Muscle MRI Contributes to the Differential Diagnosis Between Distal Myopathies and Distal Hereditary Motor Neuropathies

Analysis of MRI features can help distinguish between DMs and dHMNs. A reticular pattern is an early feature of dHMNs while muscle islands are identified in advanced stages and in some forms of DMs, though not specific to neurogenic conditions. We recommend including foot muscles in the MRI protocol as they show extensive involvement in most dHMNs, while in DMs their involvement correlates with greater fatty infiltration of lower leg muscles.

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Publication Details

Journal
European Journal of Neurology
Published
2026-01-01
DOI
https://doi.org/10.1111/ene.70456
Citations
1
Primary Topic
Hereditary Neurological Disorders
Type
article
Field-Weighted Citation Impact
23.21

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article

Muscle MRI Contributes to the Differential Diagnosis Between Distal Myopathies and Distal Hereditary Motor Neuropathies

María José Tarrega, Sofía Portela, Teresa Sevilla, Inmaculada Palazón Azorín et al.
1 citations
European Journal of Neurology
Hereditary Neurological Disorders
23.21
article

Muscle MRI Contributes to the Differential Diagnosis Between Distal Myopathies and Distal Hereditary Motor Neuropathies

María José Tarrega, Sofía Portela, Teresa Sevilla, Inmaculada Palazón Azorín, Herminia Argente‐Escrig, Nuria Muelas, Juan F. Vázquez‐Costa, María Payá, Karolina Aragon‐Gawinska, Juan José Gallego Vílchez, Roger Vílchez, Rafael Sivera, Pilar Martí, Fernando Más‐Estellés, Marina Frasquet
article en
1 citations

Abstract

Analysis of MRI features can help distinguish between DMs and dHMNs. A reticular pattern is an early feature of dHMNs while muscle islands are identified in advanced stages and in some forms of DMs, though not specific to neurogenic conditions. We recommend including foot muscles in the MRI protocol as they show extensive involvement in most dHMNs, while in DMs their involvement correlates with greater fatty infiltration of lower leg muscles.

European Journal of NeurologyVol. 33(1)
Universitat de València (ES), Universidad Cardenal Herrera CEU (ES), Hospital Universitari i Politècnic La Fe (ES), Centre for Biomedical Network Research on Rare Diseases (ES), Centro de Investigación Biomédica en Red (ES), ERN GUARD-Heart (NL), Instituto de Investigación Sanitaria La Fe (ES)
Rare Diseases Clinical Research Network, European Commission, Instituto de Salud Carlos III
Openalex Percentile: Top 3%
Hereditary Neurological Disorders
23.21
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Muscle MRI Contributes to the Differential Diagnosis Between Distal Myopathies and Distal Hereditary Motor Neuropathies — María José Tarrega, Sofía Portela, et al. · European Journal of Neurology (2026) | TGRS Research Map | TGRS