Between myopathy and mortality: Challenges in the diagnosis of PLOD1 -related kyphoscoliotic Ehlers-Danlos syndrome

Q: What does this research mean for the field?

PLOD1-related kyphoscoliotic Ehlers-Danlos syndrome frequently presents as congenital myopathy, which complicates diagnosis and can lead to underdiagnosis, particularly when the common PLOD1 duplication is missed by strict frequency filters in sequencing data. Novelty: ClaimNovelty.INCREMENTAL. Consensus alignment: ConsensusAlignment.NEUTRAL.

Katharina Vill; Theresa Brunet; Melanie Brügger; Matias Wagner; Matthias Baumann; Ulrich Schatz; Astrid Pechmann; Iris Hannibal; Moritz Tacke; Cecilia Giunta; Walter Wohlgemuth; Moritz Wildgruber; Wolfgang Müller‐Felber; Astrid Blaschek; Marianne Rohrbach; Veronika Huf

doi:10.1177/22143602261457531

August 29, 2026Journal of Neuromuscular DiseasesOpen Access

Between myopathy and mortality: Challenges in the diagnosis of PLOD1 -related kyphoscoliotic Ehlers-Danlos syndrome

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Key Points

To evaluate the clinical, imaging, and genetic diagnostic hurdles in PLOD1-related kyphoscoliotic Ehlers-Danlos syndrome, with a focus on childhood vascular complications and myopathy-like presentations.
Longitudinal clinical assessments were conducted in nine patients from seven families, including muscle ultrasound (n=6), vascular ultrasound (n=4), and urine pyridinoline analysis (n=7).
Genetic diagnostics utilized trio exome or genome sequencing, accompanied by a literature review and age-stratified recalculation of vascular event incidence across cohorts.
Seven of nine patients were initially misdiagnosed with congenital myopathy, and genetic detection of the exon 10–16 duplication failed in five families due to high-frequency filtering artifacts.
Severe vascular complications occurred in older individuals—including fatal aortic aneurysm rupture at 13 years, multiple aneurysms or dissections between 14–19 years, mesenteric dissection at 10 years, and neonatal intracranial hemorrhage—reflecting an overall childhood vascular event incidence of ~25%.
Urine pyridinoline analysis was abnormal in all tested patients (7 of 7), and muscle ultrasound identified abnormalities in five of six examined individuals.

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Implication

Cohort study reveals frequent misdiagnosis of PLOD1 kyphoscoliotic Ehlers-Danlos syndrome as myopathy, highlighting critical childhood vascular risks and sequencing pitfalls.

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Vill et al. (2026) studied this question.

synapsesocial.com/papers/6a93f14b6c1a8fb52e79e18c https://doi.org/10.1177/22143602261457531

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Between myopathy and mortality: Challenges in the diagnosis of PLOD1 -related kyphoscoliotic Ehlers-Danlos syndrome

Key Points

No abstract yet

Implication

Discussion

Cite This Study

Between myopathy and mortality: Challenges in the diagnosis of PLOD1 -related kyphoscoliotic Ehlers-Danlos syndrome

Key Points

No abstract yet

Implication

Discussion

Cite This Study

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