This is a preprint, a preliminary version of a manuscript that has not completed peer review at a journal. Research Square does not conduct peer review prior to posting preprints. The posting of a preprint on this server should not be interpreted as an endorsement of its validity or suitability for dissemination as established information or for guiding clinical practice.
A new preprint design is coming!
We have improved readability, clarity, accessibility, and opportunities for engagement.
Research
Madoka Mori-Yoshimura
Department of Neurology, National Center Hospital
Corresponding Author
ORCiD: https://orcid.org/0000-0003-4312-9114
License:
This work is licensed under a CC BY 4.0 License. Read Full License
Background
GNE myopathy is a rare autosomal recessive adult-onset distal myopathy caused by biallelic pathogenic variants in GNE. Although some complications associated with GNE myopathy have been reported, little is known about whether they are disease-specific and how often they present. This study aimed to characterize complications of GNE myopathy.
Methods
We conducted a questionnaire survey of GNE myopathy patients registered in a national registry in Japan. The questionnaire requested information regarding immune thrombocytopenia (ITP), cardiac involvement, respiratory involvement, sleep apnea syndrome (SAS), and psychiatric diseases.
Results
The response rate was 62.4% (126/198), yielding a total of 51 male and 75 female participants. Of the participants, 4.1% (5/123) had a diagnosis of ITP, and 16.3% (8/49) of males and 6.6% of females (5/76) had a diagnosis of SAS. In total, 0.8% (1/126) of participants had pervasive developmental disorder and 14.7% (16/109) had a psychiatric disease.
Conclusion
The frequencies of ITP and SAS among Japanese GNE myopathy patients were higher than those observed in the general Japanese population. Routine blood tests and evaluation of sleep-disordered breathing should be considered in order to better manage GNE myopathy patients.
Keywords
muscle disease, immune thrombocytopenia, sleep apnea syndrome, GNE myopathy
Figure 1
Figure 2
This is a list of supplementary files associated with this preprint. Click to download.
- SupplementaryTable1.pdf
Questionnaire used in the survey
Loading...
Badges
Prescreen
This manuscript passed our Prescreen assessment
Complete author information
Appropriate declaration statements
Potential risks to human health
Prescreen
History
CURRENT STATUS: Posted
Version 1
Posted 07 Jan, 2021
No community comments so far
Metrics
Comments: 0
PDF Downloads: ...
HTML Views: ...
Subject Areas
Internal Medicine
Learn more about our company.
A new preprint design is coming!
We have improved readability, clarity, accessibility, and opportunities for engagement.
This is a preprint, a preliminary version of a manuscript that has not completed peer review at a journal. Research Square does not conduct peer review prior to posting preprints. The posting of a preprint on this server should not be interpreted as an endorsement of its validity or suitability for dissemination as established information or for guiding clinical practice.
Research
Madoka Mori-Yoshimura
Department of Neurology, National Center Hospital
Corresponding Author
ORCiD: https://orcid.org/0000-0003-4312-9114
Badges
Prescreen
This manuscript passed our Prescreen assessment
Complete author information
Appropriate declaration statements
Potential risks to human health
Prescreen
History
CURRENT STATUS: Posted
Version 1
Posted 07 Jan, 2021
No community comments so far
Metrics
Comments: 0
PDF Downloads: ...
HTML Views: ...
Subject Areas
Internal Medicine
License:
This work is licensed under a CC BY 4.0 License. Read Full License
Background
GNE myopathy is a rare autosomal recessive adult-onset distal myopathy caused by biallelic pathogenic variants in GNE. Although some complications associated with GNE myopathy have been reported, little is known about whether they are disease-specific and how often they present. This study aimed to characterize complications of GNE myopathy.
Methods
We conducted a questionnaire survey of GNE myopathy patients registered in a national registry in Japan. The questionnaire requested information regarding immune thrombocytopenia (ITP), cardiac involvement, respiratory involvement, sleep apnea syndrome (SAS), and psychiatric diseases.
Results
The response rate was 62.4% (126/198), yielding a total of 51 male and 75 female participants. Of the participants, 4.1% (5/123) had a diagnosis of ITP, and 16.3% (8/49) of males and 6.6% of females (5/76) had a diagnosis of SAS. In total, 0.8% (1/126) of participants had pervasive developmental disorder and 14.7% (16/109) had a psychiatric disease.
Conclusion
The frequencies of ITP and SAS among Japanese GNE myopathy patients were higher than those observed in the general Japanese population. Routine blood tests and evaluation of sleep-disordered breathing should be considered in order to better manage GNE myopathy patients.
Figure 1
Figure 2
This is a list of supplementary files associated with this preprint. Click to download.
- SupplementaryTable1.pdf
Questionnaire used in the survey
Loading...