O'Sullivan-McLeod Syndrome: A Case Report

Yu Wang; Suyue Wang; Ping Jin; Yulong Zhu; Kun Xia; Dandan Sun; Wenlong AI; Xiaoming FU; Qunrong YE; Kai LI; Xun Wang

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O'Sullivan-McLeod Syndrome: A Case Report

VernacularTitle:O'Sullivan-McLeod综合征一例
Author: Yu WANG ¹ ; Suyue WANG ² ; Ping JIN ¹ ; Yulong ZHU ¹ ; Kun XIA ¹ ; Dandan SUN ¹ ; Wenlong AI ¹ ; Xiaoming FU ¹ ; Qunrong YE ¹ ; Kai LI ¹ ; Xun WANG ¹
Author Information

1. Department of Neurology, the Affiliated Hospital of Institute of Neurology, Anhui University of Chinese Medicine, Hefei 230061, China.
2. Department of Internal Medicine, Anhui Feidong County Hospital of Traditional Chinese Medicine, Hefei 231600, China.
Publication Type:Journal Article
Keywords: motor neuron disease; O'Sullivan-Mcleod syndrome; amyotrophic lateral sclerosis; muscle atrophy
From: JOURNAL OF RARE DISEASES 2022;1(2):189-195
CountryChina
Language:Chinese
Abstract: O'Sullivan-Mcleod syndrome is a very rare variant of MND with a good prognosis. Its clinical feature is distal lower motor neuron syndrome of both upper limbs, and there is no effective treatment at present. We reported a case of O'Sullivan-Mcleod syndrome in this paper.The patient exhibited with middle-aged progressive distal muscle weakness and atrophy of both upper limbs, without sensory, cognitive or behavioral impairment and without pyramidal tract sign. Laboratory examination, imaging and genetic tests showed no obvious abnormalities. EMG revealed neurogenic damage to the small muscles of both hands. Now we retrospectively analyzed the clinical features of a patient with O'Sullivan-McLeod syndrome, and data from 18 cases for comparative analysis, in order to improve its understanding by clinicians.