A cervical myelopathy with a Hirayama disease-like phenotype

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Abstract

A 21-year-old man with a muscular atrophy of the left distal upper extremity is presented. The disorder had been progressive over a few years, showing an exacerbation of the hand's weakness when the patient worked in a chilled environment (i.e., in a cold room). The patient's diagnostic work-up was extensive and the MRI documented the presence of a cervical myelopathy, associated to an inversion of the physiological lordosis at the C5-C6 level, with a phenotype highly resembling Hirayama disease. This case indirectly supports the debated hypothesis that juvenile amyotrophy of the upper limb (Hirayama disease) is actually a type of cervical myelopathy, with a likely ischaemic pathogenesis of the ventral horns.

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