Evidence map›Paper›PMID 41633954›Full record

ArticleAnnals of Indian Academy of Neurology2026

Subclinical Respiratory Muscle Weakness and Obstructive Sleep Apnea are Common in Glucosamine-UDP-N-acetyl-2-epimerase / N-acetylmannosamine kinase (GNE) Myopathy.

Esen Kiyan, Aylin Pihtili, Hacer Durmus, Yesim Parman

Abstract read
In one paragraph

Article in Annals of Indian Academy of Neurology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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2 · The registry

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

4 authors.

Esen KiyanDepartment of Pulmonary Medicine, Istanbul University, Istanbul, Turkey.
Aylin PihtiliDepartment of Pulmonary Medicine, Istanbul University, Istanbul, Turkey.
Hacer DurmusDepartment of Neurology, Istanbul University, Istanbul, Turkey.
Yesim ParmanDepartment of Neurology, Istanbul University, Istanbul, Turkey.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Glucosamine-UDP-N-acetyl-2-epimerase / N-acetylmannosamine kinase (GNE) myopathy is a rare, slowly progressive myopathy primarily affecting distal muscles. Limited evidence suggests possible respiratory muscle weakness and obstructive sleep apnea (OSA). We aimed to assess daytime lung functions and OSA in GNE myopathy. Nine patients were evaluated by spirometry, maximal inspiratory pressure (MIP), maximal expiratory pressure, single-breath count (SBC), peak cough flow (PCF), arterial blood gases (ABG), sleep questionnaires, and polysomnography. All patients had normal spirometry and ABGs, but 55.6% had decreased MIP, 44.4% had decreased PCF, and 55.6% had SBC<20. Poor sleep quality was common (77.8%). OSA was present in 66.7% of the patients. In conclusion, subclinical respiratory muscle weakness and OSA were frequent in GNE myopathy patients with normal spirometry. Therefore, MIP, PCF, SBC, and polysomnography should be included in routine evaluation.

Indexed as

GNE myopathyobstructive sleep apneapolysomnographyrespiratory muscle weakness

Identifiers

PMID41633954
PMCPMC12962410

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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.