| Study (year) | Population/setting | Sample size | Key metrics | Notes |
|---|---|---:|---|---|
| Zambon et al. (2023) | Review of hereditary motor neuropathies (HMN), including dHMN; pooled literature estimate | Not stated in snippet | Pooled prevalence: 2.14/100,000; diagnostic yield for pure HMN phenotype: ~32.5% | Broad HMN estimate, not restricted to autosomal dominant dHMN; ~30 causative genes noted (pqac-00000015, pqac-00000002) |
| Frasquet et al. (2021) | Two Spanish tertiary centers; clinic-based dHMN cohort | 163 patients, 108 families | Minimum prevalence: 2.3/100,000; genetic diagnosis: 34.2% of families (37/108), 47.8% of patients (78/163); most probands sporadic: 62.3%; gene frequencies among patients: HSPB1 10.4%, GARS1 9.8%, BICD2 8.0%, DNAJB2 6.7%, SORD 3.1% | Historical genetic characterization in prior series cited as 15%–32.5%; VUS in 34.2% (37/108), with 54.0% (20/37) reclassified likely benign after segregation (pqac-00000012, pqac-00000011, pqac-00000003) |
| Rossor (2021) | Editorial summarizing Spanish dHMN cohort, including Valencia defined catchment | Not stated in snippet | Population prevalence: 1 in 50,000; diagnostic yield: 67.4% in familial index cases vs 12.3% in sporadic cases; among genetically confirmed Valencia cases, 60% autosomal dominant and 40% recessive | Barcelona genetically confirmed cases described as ~50/50 AD/AR; SORD accounted for 3% of cases despite common carrier frequency (pqac-00000008, pqac-00000004) |
| Bansagi (2017) | North-East England referral/catchment population; inherited neuropathy clinic cohort | 64 dHMN patients from 40 families; 105 HMN patients from 73 families; 461 inherited neuropathy referrals | dHMN prevalence: 2.14/100,000 (95% CI 1.62–2.66); dHMN among included HMN cohort: 60.9% (64/105); dHMN among inherited neuropathy referrals: 13.8% (64/461); dominant dHMN families: 16/40; dHMN cumulative detection rate: 42.5%, confirmed pathogenic rate: 32.5%; testing yields: targeted testing 4.7% (5/105), IPN panel 26% (12/46), WES 45% (18/40) | Mean age at onset in dHMN ~16 years in snippet; inheritance data emphasize autosomal dominant families plus many isolated cases (pqac-00000009, pqac-00000010, pqac-00000013, pqac-00000014, pqac-00000000) |
| Xie et al. (2020) | Mainland China dHMN family cohort | 24 families | Inheritance distribution: 6 AD (25.0%), 5 AR (20.8%), 13 sporadic (51.2%); definite genetic diagnosis: 29.2% (7/24) | Diagnosed genes included GARS, WARS, SORD, SIGMAR1, HSPB1; authors note ARS genes may be frequent causes of AD-dHMN (pqac-00000001) |


*Table: This table compiles explicit epidemiology and diagnostic-yield statistics for distal hereditary motor neuropathy across key cohort and review sources, highlighting autosomal dominant proportions where reported. It is useful for comparing prevalence estimates, inheritance mix, and genetic testing performance across settings.*