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Progressive muscular atrophy

MedGen UID:
214634
•Concept ID:
C0917981
•
Disease or Syndrome
Synonyms: Atrophies, Progressive Muscular; Atrophy, Progressive Muscular; Muscular Atrophies, Progressive; Muscular Atrophy, Progressive; Myelopathic Muscular Atrophy, Progressive; Progressive Muscular Atrophies; Progressive Muscular Atrophy; Progressive Myelopathic Muscular Atrophy
SNOMED CT: PMA - Progressive muscular atrophy (88923002); Progressive muscular atrophy (88923002); Duchenne-Aran muscular atrophy (88923002); Pure progressive muscular atrophy (88923002)

Definition

A rare, milder form of amyotrophic lateral sclerosis. It is characterized by a slowly progressive clinical course. Signs and symptoms include muscle weakness, atrophy, and fasciculation. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVProgressive muscular atrophy

Professional guidelines

PubMed

Clinical Utility of Repetitive Nerve Stimulation Test in Differentiating Multifocal Motor Neuropathy From Progressive Muscular Atrophy.
Watanabe S, Sekiguchi K, Noda Y, Matsumoto R
J Clin Neuromuscul Dis 2022 Jun 1;23(4):175-182. doi: 10.1097/CND.0000000000000401. PMID: 35608640Free PMC Article
Gold Coast diagnostic criteria increase sensitivity in amyotrophic lateral sclerosis.
Pugdahl K, Camdessanché JP, Cengiz B, de Carvalho M, Liguori R, Rossatto C, Oliveira Santos M, Vacchiano V, Johnsen B
Clin Neurophysiol 2021 Dec;132(12):3183-3189. Epub 2021 Sep 8 doi: 10.1016/j.clinph.2021.08.014. PMID: 34544646
The widening spectrum of C9ORF72-related disease; genotype/phenotype correlations and potential modifiers of clinical phenotype.
Cooper-Knock J, Shaw PJ, Kirby J
Acta Neuropathol 2014 Mar;127(3):333-45. Epub 2014 Feb 4 doi: 10.1007/s00401-014-1251-9. PMID: 24493408Free PMC Article

Recent clinical studies

Etiology

Genetic Associations With an Amyotrophic Lateral Sclerosis Reversal Phenotype.
Crayle JI, Rampersaud E, Myers JR, Wuu J, Taylor JP, Wu G, Benatar M, Bedlack RS
Neurology 2024 Aug 27;103(4):e209696. Epub 2024 Jul 30 doi: 10.1212/WNL.0000000000209696. PMID: 39079071Free PMC Article
Autophagy and Motor Neuron Diseases.
Zhang X, Yang K, Le W
Adv Exp Med Biol 2020;1207:53-74. doi: 10.1007/978-981-15-4272-5_3. PMID: 32671738
Atypical Motor Neuron Disease variants: Still a diagnostic challenge in Neurology.
Pinto WBVR, Debona R, Nunes PP, Assis ACD, Lopes CG, Bortholin T, Dias RB, Naylor FGM, Chieia MAT, Souza PVS, Oliveira ASB
Rev Neurol (Paris) 2019 Apr;175(4):221-232. Epub 2019 Mar 4 doi: 10.1016/j.neurol.2018.04.016. PMID: 30846210
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
Gangliosidoses.
Patterson MC
Handb Clin Neurol 2013;113:1707-8. doi: 10.1016/B978-0-444-59565-2.00039-3. PMID: 23622392

Diagnosis

Genetic Associations With an Amyotrophic Lateral Sclerosis Reversal Phenotype.
Crayle JI, Rampersaud E, Myers JR, Wuu J, Taylor JP, Wu G, Benatar M, Bedlack RS
Neurology 2024 Aug 27;103(4):e209696. Epub 2024 Jul 30 doi: 10.1212/WNL.0000000000209696. PMID: 39079071Free PMC Article
Atypical Motor Neuron Disease variants: Still a diagnostic challenge in Neurology.
Pinto WBVR, Debona R, Nunes PP, Assis ACD, Lopes CG, Bortholin T, Dias RB, Naylor FGM, Chieia MAT, Souza PVS, Oliveira ASB
Rev Neurol (Paris) 2019 Apr;175(4):221-232. Epub 2019 Mar 4 doi: 10.1016/j.neurol.2018.04.016. PMID: 30846210
Progressive Muscular Atrophy.
Liewluck T, Saperstein DS
Neurol Clin 2015 Nov;33(4):761-73. doi: 10.1016/j.ncl.2015.07.005. PMID: 26515620
Gangliosidoses.
Patterson MC
Handb Clin Neurol 2013;113:1707-8. doi: 10.1016/B978-0-444-59565-2.00039-3. PMID: 23622392
Progressive muscular atrophy and other lower motor neuron syndromes of adults.
Rowland LP
Muscle Nerve 2010 Feb;41(2):161-5. doi: 10.1002/mus.21565. PMID: 20082312

Therapy

Safety and efficacy of memantine and trazodone versus placebo for motor neuron disease (MND SMART): stage two interim analysis from the first cycle of a phase 3, multiarm, multistage, randomised, adaptive platform trial.
Pal S, Chataway J, Swingler R, Macleod MR, Carragher NO, Hardingham G, Selvaraj BT, Smith C, Wong C, Newton J, Lyle D, Stenson A, Dakin RS, Ihenacho A, Colville S, Mehta AR, Stallard N, Carpenter JR, Parker RA, Keerie C, Weir CJ, Virgo B, Morris S, Waters N, Gray B, MacDonald D, MacDonald E, Parmar MKB, Chandran S; MND SMART Investigators
Lancet Neurol 2024 Nov;23(11):1097-1107. Epub 2024 Sep 19 doi: 10.1016/S1474-4422(24)00326-0. PMID: 39307154
Genetic Associations With an Amyotrophic Lateral Sclerosis Reversal Phenotype.
Crayle JI, Rampersaud E, Myers JR, Wuu J, Taylor JP, Wu G, Benatar M, Bedlack RS
Neurology 2024 Aug 27;103(4):e209696. Epub 2024 Jul 30 doi: 10.1212/WNL.0000000000209696. PMID: 39079071Free PMC Article
Acceptance and Commitment Therapy plus usual care for improving quality of life in people with motor neuron disease (COMMEND): a multicentre, parallel, randomised controlled trial in the UK.
Gould RL, McDermott CJ, Thompson BJ, Rawlinson CV, Bursnall M, Bradburn M, Kumar P, Turton EJ, White DA, Serfaty MA, Graham CD, McCracken LM, Goldstein LH, Al-Chalabi A, Orrell RW, Williams T, Noad R, Baker I, Faull C, Lambert T, Chhetri SK, Ealing J, Hanratty A, Radunovic A, Gunawardana N, Meadows G, Gorrie GH, Young T, Lawrence V, Cooper C, Shaw PJ, Howard RJ; COMMEND Collaboration Group
Lancet 2024 Jun 1;403(10442):2381-2394. Epub 2024 May 9 doi: 10.1016/S0140-6736(24)00533-6. PMID: 38735299
Clinical features of amyotrophic lateral sclerosis and their prognostic value.
Tard C, Defebvre L, Moreau C, Devos D, Danel-Brunaud V
Rev Neurol (Paris) 2017 May;173(5):263-272. Epub 2017 May 4 doi: 10.1016/j.neurol.2017.03.029. PMID: 28477850
Progressive Muscular Atrophy.
Liewluck T, Saperstein DS
Neurol Clin 2015 Nov;33(4):761-73. doi: 10.1016/j.ncl.2015.07.005. PMID: 26515620

Prognosis

Regional spreading pattern is associated with clinical phenotype in amyotrophic lateral sclerosis.
Maranzano A, Verde F, Colombo E, Poletti B, Doretti A, Bonetti R, Gagliardi D, Meneri M, Maderna L, Messina S, Corti S, Morelli C, Silani V, Ticozzi N
Brain 2023 Oct 3;146(10):4105-4116. doi: 10.1093/brain/awad129. PMID: 37075222Free PMC Article
Structural and functional brain connectome in motor neuron diseases: A multicenter MRI study.
Basaia S, Agosta F, Cividini C, Trojsi F, Riva N, Spinelli EG, Moglia C, Femiano C, Castelnovo V, Canu E, Falzone Y, Monsurrò MR, Falini A, Chiò A, Tedeschi G, Filippi M
Neurology 2020 Nov 3;95(18):e2552-e2564. Epub 2020 Sep 10 doi: 10.1212/WNL.0000000000010731. PMID: 32913015Free PMC Article
Demographics and clinical characteristics of primary lateral sclerosis: case series and a review of literature.
Ramanathan RS, Rana S
Neurodegener Dis Manag 2018 Feb;8(1):17-23. Epub 2018 Jan 10 doi: 10.2217/nmt-2017-0051. PMID: 29316850
Clinical features of amyotrophic lateral sclerosis and their prognostic value.
Tard C, Defebvre L, Moreau C, Devos D, Danel-Brunaud V
Rev Neurol (Paris) 2017 May;173(5):263-272. Epub 2017 May 4 doi: 10.1016/j.neurol.2017.03.029. PMID: 28477850
Disease course and prognostic factors of progressive muscular atrophy.
Visser J, van den Berg-Vos RM, Franssen H, van den Berg LH, Wokke JH, de Jong JM, Holman R, de Haan RJ, de Visser M
Arch Neurol 2007 Apr;64(4):522-8. doi: 10.1001/archneur.64.4.522. PMID: 17420313

Clinical prediction guides

Familial motor neuron disease: co-occurrence of PLS and ALS (-FTD).
de Boer EMJ, Demaegd KC, de Bie CI, Veldink JH, van den Berg LH, van Es MA
Amyotroph Lateral Scler Frontotemporal Degener 2024 Feb;25(1-2):53-60. Epub 2023 Sep 7 doi: 10.1080/21678421.2023.2255621. PMID: 37679883
Regional spreading pattern is associated with clinical phenotype in amyotrophic lateral sclerosis.
Maranzano A, Verde F, Colombo E, Poletti B, Doretti A, Bonetti R, Gagliardi D, Meneri M, Maderna L, Messina S, Corti S, Morelli C, Silani V, Ticozzi N
Brain 2023 Oct 3;146(10):4105-4116. doi: 10.1093/brain/awad129. PMID: 37075222Free PMC Article
Louis Duménil (1823-1890), surgeon and pioneer in neurology.
Walusinski O
Rev Neurol (Paris) 2022 Apr;178(4):298-305. Epub 2021 Sep 23 doi: 10.1016/j.neurol.2021.06.011. PMID: 34565621
Atypical Motor Neuron Disease variants: Still a diagnostic challenge in Neurology.
Pinto WBVR, Debona R, Nunes PP, Assis ACD, Lopes CG, Bortholin T, Dias RB, Naylor FGM, Chieia MAT, Souza PVS, Oliveira ASB
Rev Neurol (Paris) 2019 Apr;175(4):221-232. Epub 2019 Mar 4 doi: 10.1016/j.neurol.2018.04.016. PMID: 30846210
Atopy and neural damage.
Kira J
Intern Med 2002 Mar;41(3):169-74. doi: 10.2169/internalmedicine.41.169. PMID: 11929175

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