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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

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
Diagnostic challenges in ALS.
Belsh JM
Neurology 1999;53(8 Suppl 5):S26-30; discussion S35-6. PMID: 10560634

Therapy

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
Stem cell therapy in amyotrophic lateral sclerosis.
Meamar R, Nasr-Esfahani MH, Mousavi SA, Basiri K
J Clin Neurosci 2013 Dec;20(12):1659-63. Epub 2013 Oct 19 doi: 10.1016/j.jocn.2013.04.024. PMID: 24148693

Prognosis

Intellectual abilities, language comprehension, speech, and motor function in children with spinal muscular atrophy type 1.
Zappa G, LoMauro A, Baranello G, Cavallo E, Corti P, Mastella C, Costantino MA
J Neurodev Disord 2021 Feb 2;13(1):9. doi: 10.1186/s11689-021-09355-4. PMID: 33530934Free PMC Article
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
Unilateral progressive muscular atrophy with fast symptoms progression.
Bogucki A, Pigońska J, Szadkowska I, Gajos A
Neurol Neurochir Pol 2016;50(1):52-4. Epub 2015 Nov 5 doi: 10.1016/j.pjnns.2015.10.009. PMID: 26851691
Clinical patterns in progressive muscular atrophy (PMA): a prospective study.
de Carvalho M, Scotto M, Swash M
Amyotroph Lateral Scler 2007 Oct;8(5):296-9. doi: 10.1080/17482960701452902. PMID: 17852011
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

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
Nasometric Scores in spinal and bulbar muscular atrophy - Effects of palatal lift prosthesis on dysarthria and dysphagia.
Tanaka S, Hashizume A, Hijikata Y, Yamada S, Ito D, Nakayama A, Kurita K, Yogo H, Banno H, Suzuki K, Yamamoto M, Sobue G, Katsuno M
J Neurol Sci 2019 Dec 15;407:116503. Epub 2019 Oct 15 doi: 10.1016/j.jns.2019.116503. PMID: 31669728
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
Clinical patterns in progressive muscular atrophy (PMA): a prospective study.
de Carvalho M, Scotto M, Swash M
Amyotroph Lateral Scler 2007 Oct;8(5):296-9. doi: 10.1080/17482960701452902. PMID: 17852011
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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