ArticleBMJ open2019
Prevalence of Charcot-Marie-Tooth disease across the lifespan: a population-based epidemiological study.
Article in BMJ open, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 1 of them a synthesis that pooled it.
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
21 citing papers in PubMed, 1 synthesis or guideline pooled it, 40 citations in OpenAlex.
- A meta-analysis on the prevalence of Charcot-Marie-Tooth disease and related inherited peripheral neuropathies.Journal of neurology · 2023Pooled it
- Spectrum of Hereditary Neuropathies in Adult Patients From Serbia.Journal of the peripheral nervous system : JPNS · 2026Article
- The neuropathy-causingbioRxiv : the preprint server for biology · 2026Article
- Charcot-Marie-Tooth disease and related neuropathies.Nature reviews. Disease primers · 2026Review
- Prevalence and incidence rates of 17 neuromuscular disorders: An updated review of the literature.Journal of neuromuscular diseases · 2025Review
- Inherited Peripheral Neuropathies.Neurologic clinics · 2025Review
- p.M918W, a novel RET germline variant: a case report and literature review of the possible association of multiple endocrine neoplasia type 2B and Charcot-Marie-Tooth disease.Endocrine journal · 2025Review
- Equity in neuromuscular research: a 20-year analysis of race, ethnicity, sex, and age representation.Journal of neurology · 2025Article
- Transfer RNA and small molecule therapeutics for aminoacyl-tRNA synthetase diseases.The FEBS journal · 2025Review
- Talar Morphology of Charcot-Marie-Tooth Patients With Cavovarus Feet.Foot & ankle international · 2025Article
- Transfer RNA supplementation rescues HARS deficiency in a humanized yeast model of Charcot-Marie-Tooth disease.Nucleic acids research · 2024Article
- Patient-reported disease burden in the Accelerate Clinical Trials in Charcot-Marie-Tooth Disease Study.Journal of the peripheral nervous system : JPNS · 2024Article
- Pediatric Chronic Inflammatory Demyelinating Polyneuropathy: Challenges in Diagnosis and Therapeutic Strategies.Paediatric drugs · 2024Review
- Hip Dysplasia in Patients with Charcot-Marie-Tooth Disease: Unraveling an Underrecognized Condition.Journal of the Pediatric Orthopaedic Society of North America · 2024Article
- Histidine supplementation can escalate or rescue HARS deficiency in a Charcot-Marie-Tooth disease model.Human molecular genetics · 2023Article
- Towards a Cure for HARS Disease.Genes · 2023Review
- Respiratory involvement and sleep-related disorders in CMT1A: case report and review of the literature.Frontiers in neurology · 2023Review
- Aberrant Mitochondrial Dynamics and Exacerbated Response to Neuroinflammation in a Novel Mouse Model of CMT2A.International journal of molecular sciences · 2021Article
- The prevalence of hereditary neuromuscular disorders in Northern Norway.Brain and behavior · 2021Article
- Fibulin 5, a human Wharton's jelly-derived mesenchymal stem cells-secreted paracrine factor, attenuates peripheral nervous system myelination defects through the Integrin-RAC1 signaling axis.Stem cells (Dayton, Ohio) · 2020Article
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectivesThis population-based study aimed to determine age-standardised prevalence of Charcot-Marie-Tooth disease (CMT) across the lifespan using multiple case ascertainment sources.
designPoint-prevalence epidemiological study in the Auckland Region of New Zealand (NZ).
settingMultiple case ascertainment sources including primary care centres, hospital services, neuromuscular disease registry, community-based organisations and self-referral were used to identify potentially eligible participants.
participantsAdults (≥16 years, n=207, 87.7%) and children (<16 years, n=29, 12.3%) with a confirmed clinical or molecular diagnosis of CMT, hereditary sensory neuropathy, hereditary motor neuropathy or hereditary neuropathy with liability to pressure palsies who resided in the Auckland Region of NZ on 1 June 2016. PRIMARY OUTCOME: Prevalence per 100 000 persons with 95% CIs by subtype, age and sex were calculated and standardised to the world population.
resultsAge-standardised point prevalence of all CMT cases was 15.7 per 100 000 (95% CI 11.6 to 21.0). Highest prevalence was identified in those aged 50-64 years 25.2 per 100 000 (95% CI 19.4 to 32.6). Males had a higher prevalence (16.6 per 100 000, 95% CI 10.9 to 25.2) than females (14.6 per 100 000, 95% CI 9.6 to 22.4). Prevalence of CMT1A was 6.9 per 100 000 (95% CI 5.6 to 8.4). The majority (93.2%) of cases were identified through medical records, with 6.8% of cases uniquely identified through community sources.
conclusionsA small but significant proportion of people with CMT are not connected to healthcare services. Epidemiological studies using medical records alone to identify cases may risk underestimating prevalence. Further studies using population-based methods and reporting age-standardised prevalence are needed to improve global understanding of the epidemiology of CMT.
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