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Progressive spinal muscular atrophy

MedGen UID:
906831
•Concept ID:
C4082951
•
Disease or Syndrome
Synonyms: PMA; progressive muscular atrophy; Progressive muscular atrophy; Progressive Spinal Muscle Atrophy; Progressive spinal muscle degeneration; Progressive spinal muscle wasting; progressive spinal muscular atrophy; pure progressive muscular atrophy
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
•Concept ID:
CN307044
•
Finding
Source: Orphanet
clinical entity without genetic inheritance.
See: This record
Not genetically inherited (Orphanet)
 
HPO: HP:0009067
Monarch Initiative: MONDO:0018687
Orphanet: ORPHA454706

Definition

Progressive spinal muscular atrophy, i.e., muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Progressive spinal muscular atrophy

Professional guidelines

PubMed

Progressive spinal muscular atrophy and its variants. The value of electromyography in its differential diagnosis.
MARINACCI AA
Bull Los Angel Neuro Soc 1962 Sep;27:104-19. PMID: 14469857

Recent clinical studies

Etiology

The Swedish motor neuron disease quality registry.
Longinetti E, Regodón Wallin A, Samuelsson K, Press R, Zachau A, Ronnevi LO, Kierkegaard M, Andersen PM, Hillert J, Fang F, Ingre C
Amyotroph Lateral Scler Frontotemporal Degener 2018 Nov;19(7-8):528-537. Epub 2018 Oct 9 doi: 10.1080/21678421.2018.1497065. PMID: 30296856
Cold paresis in multifocal motor neuropathy.
Straver DC, van Asseldonk JT, Notermans NC, Wokke JH, van den Berg LH, Franssen H
J Neurol 2011 Feb;258(2):212-7. Epub 2010 Aug 28 doi: 10.1007/s00415-010-5712-3. PMID: 20803025Free PMC Article
Localisation of the gene for a dominant congenital spinal muscular atrophy predominantly affecting the lower limbs to chromosome 12q23-q24.
van der Vleuten AJ, van Ravenswaaij-Arts CM, Frijns CJ, Smits AP, Hageman G, Padberg GW, Kremer H
Eur J Hum Genet 1998 Jul-Aug;6(4):376-82. doi: 10.1038/sj.ejhg.5200229. PMID: 9781046
Lymphoproliferative disorders and motor neuron disease: an update.
Gordon PH, Rowland LP, Younger DS, Sherman WH, Hays AP, Louis ED, Lange DJ, Trojaborg W, Lovelace RE, Murphy PL, Latov N
Neurology 1997 Jun;48(6):1671-8. doi: 10.1212/wnl.48.6.1671. PMID: 9191785
Childhood progressive spinal muscular atrophy with facioscapulo-humeral predominance, sensory and autonomic involvement and optic atrophy.
Schmitt HP, Härle M, Koelfen W, Nissen KH
Brain Dev 1994 Sep-Oct;16(5):386-92. doi: 10.1016/0387-7604(94)90126-0. PMID: 7892958

Diagnosis

The Swedish motor neuron disease quality registry.
Longinetti E, Regodón Wallin A, Samuelsson K, Press R, Zachau A, Ronnevi LO, Kierkegaard M, Andersen PM, Hillert J, Fang F, Ingre C
Amyotroph Lateral Scler Frontotemporal Degener 2018 Nov;19(7-8):528-537. Epub 2018 Oct 9 doi: 10.1080/21678421.2018.1497065. PMID: 30296856
Rapidly progressive spinal muscular atrophy in an ambulatory 2-year-old male.
Lin J, da Silva RJ, Grillo E
Pediatr Neurol 2005 Jul;33(1):72-4. Epub 2005 Apr 13 doi: 10.1016/j.pediatrneurol.2004.12.013. PMID: 15993324
Lymphoproliferative disorders and motor neuron disease: an update.
Gordon PH, Rowland LP, Younger DS, Sherman WH, Hays AP, Louis ED, Lange DJ, Trojaborg W, Lovelace RE, Murphy PL, Latov N
Neurology 1997 Jun;48(6):1671-8. doi: 10.1212/wnl.48.6.1671. PMID: 9191785
Infantile progressive spinal muscular atrophy with ophthalmoplegia and pyramidal symptoms.
Hamano K, Tsukamoto H, Yazawa T, Yoshimura M, Takita H
Pediatr Neurol 1994 Jun;10(4):320-4. doi: 10.1016/0887-8994(94)90130-9. PMID: 8068160
Childhood progressive spinal muscular atrophy with facioscapulo-humeral predominance, sensory and autonomic involvement and optic atrophy.
Schmitt HP, Härle M, Koelfen W, Nissen KH
Brain Dev 1994 Sep-Oct;16(5):386-92. doi: 10.1016/0387-7604(94)90126-0. PMID: 7892958

Therapy

Palliative Sedation via Intraosseous Vascular Access: A Safe and Feasible Way to Obtain a Vascular Access End of Life.
Mansfeld A, Radafshar M, Thorgeirsson H, Höijer CJ, Segerlantz M
J Palliat Med 2019 Jan;22(1):109-111. doi: 10.1089/jpm.2018.0398. PMID: 30633698
The epidemiology of neuromuscular disorders: Age at onset and gender in the Netherlands.
Deenen JC, van Doorn PA, Faber CG, van der Kooi AJ, Kuks JB, Notermans NC, Visser LH, Horlings CG, Verschuuren JJ, Verbeek AL, van Engelen BG
Neuromuscul Disord 2016 Jul;26(7):447-52. Epub 2016 Apr 21 doi: 10.1016/j.nmd.2016.04.011. PMID: 27212207
Detection of cortical neuron loss in motor neuron disease by proton magnetic resonance spectroscopic imaging in vivo.
Pioro EP, Antel JP, Cashman NR, Arnold DL
Neurology 1994 Oct;44(10):1933-8. doi: 10.1212/wnl.44.10.1933. PMID: 7936250
Therapeutic results in progressive spinal muscular atrophy. Report of a case.
Nielsen JM
Bull Los Angeles Neurol Soc 1965 Dec;30(4):210-1. PMID: 5866990

Prognosis

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
Sporadic lower motor neuron disease with adult onset: classification of subtypes.
van den Berg-Vos RM, Visser J, Franssen H, de Visser M, de Jong JM, Kalmijn S, Wokke JH, van den Berg LH
Brain 2003 May;126(Pt 5):1036-47. doi: 10.1093/brain/awg117. PMID: 12690044
Lymphoproliferative disorders and motor neuron disease: an update.
Gordon PH, Rowland LP, Younger DS, Sherman WH, Hays AP, Louis ED, Lange DJ, Trojaborg W, Lovelace RE, Murphy PL, Latov N
Neurology 1997 Jun;48(6):1671-8. doi: 10.1212/wnl.48.6.1671. PMID: 9191785
Childhood progressive spinal muscular atrophy with facioscapulo-humeral predominance, sensory and autonomic involvement and optic atrophy.
Schmitt HP, Härle M, Koelfen W, Nissen KH
Brain Dev 1994 Sep-Oct;16(5):386-92. doi: 10.1016/0387-7604(94)90126-0. PMID: 7892958
Progressive spinal muscular atrophy in infancy and childhood.
Gamstorp I
Acta Neurol Scand 1967;43(S31):175. doi: 10.1111/j.1600-0404.1967.tb02106.x. PMID: 4230594

Clinical prediction guides

Symptoms of activity-induced weakness in peripheral nervous system disorders.
Straver DC, van den Berg LH, van Doorn PA, Franssen H
J Peripher Nerv Syst 2011 Jun;16(2):108-12. doi: 10.1111/j.1529-8027.2011.00327.x. PMID: 21692909
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
Finger cold-induced vasodilatation, sympathetic skin response, and R-R interval variation in patients with progressive spinal muscular atrophy.
Arai H, Tanabe Y, Hachiya Y, Otsuka E, Kumada S, Furushima W, Kohyama J, Yamashita S, Takanashi J, Kohno Y
J Child Neurol 2005 Nov;20(11):871-5. doi: 10.1177/08830738050200110301. PMID: 16417857
Rapidly progressive spinal muscular atrophy in an ambulatory 2-year-old male.
Lin J, da Silva RJ, Grillo E
Pediatr Neurol 2005 Jul;33(1):72-4. Epub 2005 Apr 13 doi: 10.1016/j.pediatrneurol.2004.12.013. PMID: 15993324
Epidemiology of motor neuron disease in northern Sweden.
Forsgren L, Almay BG, Holmgren G, Wall S
Acta Neurol Scand 1983 Jul;68(1):20-9. doi: 10.1111/j.1600-0404.1983.tb04810.x. PMID: 6604389

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