Motor Nöron Hastalarının Klinik, Demografik ve Elektrofizyolojik Özellikleri: Tek Merkez Deneyimi

Abstract

Amaç: Motor nöron hastalığı (MNH) üst ve/veya alt motor nöronların dejenerasyonu ile seyreden progresif nörolojik bozukluklardır. Şanlıurfa ilinde üniversite hastanemize başvuran MNH hastalarının klinik, demografik ve elektrofizyolojik özelliklerinin incelenmesini amaçladık. Gereç ve Yöntem: 2018-2023 yılları arasında Nöroloji ve Nöromusküler polikliniklerinde ve Elektronörofizyoloji laboratuvarında MNH tanısı konarak takip edilen 190 hastanın dosyaları elektronik ortamda retrospektif olarak incelendi. Hastaların yaş, cinsiyet, başvuru şikâyeti, muayene bulgusu, aile öyküsü ve elektrofizyolojik özellikleri kayıt altına alındı. Bulgular: Amyotrofik lateral skleroz (ALS) hastalarının 22’ si kadın, 32’ si erkekti. 15 hastanın başlangıç semptomu bulber iken, 39’ unun spinal başlangıçlıydı. 17 hastanın ilk semptomu alt ekstremiteden, 22’ sinin üst ekstremiteden başlamıştı. 36 hastanın ulnar sinir distal motor latansları (DML) median sinir DML’den kısayken, bu hastaların 24’ünde ulnar sinir birleşik kas aksiyon potansiyeli (BKAP) median sinir BKAP’larından yüksek bulundu. 3 Herediter Spastik Paraparezi hastamızın 1’i komplike tipteydi. Poliomiyelit sekeli nedeniyle Elektromiyografi (EMG)’si yapılan hastaların tibialis anterior kası 55 hastada bilateral, 7 hastada tek taraflı etkilenmişti. 2 hastada ileti hızında yavaşlama saptanırken farklı 2 hastada median sinirde tuzak nöropati izlendi. 6 post polio sendromu hastamızın yaş ortalaması 54.25+8.057’ idi. Hirayama Sendromu tanılı hastalarımızın 1’i kadın, 3’ü erkekti. 3 Hastamiz 20-30 yaş arasındayken, 1 hastamiz 58 yaşındaydı. 1 hastamızın servikal görüntülemesinde C6-7 düzeyinde miyelomalazi saptandı. 2 hastanın semptomu olmadığı halde iki yanlı tutulumu varken diğer 2 hastada tek taraflı tutulum vardı. Sonuç: Hekimlerin MNH’nın belirti, bulgu ve risk faktörlerini bilmeleri erken tanı koyabilmeleri açısından önemlidir.

Keywords

• nöromüsküler hastalıklar
• elektromiyografi
• motor nöron

Clinical, Demographic and Electrophysiological Characteristics of Motor Neuron Patients: A Single Centre Experience

Abstract

Objective: Motor Neuron Diseases (MNDs) are progressive neurological disorders characterized by the degeneration of upper and/or lower motor neurons. We aimed to investigate the clinical, demographic, and electrophysiological characteristics of MND patients who presented to our university hospital in XXX province. Materials and Methods: 190 patients diagnosed and followed up with MND in the Neurology and Neuromuscular clinics and Electroneurophysiology laboratory were retrospectively analyzed from the medical records of patients between 2018 and 2023. Patient data, including age, gender, presenting complaints, examination findings, family history, and electrophysiological features, were recorded. Results: Among the amyotrophic lateral sclerosis (ALS) patients, 22 were female and 32 were male. Fifteen patients had bulbar-onset symptoms, while 39 had spinal-onset symptoms. The initial symptom in 17 patients originated from the lower extremities, and in 22 patients, it started in the upper extremities. In 36 patients, ulnar nerve distal motor latencies (DML) were shorter than median nerve DML, and 24 of these patients had higher ulnar nerve compound muscle action potentials (CMAP) than median nerve CMAP. One of the 3 patients with Hereditary Spastic Paraparesis had a complicated type. Electromyography (EMG) of the tibialis anterior muscle in patients with sequelae of poliomyelitis revealed bilateral involvement in 55 patients and unilateral involvement in 7 patients. Slowing of conduction velocity was detected in 2 patients, and trap neuropathy in the median nerve was observed in 2 other patients. The average age of 6 post-polio syndrome patients was 54.25±8.057. Among the patients diagnosed with Hirayama Syndrome, 1 was female, and 3 were male. Three patients were between 20-30 years old, while one of them was 58 years old. Myelomalacia at the C6-7 level was detected in the cervical imaging of one patient, and two patients had bilateral involvement without symptoms, while the other 2 had unilateral involvement. Conclusion: Recognizing the symptoms, signs, and risk factors of MND is crucial for physicians to facilitate early diagnosis.

Keywords

• neuromuscular
• electromyography
• motor neuron

References

1. 1. Quinn C, Elman L. Amyotrophic Lateral Sclerosis and Other Motor Neuron Diseases. Continuum (Minneap Minn). 2020 Oct;26(5):1323-1347. doi: 10.1212/CON.0000000000000911.
2. 2. Tütüncü M. Motor nöron hastalıklarında epidemiyoloji. Uzun Adatepe N, editör. Motor Nöron Hastalıkları. 1. Baskı. Ankara: Türkiye Klinikleri; 2023. p.9-14.
3. 3. Uysal H, Taghiyeva P, Türkay M, Köse F, Aktekin M. Amyot-rophic lateral sclerosis in Antalya, Turkey. A prospective study, 2016-2018. Amyotroph Lateral Scler Frontotemporal Degener. 2020 Sep 12:1-7. doi: 10.1080/21678421.2020.1817089.
4. 4. Turgut N, Varol Saracoglu G, Kat S, Balci K, Güldiken B, Birgili O, ve ark. An epidemiologic investigation of amyotrophic la-teral sclerosis in Thrace, Turkey, 2006-2010. Amyotroph Late-ral Scler Frontotemporal Degener. 2019 Feb;20(1-2):100-106. doi: 10.1080/21678421.2018.1525403.
5. 5. Miller RG, Munsat TL, Swash M, et al. Consensus guidelines for the design and implementation of clinical trials in ALS. J Neurol Sci 1999; 169 (1,2): 2–12.
6. 6. Arslan B, Uluç K. Üst motor nöron hastalıkları. Uzun Adatepe N, editör. Motor Nöron Hastalıkları. 1. Baskı. Ankara: Türkiye Klinikleri; 2023. p.22-8.
7. 7. Bekircan-Kurt CE, Erdem-Özdamar S. Motor nöron hastalıkla-rında genetik incelemeler. Uzun-Adatepe N, editör. Motor nö-ron Hastalıkları. 1. Baskı. Ankara: Türkiye Klinikleri; 2023. p.58-65.
8. 8. Tezen D, Karaali Savrun F. Alt motor nöron hastalıkları. Uzun Adatepe N, editör. Motor Nöron Hastalıkları. 1. Baskı. Ankara: Türkiye Klinikleri; 2023. p.29-38.

9. 9. Farbu, E., Gilhus, N. E., Barnes, M. P., Borg, K., de Visser, M., Driessen, A., Howard, R., Nollet, F., Opara, J., & Stalberg, E. (2006). EFNS guideline on diagnosis and management of post-polio syndrome. Report of an EFNS task force. European journal of neurology, 13(8), 795–801. https://doi.org/10.1111/j.1468-1331.2006.01385.x
10. 10. Palese F, Sartori A, Verriello L, Ros S, Passadore P, Manga-notti P, et al. Epidemiology of amyotrophic lateral sclerosis in Friuli-Venezia Giulia, North-Eastern Italy, 2002-2014: a ret-rospective population-based study. Amyotroph Lateral Scler Frontotemporal Degener. 2019 Feb;20(1-2):90-99. doi: 10.1080/21678421.2018.1511732.
11. 11. Benjaminsen E, Alstadhaug KB, Gulsvik M, Baloch FK, Odeh F. Amyotrophic lateral sclerosis in Nordland county, Norway, 2000-2015: prevalence, incidence, and clinical features. Am-yotroph Lateral Scler Frontotemporal Degener. 2018 Nov;19(7-8):522-527. doi: 10.1080/21678421.2018.1513534.
12. 12. Luna J, Diagana M, Ait Aissa L, Tazir M, Ali Pacha L, Kacem I, et al.; TROPALS Collaboration. Clinical features and prognosis of amyotrophic lateral sclerosis in Africa: the TROPALS study. J Neurol Neurosurg Psychiatry. 2019 Jan;90(1):20-29. doi: 10.1136/jnnp-2018-318469.
13. 13. Aktekin M & Uysal H. (2020). Epidemiology of amyotrophic lateral sclerosis. Turkish Journal Of Neurology, 26(3).
14. 14. De Marchi F, Sarnelli MF, Solara V, Bersano E, Cantello R, Mazzini L. Depression and risk of cognitive dysfunctions in amyotrophic lateral sclerosis. Acta Neurol Scand. 2019 May;139(5):438-445. doi: 10.1111/ane.13073.
15. 15. Shimizu T, Nakayama Y, Matsuda C, Haraguchi M, Bokuda K, Ishikawa-Takata K, et al. Prognostic significance of body we-ight variation after diagnosis in ALS: a single-centre prospec-tive cohort study. J Neurol. 2019 Jun;266(6):1412-1420. doi: 10.1007/s00415-019-09276-2.
16. 16. Zhou S, Zhou Y, Qian S, Chang W, Wang L, Fan D. Amyotrop-hic lateral sclerosis in Beijing: Epidemiologic features and prognosis from 2010 to 2015. Brain Behav. 2018 Nov;8(11):e01131. doi: 10.1002/brb3.1131.
17. 17. Douglass CP, Kandler RH, Shaw PJ, McDermott CJ. An evalua-tion of neurophysiological criteria used in the diagnosis of motor neuron disease. J Neurol Neurosurg Psychiatry. 2010 Jun;81(6):646-9. doi: 10.1136/jnnp.2009.197434.
18. 18. Corcia P, Bede P, Pradat PF, Couratier P, Vucic S, de Carvalho M. Split-hand and split-limb phenomena in amyotrophic late-ral sclerosis: pathophysiology, electrophysiology and clinical manifestations. J Neurol Neurosurg Psychiatry. 2021 Oct;92(10):1126-1130. doi: 10.1136/jnnp-2021-326266.
19. 19. Park D, Park JS. Terminal latency abnormality in amyotrophic lateral sclerosis without split hand syndrome. Neurol Sci. 2017 May;38(5):775-781. doi: 10.1007/s10072-017-2842-8.
20. 20. Fang J, Cui L, Liu M, Guan Y, Li X, Li D, et al. Differences in Dysfunction of Thenar and Hypothenar Motoneurons in Am-yotrophic Lateral Sclerosis. Front Hum Neurosci. 2016 Mar 7;10:99. doi: 10.3389/fnhum.2016.00099.
21. 21. Harding AE. Hereditary "pure" spastic paraplegia: a clinical and genetic study of 22 families. J Neurol Neurosurg Psychi-atry. 1981 Oct;44(10):871-83. doi: 10.1136/jnnp.44.10.871.
22. 22. McDermott C, White K, Bushby K, Shaw P. Hereditary spastic paraparesis: a review of new developments. J Neurol Neuro-surg Psychiatry. 2000 Aug;69(2):150-60. doi: 10.1136/jnnp.69.2.150.
23. 23. Lefebvre S, Burlet P, Liu Q, Bertrandy S, Clermont O, Munnich A, et al. Correlation between severity and SMN protein level in spinal muscular atrophy. Nat Genet. 1997 Jul;16(3):265-9. doi: 10.1038/ng0797-265.
24. 24. Yücel Z. & Yüksel E.B. (2023). Spinal musküler atrofi: tanı, tarama ve tedavide güncel gelişmeler. Genel Sağlık Bilimleri Dergisi, 5(2), 275-287.
25. 25. Türkiye İstatistik Kurumu. İstatistiklerle Aile, 2022. https://data.tuik.gov.tr/Bulten/Index?p=Istatistiklerle-Aile-2022-49683.
26. 26. Canbaz S, Pekşen Y. Türkiye’de Poliomyelit Eradikasyon Ça-lışmaları. Journal of Experimental and Clinical Medicine, 2009, 17.4.
27. 27. Bodıan D. Histopathologic basis of clinical findings in poliom-yelitis. Am J Med. 1949 May;6(5):563-78. doi: 10.1016/0002-9343(49)90130-8.
28. 28. McComas AJ, Quartly C, Griggs RC. Early and late losses of motor units after poliomyelitis. Brain. 1997 Aug;120 ( Pt 8):1415-21. doi: 10.1093/brain/120.8.1415.
29. 29. Sağır Z. 3 yaşında bir çocukta atipik bilateral tutulumlu parali-tik spinal poliomyelit tip 1 (vaka sunumu). 1996.
30. 30. Tsai HC, Hung TH, Chen CC, Lieu FK, Cho H, Tung TH, et al. Prevalence and risk factors for upper extremity entrapment neuropathies in polio survivors. J Rehabil Med. 2009 Jan;41(1):26-31. doi: 10.2340/16501977-0290.
31. 31. Gökçebay N, İnce B, Erdemir M, Baslo P. Polio sekelinde kllnik ve elektromyografik değerlendirme. Acta Orthopaedica et Traumatologica Turcica; Vol 20, No 4 (1986); 287-290, 2004.
32. 32. Marshall VE, Storey JS, Clayton BA, Zander EH. Postpoliomye-litis Syndrome and Reversal With Sugammadex: A Case Re-port. AANA J. 2020 Oct;88(5):380-382.
33. 33. Trojan DA, Cashman NR. Post-poliomyelitis syndrome. Musc-le Nerve. 2005 Jan;31(1):6-19. doi: 10.1002/mus.20259.
34. 34. Eser F, Akbulut L, Bodur H. Postpolio Sendromu.Turkiye Klinik-leri J Med Sci.2008;28:227-30.
35. 35. Fetoni V, Briem E, Carrara F, Mora M, Zeviani M. Monomelic amyotrophy associated with the 7472insC mutation in the mtDNA tRNASer(UCN) gene. Neuromuscul Disord. 2004 Nov;14(11):723-6. doi: 10.1016/j.nmd.2004.07.002.
36. 36. Rowin J, Meriggioli MN, Cochran EJ. Monomelic amyotrophy with late progression. Neuromuscul Disord. 2001 Apr;11(3):305-8. doi: 10.1016/s0960-8966(00)00202-9.
37. 37. Kiernan MC, Lethlean AK, Blum PW. Monomelic amyotrophy: non progressive atrophy of the upper limb. J Clin Neurosci. 1999 Jul;6(4):353-355. doi: 10.1054/jocn.1997.0070.
38. 38. Tunçbay T. Tunçbay E. Nöromusküler hastalıklar. İzmir: Ege Üniversitesi Basım Evi, 2000, 136-140.
39. 39. Rowin J, Meriggioli MN, Cochran EJ. Monomelic amyotrophy with late progression. Neuromuscul Disord. 2001 Apr;11(3):305-8. doi: 10.1016/s0960-8966(00)00202-9.
40. 40. Gourie-Devi M, Nalini A. Long-term follow-up of 44 patients with brachial monomelic amyotrophy. Acta Neurol Scand. 2003 Mar;107(3):215-20. doi: 10.1034/j.1600-0404.2003.02142.x.
41. 41. Hamano T, Mutoh T, Hirayama M, Ito K, Kimura M, Aita T, et al. MRI findings of benign monomelic amyotrophy of lower limb. J Neurol Sci. 1999 Jun 1;165(2):184-7. doi: 10.1016/s0022-510x(99)00086-6.
42. 42. Pearlman S, Pourmand R. Evaluation of a patient presenting with progressive weakness and atrophy of the upper extremi-ties. J Clin Neuromuscul Dis. 2003 Sep;5(1):51-9. doi: 10.1097/00131402-200309000-00007.
43. 43. Kennedy WR, Alter M, Sung JH. Progressive proximal spinal and bulbar muscular atrophy of late onset. A sex-linked re-cessive trait. Neurology. 1968 Jul;18(7):671-80. doi: 10.1212/wnl.18.7.671.
44. 44. Dobyns WB, Filauro A, Tomson BN, Chan AS, Ho AW, Ting NT, et al. Inheritance of most X-linked traits is not dominant or recessive, just X-linked. Am J Med Genet A. 2004 Aug 30;129A(2):136-43. doi: 10.1002/ajmg.a.30123.
45. 45. Finsterer J, Soraru G. Onset Manifestations of Spinal and Bulbar Muscular Atrophy (Kennedy's Disease). J Mol Neuros-ci. 2016 Mar;58(3):321-9. doi: 10.1007/s12031-015-0663-x.