Atypical Presentation of Hirayama Disease Involving the Cervico-Thoracic Segment Causing Diagnostic Dilemma: A Case Report

Abstract

Hirayama disease, also known as monomelic amyotrophy, usually affects young males who initially experience increasing muscle weakness and atrophy of the distal upper limb before experiencing a sudden plateauing of symptom progression a few years later. It is a form of cervical myelopathy characterized by self-limiting, asymmetrical lower motor weakness of the upper limbs affecting the hands and forearms. This condition is brought on by the cervical dural sac and spinal cord being abnormally displaced forward during neck flexion, which causes the anterior horn cells to atrophy. However, research into the precise process is ongoing. Patients presenting with such features with additional atypical symptoms, like back pain, weakness, atrophy and paresthesia of lower extremities cause a diagnostic dilemma. We describe a case of a male patient, age 21, who complained of weakness in both upper limbs mostly on the hand and forearm muscles along with weakness and deformity in both lower limbs. He was diagnosed with atypical Cervico-thoracic Hirayama disease and treated.