) of non-obstructive cardiomyopathy (biopsy revealed moderately active chronic lymphocytic myocarditis), bilateral hearing loss (recognized beginning at age 45), and visual impairment which was progressive for at least 7 years. ![]() Additional complaints included increased hair loss, reduced hair growth, and an undesired weight loss of 30 kg within the last year. A 53-year old male was referred to our outpatient clinic for rare neurological disease with a six-month history of hyp- and dysesthesias pronounced in the lower extremities, weakness of legs, and progressive unsteadiness of gait with frequent near falls. ![]()
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