AccScience Publishing / AN / Volume 3 / Issue 3 / DOI: 10.36922/an.3171
CASE REPORT

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

Yuxin Liu1 Shengyang Liu2 Sheng Yao3 Yun Yuan4 Xiaokun Qi3 Chenjing Sun3*
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1 Department of Neurology, Xuan Wu Hospital, Capital Medical University, Beijing, China
2 Department of Anesthesiology, Sixth Medical Center of PLA General Hospital, Beijing, China
3 Department of Neurology, Sixth Medical Center of PLA General Hospital, Beijing, China
4 Department of Neurology, Peking University First Hospital, Beijing, China
Advanced Neurology 2024, 3(3), 3171 https://doi.org/10.36922/an.3171
Submitted: 14 March 2024 | Accepted: 23 July 2024 | Published: 20 August 2024
© 2024 by the Author(s). This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution 4.0 International License ( https://creativecommons.org/licenses/by/4.0/ )
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.

Keywords
Nemaline myopathy
Pyramidal tract
High arches
Oligospermia
Muscle pathology
Funding
None.
Conflict of interest
The authors declare that they have no competing interests.
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Advanced Neurology, Electronic ISSN: 2810-9619 Print ISSN: 3060-8589, Published by AccScience Publishing