Evidence map›Paper›PMID 35501818›Full record

ArticleBMC neurology2022

Myasthenia gravis coexisting with HINT1-related motor axonal neuropathy without neuromyotonia: a case report.

Jia Fang, Hui Huang, Qiang Lei, Yingying Luo, Zhengchu Tang, Xiaoliu Shi, Jian Guang Tang

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in BMC neurology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.2field-weighted citation impact, top 46% of its field
1 · What the graph read from it

What it found

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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

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Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed, 2 citations in OpenAlex.

  1. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

7 authors at 1 institution in 1 country.

Jia FangDepartment of Neurology, The Second Xiangya Hospital, Central South University, Changsha, Hunan, China.
Hui HuangDepartment of Medical Genetics, The Second Xiangya Hospital, Central South University, Changsha, Hunan, China.
Qiang LeiDepartment of Neurology, The Second Xiangya Hospital, Central South University, Changsha, Hunan, China.
Yingying LuoDepartment of Neurology, The Second Xiangya Hospital, Central South University, Changsha, Hunan, China.
Zhengchu TangDepartment of Neurology, The Second Xiangya Hospital, Central South University, Changsha, Hunan, China.
Xiaoliu ShiDepartment of Medical Genetics, The Second Xiangya Hospital, Central South University, Changsha, Hunan, China.
Jian Guang TangDepartment of Neurology, The Second Xiangya Hospital, Central South University, Changsha, Hunan, China. jianguang_tang@csu.edu.cn.ORCID http://orcid.org/0000-0002-7390-1286
Central South University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundHINT1 mutations cause an autosomal recessive axonal neuropathy with neuromyotonia. This is a first case report of coexistence of myasthenia gravis (MG) and HINT1-related motor axonal neuropathy without neuromyotonia. CASE PRESENTATION: A 32-year-old woman presented with recurrent ptosis for 8 years, diplopia for 2 years and limb weakness for 1 year and a half. Neostigmine test, elevated AChR antibody level and positive repetitive nerve stimulation supported the diagnosis of MG. Electroneurography (ENG) and electromyography (EMG) examinations revealed a motor axonal neuropathy without neuromyotonic or myokymic discharges. Next-generation sequencing and Sanger sequencing were performed to identify the gene responsible for suspected hereditary neuropathy. Genetic testing for a HINT1 mutation was performed and revealed a homozygous mutation at c.278G>T (p. G93V). The patient was treated with pyridostigmine, oral prednisolone and azathioprine. Her ptosis and diplopia have significantly improved at 6-month follow-up.

conclusionsConcurrence of MG and hereditary motor axonal neuropathy without neuromyotonia is quite rare. Detection of ptosis with or without ophthalmoplegia, distribution of limb weakness, and reflex can help in recognizing the combination of MG and peripheral neuropathy. Early diagnosis is important for initial treatment and prognosis. The novel homozygous variant c.278G>T(p.G93V) contributes to the pathogenic variants spectrum of the HINT1 gene.

Indexed as

Isaacs SyndromeMyasthenia GravisPeripheral Nervous System DiseasesAdultDiplopiaFemaleHumansMuscle WeaknessNerve Tissue ProteinsHINT1 protein, humanNerve Tissue ProteinsCase reportHINT1Motor axonal neuropathyMyasthenia gravisNext-generation sequencingNovel

Identifiers

PMID35501818
PMCPMC9063049
OpenAlexW4225383442

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.