Rare abnormality of pyramidal tract and oligospermia as a presenting sign of nemaline myopathies: A case report

Abstract

Nemaline myopathies constitute a significant portion of congenital or structural myopathies. It is characterized by typically non-progressive or slowly progressive generalized muscle weakness. However, abnormalities of the pyramidal tract are uncommon. To investigate the relevant clinical, pathological, and genetic characteristics, we gathered clinical data from a patient with nemaline myopathy with motor neuron disease and oligospermia, which were confirmed by muscle pathology examination and gene sequencing. This report describes a 35-year-old Chinese male who had been experiencing limb weakness, primarily in the lower limbs, since childhood. He occasionally stumbled while walking, faced difficulties climbing stairs and mountains, exhibited poorer walking and running abilities compared to his peers, and easily felt fatigued, though relieved after resting. Oligospermia was diagnosed in adulthood. He was initially diagnosed with motor neuron disease, most likely Kennedy disease. Nemaline myopathy was definitively diagnosed through muscle pathology examination and gene sequencing conducted at our institution. This case report underscores the importance of considering a diagnosis of nemaline myopathy in cases where pyramidal tract damage and oligospermia, though exceedingly rare, coexist.