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Lower motor neuron disease

MedGen UID:
78729
•Concept ID:
C0270764
•
Disease or Syndrome
Synonyms: Lower Motor Neuron Disease; Motor Neuron Disease, Lower
SNOMED CT: Lower motor neuron disease (84590007)

Professional guidelines

PubMed

Spinal Muscular Atrophy: The Past, Present, and Future of Diagnosis and Treatment.
Nishio H, Niba ETE, Saito T, Okamoto K, Takeshima Y, Awano H
Int J Mol Sci 2023 Jul 26;24(15) doi: 10.3390/ijms241511939. PMID: 37569314Free PMC Article
The cognitive and behavioural profile of amyotrophic lateral sclerosis: application of the consensus criteria.
Consonni M, Iannaccone S, Cerami C, Frasson P, Lacerenza M, Lunetta C, Corbo M, Cappa SF
Behav Neurol 2013;27(2):143-53. doi: 10.3233/BEN-2012-110202. PMID: 23001631Free PMC Article
Emerging disease-modifying therapies for the treatment of motor neuron disease/amyotropic lateral sclerosis.
Bedlack RS, Traynor BJ, Cudkowicz ME
Expert Opin Emerg Drugs 2007 May;12(2):229-52. doi: 10.1517/14728214.12.2.229. PMID: 17604499

Recent clinical studies

Etiology

Adult-onset non-5q proximal spinal muscular atrophy: a comprehensive review.
Pinto WBVR, Souza PVS, Badia BML, Farias IB, Albuquerque Filho JMV, Gonçalves EA, Machado RIL, Oliveira ASB
Arq Neuropsiquiatr 2021 Oct;79(10):912-923. doi: 10.1590/0004-282X-ANP-2020-0429. PMID: 34706022
Neuromuscular Scoliosis: When, Who, Why and Outcomes.
Wishart BD, Kivlehan E
Phys Med Rehabil Clin N Am 2021 Aug;32(3):547-556. Epub 2021 May 12 doi: 10.1016/j.pmr.2021.02.007. PMID: 34175013
Genomic variants causing mitochondrial dysfunction are common in hereditary lower motor neuron disease.
Keller N, Paketci C, Altmueller J, Fuhrmann N, Wunderlich G, Schrank B, Unver O, Yilmaz S, Boostani R, Karimiani EG, Motameny S, Thiele H, Nürnberg P, Maroofian R, Yis U, Wirth B, Karakaya M
Hum Mutat 2021 Apr;42(4):460-472. Epub 2021 Mar 3 doi: 10.1002/humu.24181. PMID: 33600046
Adult-onset spinal muscular atrophy: An update.
Juntas Morales R, Pageot N, Taieb G, Camu W
Rev Neurol (Paris) 2017 May;173(5):308-319. Epub 2017 Apr 26 doi: 10.1016/j.neurol.2017.03.015. PMID: 28456383
The spectrum of lower motor neuron syndromes.
Van Den Berg-Vos RM, Van Den Berg LH, Visser J, de Visser M, Franssen H, Wokke JH
J Neurol 2003 Nov;250(11):1279-92. doi: 10.1007/s00415-003-0235-9. PMID: 14648143

Diagnosis

Spinal Muscular Atrophy: The Past, Present, and Future of Diagnosis and Treatment.
Nishio H, Niba ETE, Saito T, Okamoto K, Takeshima Y, Awano H
Int J Mol Sci 2023 Jul 26;24(15) doi: 10.3390/ijms241511939. PMID: 37569314Free PMC Article
Amyotrophic lateral sclerosis mimics.
Kwan J, Vullaganti M
Muscle Nerve 2022 Sep;66(3):240-252. Epub 2022 May 24 doi: 10.1002/mus.27567. PMID: 35607838
Multifocal motor neuropathy.
Van Asseldonk JT, Franssen H, Van den Berg-Vos RM, Wokke JH, Van den Berg LH
Lancet Neurol 2005 May;4(5):309-19. doi: 10.1016/S1474-4422(05)70074-0. PMID: 15847844
Multifocal motor neuropathy.
Biessels GJ, Franssen H, van den Berg LH, Gibson A, Kappelle LJ, Venables GS, Wokke JH
J Neurol 1997 Mar;244(3):143-52. doi: 10.1007/s004150050065. PMID: 9050954
Lower motor neuron disease.
Knapp ME
Postgrad Med 1969 Oct;46(4):203-7. doi: 10.1080/00325481.1969.11697280. PMID: 5353755

Therapy

Selecting disease-modifying medications in 5q spinal muscular atrophy.
Cartwright MS, Upadhya S
Muscle Nerve 2021 Oct;64(4):404-412. Epub 2021 Jul 7 doi: 10.1002/mus.27358. PMID: 34231920
"ALS reversals": demographics, disease characteristics, treatments, and co-morbidities.
Harrison D, Mehta P, van Es MA, Stommel E, Drory VE, Nefussy B, van den Berg LH, Crayle J, Bedlack R; Pooled Resource Open-Access ALS Clinical Trials Consortium
Amyotroph Lateral Scler Frontotemporal Degener 2018 Nov;19(7-8):495-499. Epub 2018 Apr 2 doi: 10.1080/21678421.2018.1457059. PMID: 29607695
Emerging disease-modifying therapies for the treatment of motor neuron disease/amyotropic lateral sclerosis.
Bedlack RS, Traynor BJ, Cudkowicz ME
Expert Opin Emerg Drugs 2007 May;12(2):229-52. doi: 10.1517/14728214.12.2.229. PMID: 17604499
Multifocal motor neuropathy.
Van Asseldonk JT, Franssen H, Van den Berg-Vos RM, Wokke JH, Van den Berg LH
Lancet Neurol 2005 May;4(5):309-19. doi: 10.1016/S1474-4422(05)70074-0. PMID: 15847844
The spectrum of lower motor neuron syndromes.
Van Den Berg-Vos RM, Van Den Berg LH, Visser J, de Visser M, Franssen H, Wokke JH
J Neurol 2003 Nov;250(11):1279-92. doi: 10.1007/s00415-003-0235-9. PMID: 14648143

Prognosis

Amyotrophic lateral sclerosis mimics.
Kwan J, Vullaganti M
Muscle Nerve 2022 Sep;66(3):240-252. Epub 2022 May 24 doi: 10.1002/mus.27567. PMID: 35607838
Predictors of amyotrophic lateral sclerosis mimic syndrome.
Quarracino C, Segamarchi MC, Rodríguez GE
Acta Neurol Belg 2019 Jun;119(2):253-256. Epub 2019 Apr 10 doi: 10.1007/s13760-019-01135-1. PMID: 30972662
Kennedy disease (X-linked recessive bulbospinal neuronopathy): A comprehensive review from pathophysiology to therapy.
Querin G, Sorarù G, Pradat PF
Rev Neurol (Paris) 2017 May;173(5):326-337. Epub 2017 May 1 doi: 10.1016/j.neurol.2017.03.019. PMID: 28473226
Emerging disease-modifying therapies for the treatment of motor neuron disease/amyotropic lateral sclerosis.
Bedlack RS, Traynor BJ, Cudkowicz ME
Expert Opin Emerg Drugs 2007 May;12(2):229-52. doi: 10.1517/14728214.12.2.229. PMID: 17604499
The spectrum of lower motor neuron syndromes.
Van Den Berg-Vos RM, Van Den Berg LH, Visser J, de Visser M, Franssen H, Wokke JH
J Neurol 2003 Nov;250(11):1279-92. doi: 10.1007/s00415-003-0235-9. PMID: 14648143

Clinical prediction guides

Motor neuron disease in a patient with overlap syndrome (rheumatoid arthritis; systemic lupus erythematosus, Sjogren's syndrome).
Atalar E, Yurdakul FG, Gök K, Güler T, Erten Ş, Yaşar E, Bodur H
Rheumatol Int 2023 Feb;43(2):367-372. Epub 2022 Sep 18 doi: 10.1007/s00296-022-05207-z. PMID: 36117188Free PMC Article
Segmental alterations of the corpus callosum in motor neuron disease: A DTI and texture analysis in 575 patients.
Münch M, Müller HP, Behler A, Ludolph AC, Kassubek J
Neuroimage Clin 2022;35:103061. Epub 2022 May 28 doi: 10.1016/j.nicl.2022.103061. PMID: 35653913Free PMC Article
Predictors of amyotrophic lateral sclerosis mimic syndrome.
Quarracino C, Segamarchi MC, Rodríguez GE
Acta Neurol Belg 2019 Jun;119(2):253-256. Epub 2019 Apr 10 doi: 10.1007/s13760-019-01135-1. PMID: 30972662
Lower motor neuron disease with respiratory failure caused by a novel MAPT mutation.
Di Fonzo A, Ronchi D, Gallia F, Cribiù FM, Trezzi I, Vetro A, Della Mina E, Limongelli I, Bellazzi R, Ricca I, Micieli G, Fassone E, Rizzuti M, Bordoni A, Fortunato F, Salani S, Mora G, Corti S, Ceroni M, Bosari S, Zuffardi O, Bresolin N, Nobile-Orazio E, Comi GP
Neurology 2014 Jun 3;82(22):1990-8. Epub 2014 May 7 doi: 10.1212/WNL.0000000000000476. PMID: 24808015
Cognitive dysfunction in lower motor neuron disease: executive and memory deficits in progressive muscular atrophy.
Raaphorst J, de Visser M, van Tol MJ, Linssen WH, van der Kooi AJ, de Haan RJ, van den Berg LH, Schmand B
J Neurol Neurosurg Psychiatry 2011 Feb;82(2):170-5. Epub 2010 Jun 18 doi: 10.1136/jnnp.2009.204446. PMID: 20562407

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