Elektrophysiologische Diagnostik bei Verdacht auf Amyotrophe Lateralsklerose – Konsensus-Empfehlungen des deutschen Motoneuron-Netzwerkes

Zusammenfassung

Bei klinischem Verdacht auf eine Amyotrophe Lateralsklerose (ALS) spielen elektrophysiologische Untersuchungen eine zentrale Rolle. Regelhaft kommen Elektromyographie und Elektroneurographie, häufig auch motorisch evozierte Potentiale zum Einsatz, um die Diagnose der ALS zu untermauern und sie gleichzeitig gegenüber möglichen Differentialdiagnosen abzugrenzen. Im Rahmen einer Umfrage innerhalb des deutschen Motoneuron-Netzwerkes wurden deutliche Unterschiede der elektrophysiologischen Untersuchungsabläufe zwischen den einzelnen Zentren sichtbar, aber auch ein großes Interesse an einer Harmonisierung der Untersuchungsmethoden. Hier knüpfen die nachfolgenden Empfehlungen an, die mit allen Zentren des MND-Net konsentiert wurden. Ziel ist die klinische Implementierung und nachfolgende multizentrische Validierung der Konsensus-Empfehlungen. Dabei werden hier allgemeine Handlungsempfehlungen für die elektrophysiologische Basis-Routine-Diagnostik bei Verdacht auf ALS gemacht, die mit einem Minimalprogramm an Untersuchungen eine ausreichend hohe Sensitivität und Spezifität ermöglichen sollen.

Abstract

Electrophysiologic investigations play a central role in the diagnosis of suspected amyotrophic lateral sclerosis (ALS). Electromyography and electroneurography, frequently complemented by motor evoked potentials, are commonly used to substantiate the diagnosis of ALS and to work-up differential diagnosis. A survey of the German Network for Motor Neuron Diseases revealed considerable differences in electrodiagnostic strategies between individual centres. In view of the great interest in harmonizing their diagnostic methods, the present recommendations were agreed upon by all centers of the MND-Net, aiming at their clinical implementation and subsequent multicentric validation. We present here recommendations for a basic routine diagnostic work-up in case of suspected ALS with high sensitivity, specificity and a minimal number of examinations.

Schlüsselwörter

ALS - split-hand index - Neurographie - Elektromyographie - motorisch evozierte Potenziale

Key words

ALS - nerve conduction studies - electromyography - motor evoked potentials - split-hand index

Publication History

Article published online:
24 April 2024

• Literatur

• 1 Ludolph A, Petri S, Grosskreutz J. et al. Motoneuronerkrankungen, S1-Leitlinie. 2021
• 2 Brooks BR, Miller RG, Swash M. et al. El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis. Amyotroph Lateral Scler Mot Neuron Disord Off Publ World Fed Neurol Res Group Mot Neuron Dis 2000; 1: 293-299 DOI: 10.1080/146608200300079536.
• 3 Ludolph A, Drory V, Hardiman O. et al. A revision of the El Escorial criteria - 2015. Amyotroph Lateral Scler Front Degener 2015; 16: 291-292 DOI: 10.3109/21678421.2015.1049183.
• 4 Jenkins TM, Alix JJP, Kandler RH. et al. The role of cranial and thoracic electromyography within diagnostic criteria for amyotrophic lateral sclerosis. Muscle Nerve 2016; 54: 378-385 DOI: 10.1002/mus.25062.
• 5 de Carvalho M, Dengler R, Eisen A. et al. Electrodiagnostic criteria for diagnosis of ALS. Clin Neurophysiol Off J Int Fed Clin Neurophysiol 2008; 119: 497-503 DOI: 10.1016/j.clinph.2007.09.143.
• 6 Duleep A, Shefner J. Electrodiagnosis of motor neuron disease. Phys Med Rehabil Clin N Am 2013; 24: 139-151 DOI: 10.1016/j.pmr.2012.08.022.
• 7 Costa J, Swash M, de Carvalho M. Awaji criteria for the diagnosis of amyotrophic lateral sclerosis:a systematic review. Arch Neurol 2012; 69: 1410-1416 DOI: 10.1001/archneurol.2012.254.
• 8 Dengler R, Konstanzer A, Hesse S. et al. Collateral nerve sprouting and twitch forces of single motor units in conditions with partial denervation in man. Neurosci Lett 1989; 97: 118-122 DOI: 10.1016/0304-3940(89)90149-3.
• 9 Dengler R, Konstanzer A, Küther G. et al. Amyotrophic lateral sclerosis: macro-EMG and twitch forces of single motor units. Muscle Nerve 1990; 13: 545-550 DOI: 10.1002/mus.880130612.
• 10 Bischoff C, Stålberg E, Falck B. et al. Reference values of motor unit action potentials obtained with multi-MUAP analysis. Muscle Nerve 1994; 17: 842-851 DOI: 10.1002/mus.880170803.
• 11 Schulte-Mattler WJ, Christian B. Quantitatives EMG – müssen zwanzig Einheiten gemessen werden oder genügen drei?. Klin Neurophysiol 2023; 54: 72-75 DOI: 10.1055/a-2057-0161.
• 12 Stålberg EV, Sonoo M. Assessment of variability in the shape of the motor unit action potential, the „jiggle,“ at consecutive discharges. Muscle Nerve 1994; 17: 1135-1144 DOI: 10.1002/mus.880171003.
• 13 Kollewe K, Körner S, Paracka L. et al. Elektrodiagnostische Kriterien der amyotrophen Lateralsklerose. Klin Neurophysiol 2013; 44: 123-131 DOI: 10.1055/s-0033-1343165.
• 14 Babu S, Pioro EP, Li J. et al. Optimizing muscle selection for electromyography in amyotrophic lateral sclerosis. Muscle Nerve 2017; 56: 36-44 DOI: 10.1002/mus.25444.
• 15 Müschen LH, Petri S, Körner S. Moderne Diagnosestellung der Amyotrophen Lateralsklerose – ein Update der Diagnosekriterien. Klin Neurophysiol 2022; 53: 48-58 DOI: 10.1055/a-1676-2748.
• 16 Turner MR. Diagnosing ALS: the Gold Coast criteria and the role of EMG. Pract Neurol 2022; 22: 176-178 DOI: 10.1136/practneurol-2021-003256.
• 17 Schulte-Mattler WJ, Grimm T, Stein F. et al. MUNIX – ein viel versprechender Biomarker bei der ALS. Klin Neurophysiol 2015; 46: 186-189 DOI: 10.1055/s-0041-107641.
• 18 Bashford J, Mills K, Shaw C. The evolving role of surface electromyography in amyotrophic lateral sclerosis: A systematic review. Clin Neurophysiol Off J Int Fed Clin Neurophysiol 2020; 131: 942-950 DOI: 10.1016/j.clinph.2019.12.007.
• 19 Neuwirth C, Braun N, Claeys KG. et al. Implementing Motor Unit Number Index (MUNIX) in a large clinical trial: Real world experience from 27 centres. Clin Neurophysiol Off J Int Fed Clin Neurophysiol 2018; 129: 1756-1762 DOI: 10.1016/j.clinph.2018.04.614.
• 20 Grimm A, Prell T, Décard BF. et al. Muscle ultrasonography as an additional diagnostic tool for the diagnosis of amyotrophic lateral sclerosis. Clin Neurophysiol Off J Int Fed Clin Neurophysiol 2015; 126: 820-827 DOI: 10.1016/j.clinph.2014.06.052.
• 21 Van den Bergh PYK, van Doorn PA, Hadden RDM. et al. European Academy of Neurology/Peripheral Nerve Society guideline on diagnosis and treatment of chronic inflammatory demyelinating polyradiculoneuropathy: Report of a joint Task Force-Second revision. Eur J Neurol 2021; 28: 3556-3583 DOI: 10.1111/ene.14959.
• 22 Bansagi B, Griffin H, Whittaker RG. et al. Genetic heterogeneity of motor neuropathies. Neurology 2017; 88: 1226-1234 DOI: 10.1212/WNL.0000000000003772.
• 23 Cornblath DR, Kuncl RW, Mellits ED. et al. Nerve conduction studies in amyotrophic lateral sclerosis. Muscle Nerve 1992; 15: 1111-1115 DOI: 10.1002/mus.880151009.
• 24 Feinberg DM, Preston DC, Shefner JM. et al. Amplitude-dependent slowing of conduction in amyotrophic lateral sclerosis and polyneuropathy. Muscle Nerve 1999; 22: 937-940 DOI: 10.1002/(sici)1097-4598(199907)22:7<937::aid-mus19>3.0.co;2-6.
• 25 Stöhr M, Pfister R, Reilich P. Klinische Elektromyographie und Neurographie: Lehrbuch und Atlas. 7., erweiterte und überarbeitete Auflage. Stuttgart: Verlag W. Kohlhammer; 2023
• 26 Fisher MA. AAEM Minimonograph #13: H reflexes and F waves: physiology and clinical indications. Muscle Nerve 1992; 15: 1223-1233 DOI: 10.1002/mus.880151102.
• 27 Argyriou AA, Polychronopoulos P, Talelli P. et al. F wave study in amyotrophic lateral sclerosis: assessment of balance between upper and lower motor neuron involvement. Clin Neurophysiol Off J Int Fed Clin Neurophysiol 2006; 117: 1260-1265 DOI: 10.1016/j.clinph.2006.03.002.
• 28 Oguz Akarsu E, Sirin NG, Kocasoy Orhan E. et al. Repeater F-waves in amyotrophic lateral sclerosis: Electrophysiologic indicators of upper or lower motor neuron involvement?. Clin Neurophysiol Off J Int Fed Clin Neurophysiol 2020; 131: 96-105 DOI: 10.1016/j.clinph.2019.09.030.
• 29 Killian JM, Wilfong AA, Burnett L. et al. Decremental motor responses to repetitive nerve stimulation in ALS. Muscle Nerve 1994; 17: 747-754 DOI: 10.1002/mus.880170708.
• 30 Wang FC, De Pasqua V, Gérard P. et al. Prognostic value of decremental responses to repetitive nerve stimulation in ALS patients. Neurology 2001; 57: 897-899 DOI: 10.1212/wnl.57.5.897.
• 31 Shang L, Chu H, Lu Z. Can the Large-Scale Decrement in Repetitive Nerve Stimulation Be Used as an Exclusion Criterion for Amyotrophic Lateral Sclerosis. Front Neurol 2020; 11: 101 DOI: 10.3389/fneur.2020.00101.
• 32 Brooks BR. El Escorial World Federation of Neurology criteria for the diagnosis of amyotrophic lateral sclerosis. Subcommittee on Motor Neuron Diseases/Amyotrophic Lateral Sclerosis of the World Federation of Neurology Research Group on Neuromuscular Diseases and the El Escorial „Clinical limits of amyotrophic lateral sclerosis“ workshop contributors. J Neurol Sci 1994; 124: 96-107 DOI: 10.1016/0022-510x(94)90191-0.
• 33 Corcia P, Bede P, Pradat P-F. et al. Split-hand and split-limb phenomena in amyotrophic lateral sclerosis: pathophysiology, electrophysiology and clinical manifestations. J Neurol Neurosurg Psychiatry 2021; 92: 1126-1130 DOI: 10.1136/jnnp-2021-326266.
• 34 Menon P, Kiernan MC, Yiannikas C. et al. Split-hand index for the diagnosis of amyotrophic lateral sclerosis. Clin Neurophysiol Off J Int Fed Clin Neurophysiol 2013; 124: 410-416 DOI: 10.1016/j.clinph.2012.07.025.
• 35 Hannaford A, Higashihara M, Pavey N. et al. Split-hand index: A diagnostic and prognostic marker in amyotrophic lateral sclerosis across varying regions of onset. Clin Neurophysiol Off J Int Fed Clin Neurophysiol 2021; 132: 2130-2135 DOI: 10.1016/j.clinph.2021.06.008.
• 36 Hannaford A, Byth K, Pavey N. et al. Clinical and neurophysiological biomarkers of disease progression in amyotrophic lateral sclerosis. Muscle Nerve 2023; 67: 17-24 DOI: 10.1002/mus.27736.
• 37 Kreß L, Appeltshauser L, Üceyler N. et al. Das „Split hand“ Phänomen bei Multifokaler Motorischer Neuropathie. Berlin. 2022
• 38 Günther R, Neuwirth C, Koch JC. et al. Motor Unit Number Index (MUNIX) of hand muscles is a disease biomarker for adult spinal muscular atrophy. Clin Neurophysiol Off J Int Fed Clin Neurophysiol 2019; 130: 315-319 DOI: 10.1016/j.clinph.2018.11.009.
• 39 Kalita J, Kumar S, Misra UK. et al. Split hand index and ulnar to median ratio in Hirayama disease and amyotrophic lateral sclerosis. Amyotroph Lateral Scler Front Degener 2017; 18: 598-603 DOI: 10.1080/21678421.2017.1336561.
• 40 Schreiber S, Vielhaber S, Schreiber F. et al. Peripheral nerve imaging in amyotrophic lateral sclerosis. Clin Neurophysiol Off J Int Fed Clin Neurophysiol 2020; 131: 2315-2326 DOI: 10.1016/j.clinph.2020.03.026.
• 41 Grimm A, Décard BF, Athanasopoulou I. et al. Nerve ultrasound for differentiation between amyotrophic lateral sclerosis and multifocal motor neuropathy. J Neurol 2015; 262: 870-880 DOI: 10.1007/s00415-015-7648-0.
• 42 Loewenbrück KF, Werner R, Günther R. et al. One nerve suffices: A clinically guided nerve ultrasound protocol for the differentiation of multifocal motor neuropathy (MMN) and amyotrophic lateral sclerosis (ALS. J Neurol 2021; 268: 1495-1507 DOI: 10.1007/s00415-020-10323-6.
• 43 Štětkářová I, Ehler E. Diagnostics of Amyotrophic Lateral Sclerosis: Up to Date. Diagn Basel Switz 2021; 11: 231 DOI: 10.3390/diagnostics11020231.
• 44 Zoccolella S, Mastronardi A, Scarafino A. et al. Motor-evoked potentials in amyotrophic lateral sclerosis: potential implications in detecting subclinical UMN involvement in lower motor neuron phenotype. J Neurol 2020; 267: 3689-3695 DOI: 10.1007/s00415-020-10073-5.
• 45 Civardi C, Collini A, Mazzini L. et al. Single-pulse transcranial magnetic stimulation in amyotrophic lateral sclerosis. Muscle Nerve 2020; 61: 330-337 DOI: 10.1002/mus.26780.
• 46 Claus D. Central motor conduction: method and normal results. Muscle Nerve 1990; 13: 1125-1132 DOI: 10.1002/mus.880131207.
• 47 Schmid UD, Walker G, Hess CW. et al. Magnetic and electrical stimulation of cervical motor roots: technique, site and mechanisms of excitation. J Neurol Neurosurg Psychiatry 1990; 53: 770-777 DOI: 10.1136/jnnp.53.9.770.
• 48 Siebner HR. Hrsg. Das TMS-Buch: Handbuch der transkraniellen Magnetstimulation ; mit 40 Tabellen. Heidelberg: Springer Medizin; 2007
• 49 Magistris MR, Rösler KM, Truffert A. et al. A clinical study of motor evoked potentials using a triple stimulation technique. Brain J Neurol 1999; 122: 265-279 DOI: 10.1093/brain/122.2.265.
• 50 Menon P, Higashihara M, van den Bos M. et al. Cortical hyperexcitability evolves with disease progression in ALS. Ann Clin Transl Neurol 2020; 7: 733-741 DOI: 10.1002/acn3.51039.