Page 137 - AN-3-3

Advanced Neurology

CASE REPORT
Rare abnormality of pyramidal tract and

oligospermia as a presenting sign of nemaline
myopathies: A case report

Yuxin Liu , Shengyang Liu , Sheng Yao , Yun Yuan , Xiaokun Qi ,
2
1
3
4
3
and Chenjing Sun *
3
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

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
*Corresponding author: stairs and mountains, exhibited poorer walking and running abilities compared to
Chenjing Sun his peers, and easily felt fatigued, though relieved after resting. Oligospermia was
(sunchenjing83@hotmail.com) diagnosed in adulthood. He was initially diagnosed with motor neuron disease, most
Citation: Liu Y, Liu S, Yao S, likely Kennedy disease. Nemaline myopathy was definitively diagnosed through
Yuan Y, Qi X, Sun C. Rare muscle pathology examination and gene sequencing conducted at our institution.
abnormality of pyramidal tract and
oligospermia as a presenting sign This case report underscores the importance of considering a diagnosis of nemaline
of nemaline myopathies: A case myopathy in cases where pyramidal tract damage and oligospermia, though
report. Adv Neuro. 2024;3(3):3171. exceedingly rare, coexist.
doi: 10.36922/an.3171
Received: March 14, 2024
Keywords: Nemaline myopathy; Pyramidal tract; High arches; Oligospermia; Muscle
Accepted: July 23, 2024 pathology
Published Online: August 20, 2024
Copyright: © 2024 Author(s).
This is an Open-Access article
distributed under the terms of the 1. Introduction
Creative Commons Attribution
License, permitting distribution, Nemaline myopathy is a rare congenital myopathy characterized by rod-like structures
and reproduction in any medium, within skeletal muscle fibers. Abnormal fiber size variation is often present and may
1
provided the original work is
properly cited. appear as fiber type disproportion. Nemaline myopathy represents a genetically and
clinically diverse group of disorders.
Publisher’s Note: AccScience
Publishing remains neutral with To date, over 10 mutant genes correlated with nemaline myopathy have been
regard to jurisdictional claims in 2
published maps and institutional identified. The NEB gene encodes nebulin, an enormous molecular protein that spans
affiliations. across thin filaments. It anchors these filaments to the intermyofibrillar network and

Volume 3 Issue 3 (2024) 1 doi: 10.36922/an.3171