ArticleFrontiers in neurology2023
Case report: Mohr-Tranebjaerg syndrome: hearing impairment as the onset of an insidious disorder with high recurrence risk.
Article in Frontiers in neurology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers, 1 of them a synthesis that pooled it.
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Who cites it
3 citing papers in PubMed, 1 synthesis or guideline pooled it, 2 citations in OpenAlex.
- XLA-MTS: a distinct clinical genetic entity characterized by immunodeficiency and neurodevelopmental delay.Orphanet journal of rare diseases · 2026Pooled it
- Deep brain stimulation in dystonia-deafness syndrome with TIMM8A mutation.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025Article
- Strabismus in Genetic Syndromes: A Review.Clinical & experimental ophthalmology · 2025Review
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Authors and funding
5 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mohr-Tranebjaerg syndrome (MTS) is an X-linked recessive disorder caused by Case report: A 31 years-old male developed psychiatric symptoms at age 18 and presented early onset dementia. Sensorineural hearing loss had been diagnosed in childhood. At 28yo, he developed dysarthria, dysphonia, dysmetria, limb hyperreflexia, dystonia, and spasticity following an acute encephalopathic crisis. WES revealed a hemizygous novel likely pathogenic variant in Discussion: Hearing loss, an early sign of MTS due to auditory neuropathy, can often be overlooked until more severe features of the disorder manifest. Recurrence risk is high for female carriers, and reproductive options should be offered. Early monitoring of hearing and vision loss and neurological impairment in MTS patients is mandatory since early interventions may positively impact their development. This family showcases the importance of performing a timely etiological investigation of hearing loss and its impact on genetic counseling.
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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.