U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

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
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
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

User perspectives on a psychosocial blended support program for partners of patients with amyotrophic lateral sclerosis and progressive muscular atrophy: a qualitative study.
de Wit J, Vervoort SCJM, van Eerden E, van den Berg LH, Visser-Meily JMA, Beelen A, Schröder CD
BMC Psychol 2019 Jun 15;7(1):35. doi: 10.1186/s40359-019-0308-x. PMID: 31202270Free PMC Article
A blended psychosocial support program for partners of patients with amyotrophic lateral sclerosis and progressive muscular atrophy: protocol of a randomized controlled trial.
de Wit J, Beelen A, Drossaert CHC, Kolijn R, van den Berg LH, Visser-Meily JMA, Schröder CD
BMC Psychol 2018 May 2;6(1):20. doi: 10.1186/s40359-018-0232-5. PMID: 29716660Free 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
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

Role of the nigrosome 1 absence as a biomarker in amyotrophic lateral sclerosis.
Moreno-Gambín MI, Tembl JI, Mazón M, Cañada-Martínez AJ, Martí-Bonmatí L, Sevilla T, Vázquez-Costa JF
J Neurol 2022 Mar;269(3):1631-1640. Epub 2021 Aug 11 doi: 10.1007/s00415-021-10729-w. PMID: 34379200Free PMC Article
User perspectives on a psychosocial blended support program for partners of patients with amyotrophic lateral sclerosis and progressive muscular atrophy: a qualitative study.
de Wit J, Vervoort SCJM, van Eerden E, van den Berg LH, Visser-Meily JMA, Beelen A, Schröder CD
BMC Psychol 2019 Jun 15;7(1):35. doi: 10.1186/s40359-019-0308-x. PMID: 31202270Free 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

Role of the nigrosome 1 absence as a biomarker in amyotrophic lateral sclerosis.
Moreno-Gambín MI, Tembl JI, Mazón M, Cañada-Martínez AJ, Martí-Bonmatí L, Sevilla T, Vázquez-Costa JF
J Neurol 2022 Mar;269(3):1631-1640. Epub 2021 Aug 11 doi: 10.1007/s00415-021-10729-w. PMID: 34379200Free 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
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
Atopy and neural damage.
Kira J
Intern Med 2002 Mar;41(3):169-74. doi: 10.2169/internalmedicine.41.169. PMID: 11929175

Supplemental Content

Table of contents

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Related information

    • MeSH
      Related Medical Subject Headings
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...