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

ABSTRACT:

Background

Distinguishing between distal myopathies (DMs) and distal hereditary motor neuropathies (dHMNs) can be challenging because clinical, EMG and biopsy findings sometimes overlap. This study aims to identify distinctive muscle MRI features that can guide the diagnosis.

Methods

We collected clinical, genetic and muscle MRI data from patients with a confirmed diagnosis of DM and dHMN. We analyzed potential MRI characteristics to distinguish these conditions and to guide molecular diagnosis, such as the texture and pattern of infiltration.

Results

Seventy-eight (71.5%) patients diagnosed with DMs and thirty-one (28.4%) with dHMNs were included. A length-dependent pattern of muscle involvement, a distal to proximal gradient of fat replacement along the length of th

SUBMITTER: Paya M 

PROVIDER: S-EPMC12780858 | biostudies-literature | 2026 Jan

REPOSITORIES: biostudies-literature