Semi-Automatic MRI Muscle Volumetry to Diagnose and Monitor Hereditary and Acquired Polyneuropathies.

Madlaine Müller,Christiane Kuhl,Sven Nebelung,Burkhard Gess,Michael Gadermayr,Sandro Romanzetti,Friederike Bähr,Maike Dohrn,Jörg Schulz

doi:10.3390/brainsci11020202

Abstract

With emerging treatment approaches, it is crucial to correctly diagnose and monitor hereditary and acquired polyneuropathies. This study aimed to assess the validity and accuracy of magnet resonance imaging (MRI)-based muscle volumetry.Using semi-automatic segmentations of upper- and lower leg muscles based on whole-body MRI and axial T1-weighted turbo spin-echo sequences, we compared and correlated muscle volumes, and clinical and neurophysiological parameters in demyelinating Charcot-Marie-Tooth disease (CMT) (n = 13), chronic inflammatory demyelinating polyneuropathy (CIDP) (n = 27), and other neuropathy (n = 17) patients.The muscle volumes of lower legs correlated with foot dorsiflexion strength (p < 0.0001), CMT Neuropathy Score 2 (p < 0.0001), early gait disorders (p = 0.0486), and in CIDP patients with tibial nerve conduction velocities (p = 0.0092). Lower (p = 0.0218) and upper (p = 0.0342) leg muscles were significantly larger in CIDP compared to CMT patients. At one-year follow-up (n = 15), leg muscle volumes showed no significant decrease.MRI muscle volumetry is a promising method to differentiate and characterize neuropathies in clinical practice.

Highlights

IntroductionWith an overall prevalence of 1:2500 [1], Charcot-Marie-Tooth disease (CMT) is the most common hereditary neuropathy, constituting a group of rare diseases associated with about 100 different genes to date [2]
Polyneuropathies are manifold in etiology and manifestations
Thirty patients were diagnosed with autoimmune neuropathies, such as chronic inflammatory demyelinating polyneuropathy (CIDP), or CIDP-variants such as multifocal motor neuropathy (MMN) or multifocal acquired demyelinating sensory and motor neuropathy (MADSAM)

Summary

Introduction

With an overall prevalence of 1:2500 [1], Charcot-Marie-Tooth disease (CMT) is the most common hereditary neuropathy, constituting a group of rare diseases associated with about 100 different genes to date [2]. With a prevalence of 2–3:100.000 [3], CIDP is even less frequent than CMT As such, both entities belong to the group of rare diseases and remain challenging to diagnose [4]. The standard diagnostics comprise a detailed neurological examination and nerve conduction studies (NCS) [12]. The former is dependent on both the patient’s collaboration and the examiner’s experience, while the latter is associated with the unpleasant experience of electric stimulation. There is a clinical need for accurate, reproducible, and non-invasive diagnostic tools that may help to differentiate these disease entities and monitor their clinical course

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