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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

Characteristics of amyotrophic lateral sclerosis in Lebanon-a chart review.
Malek E, Ismail H, Doumiati H, Salameh J
Amyotroph Lateral Scler Frontotemporal Degener 2020 Nov;21(7-8):614-619. Epub 2020 Jul 7 doi: 10.1080/21678421.2020.1788095. PMID: 32633637
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
The clinical spectrum of isolated peripheral motor dysfunction.
Sanderson AB, Arnold WD, Elsheikh B, Kissel JT
Muscle Nerve 2015 Mar;51(3):358-62. Epub 2015 Jan 9 doi: 10.1002/mus.24326. PMID: 25042002Free PMC Article
Pattern difference of dissociated hand muscle atrophy in amyotrophic lateral sclerosis and variants.
Kim JE, Hong YH, Lee JH, Ahn SW, Kim SM, Park KS, Sung JJ, Lee KW, Seong SY
Muscle Nerve 2015 Mar;51(3):333-7. Epub 2015 Jan 29 doi: 10.1002/mus.24323. PMID: 24958627
Gangliosidoses.
Patterson MC
Handb Clin Neurol 2013;113:1707-8. doi: 10.1016/B978-0-444-59565-2.00039-3. PMID: 23622392

Diagnosis

Characteristics of amyotrophic lateral sclerosis in Lebanon-a chart review.
Malek E, Ismail H, Doumiati H, Salameh J
Amyotroph Lateral Scler Frontotemporal Degener 2020 Nov;21(7-8):614-619. Epub 2020 Jul 7 doi: 10.1080/21678421.2020.1788095. PMID: 32633637
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 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
The clinical spectrum of isolated peripheral motor dysfunction.
Sanderson AB, Arnold WD, Elsheikh B, Kissel JT
Muscle Nerve 2015 Mar;51(3):358-62. Epub 2015 Jan 9 doi: 10.1002/mus.24326. PMID: 25042002Free PMC Article

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
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
On the early diagnosis of IVIg-responsive chronic multifocal acquired motor axonopathy.
Fischer D, Grothe C, Schmidt S, Schröder R
J Neurol 2004 Oct;251(10):1204-7. doi: 10.1007/s00415-004-0507-z. PMID: 15503098
Chronic motor axonal neuropathy associated with antibodies monospecific for N-acetylgalactosaminyl GD1a.
Kaji R, Kusunoki S, Mizutani K, Oka N, Kojima Y, Kohara N, Kimura J
Muscle Nerve 2000 May;23(5):702-6. doi: 10.1002/(sici)1097-4598(200005)23:5<702::aid-mus6>3.0.co;2-a. PMID: 10797392

Prognosis

Characteristics of amyotrophic lateral sclerosis in Lebanon-a chart review.
Malek E, Ismail H, Doumiati H, Salameh J
Amyotroph Lateral Scler Frontotemporal Degener 2020 Nov;21(7-8):614-619. Epub 2020 Jul 7 doi: 10.1080/21678421.2020.1788095. PMID: 32633637
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
The clinical spectrum of isolated peripheral motor dysfunction.
Sanderson AB, Arnold WD, Elsheikh B, Kissel JT
Muscle Nerve 2015 Mar;51(3):358-62. Epub 2015 Jan 9 doi: 10.1002/mus.24326. PMID: 25042002Free PMC Article
Broad clinical phenotypes associated with TAR-DNA binding protein (TARDBP) mutations in amyotrophic lateral sclerosis.
Kirby J, Goodall EF, Smith W, Highley JR, Masanzu R, Hartley JA, Hibberd R, Hollinger HC, Wharton SB, Morrison KE, Ince PG, McDermott CJ, Shaw PJ
Neurogenetics 2010 May;11(2):217-25. Epub 2009 Sep 17 doi: 10.1007/s10048-009-0218-9. PMID: 19760257
Onset, natural history and outcome in idiopathic adult motor neuron disease.
Norris F, Shepherd R, Denys E, U K, Mukai E, Elias L, Holden D, Norris H
J Neurol Sci 1993 Aug;118(1):48-55. doi: 10.1016/0022-510x(93)90245-t. PMID: 8229050

Clinical prediction guides

Characteristics of amyotrophic lateral sclerosis in Lebanon-a chart review.
Malek E, Ismail H, Doumiati H, Salameh J
Amyotroph Lateral Scler Frontotemporal Degener 2020 Nov;21(7-8):614-619. Epub 2020 Jul 7 doi: 10.1080/21678421.2020.1788095. PMID: 32633637
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
Pattern difference of dissociated hand muscle atrophy in amyotrophic lateral sclerosis and variants.
Kim JE, Hong YH, Lee JH, Ahn SW, Kim SM, Park KS, Sung JJ, Lee KW, Seong SY
Muscle Nerve 2015 Mar;51(3):333-7. Epub 2015 Jan 29 doi: 10.1002/mus.24323. PMID: 24958627
Predicting the duration of Guam amyotrophic lateral sclerosis.
Reed DM, Brody JA, Holden EM
Neurology 1975 Mar;25(3):277-80. doi: 10.1212/wnl.25.3.277. PMID: 1167636
Observations on pseudohypertrophic myopathy.
SARMA AV
Antiseptic 1951 Nov;48(11):924-7. PMID: 14885973

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