U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Bulbospinal muscular atrophy of adulthood

MedGen UID:
1843075
•Concept ID:
C5680796
•
Disease or Syndrome
Synonym: Bulbospinal muscular atrophy of adult
 
Orphanet: ORPHA206707

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVBulbospinal muscular atrophy of adulthood

Professional guidelines

PubMed

Multidisciplinary approach and psychosocial management of spinal muscular atrophy (SMA).
Ropars J, Peudenier S, Genot A, Barnerias C, Espil C
Arch Pediatr 2020 Dec;27(7S):7S45-7S49. doi: 10.1016/S0929-693X(20)30277-3. PMID: 33357598
A Historical and Current Review of Newborn Screening for Neuromuscular Disorders From Around the World: Lessons for the United States.
Ross LF, Clarke AJ
Pediatr Neurol 2017 Dec;77:12-22. Epub 2017 Aug 25 doi: 10.1016/j.pediatrneurol.2017.08.012. PMID: 29079012
Cystic fibrosis newborn screening: a model for neuromuscular disease screening?
Scully MA, Farrell PM, Ciafaloni E, Griggs RC, Kwon JM
Ann Neurol 2015 Feb;77(2):189-97. Epub 2014 Dec 13 doi: 10.1002/ana.24316. PMID: 25425541

Recent clinical studies

Etiology

Systematic Literature Review of the Natural History of Spinal Muscular Atrophy: Motor Function, Scoliosis, and Contractures.
Aponte Ribero V, Martí Y, Batson S, Mitchell S, Gorni K, Gusset N, Oskoui M, Servais L, Sutherland CS
Neurology 2023 Nov 21;101(21):e2103-e2113. Epub 2023 Oct 9 doi: 10.1212/WNL.0000000000207878. PMID: 37813581Free PMC Article
Motoneuron Diseases.
Lotti F, Przedborski S
Adv Neurobiol 2022;28:323-352. doi: 10.1007/978-3-031-07167-6_13. PMID: 36066831
Pregnancy outcomes in women with spinal muscular atrophy: A review.
Abati E, Corti S
J Neurol Sci 2018 May 15;388:50-60. Epub 2018 Mar 2 doi: 10.1016/j.jns.2018.03.001. PMID: 29627031
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
Anesthesia and spinal muscle atrophy.
Islander G
Paediatr Anaesth 2013 Sep;23(9):804-16. Epub 2013 Apr 19 doi: 10.1111/pan.12159. PMID: 23601145

Diagnosis

Spinal Muscular Atrophy: A (Now) Treatable Neurodegenerative Disease.
Fay A
Pediatr Clin North Am 2023 Oct;70(5):963-977. Epub 2023 Jul 26 doi: 10.1016/j.pcl.2023.06.002. PMID: 37704354
Clinical features of spinal muscular atrophy (SMA) type 3 (Kugelberg-Welander disease).
Salort-Campana E, Quijano-Roy S
Arch Pediatr 2020 Dec;27(7S):7S23-7S28. doi: 10.1016/S0929-693X(20)30273-6. PMID: 33357593
Differentiating lower motor neuron syndromes.
Garg N, Park SB, Vucic S, Yiannikas C, Spies J, Howells J, Huynh W, Matamala JM, Krishnan AV, Pollard JD, Cornblath DR, Reilly MM, Kiernan MC
J Neurol Neurosurg Psychiatry 2017 Jun;88(6):474-483. Epub 2016 Dec 21 doi: 10.1136/jnnp-2016-313526. PMID: 28003344Free PMC Article
Onset Manifestations of Spinal and Bulbar Muscular Atrophy (Kennedy's Disease).
Finsterer J, Soraru G
J Mol Neurosci 2016 Mar;58(3):321-9. Epub 2015 Oct 19 doi: 10.1007/s12031-015-0663-x. PMID: 26482145
Anesthesia and spinal muscle atrophy.
Islander G
Paediatr Anaesth 2013 Sep;23(9):804-16. Epub 2013 Apr 19 doi: 10.1111/pan.12159. PMID: 23601145

Therapy

What Happens to Our Neuromuscular Patients in Adulthood: Pathway to Independence and Maximal Function.
Koop SE, Shrader MW
J Pediatr Orthop 2021 Jul 1;41(Suppl 1):S87-S89. doi: 10.1097/BPO.0000000000001779. PMID: 34096544
Presentation and Management Patterns of Lower Urinary Tract Symptoms in Adults Due to Rare Inherited Neuromuscular Diseases.
Roth JD, Pariser JJ, Stout TE, Misseri R, Elliott SP
Urology 2020 Jan;135:165-170. Epub 2019 Oct 15 doi: 10.1016/j.urology.2019.09.039. PMID: 31626855
Time Is Motor Neuron: Therapeutic Window and Its Correlation with Pathogenetic Mechanisms in Spinal Muscular Atrophy.
Govoni A, Gagliardi D, Comi GP, Corti S
Mol Neurobiol 2018 Aug;55(8):6307-6318. Epub 2018 Jan 2 doi: 10.1007/s12035-017-0831-9. PMID: 29294245
Perspectives on clinical trials in spinal muscular atrophy.
Swoboda KJ, Kissel JT, Crawford TO, Bromberg MB, Acsadi G, D'Anjou G, Krosschell KJ, Reyna SP, Schroth MK, Scott CB, Simard LR
J Child Neurol 2007 Aug;22(8):957-66. doi: 10.1177/0883073807305665. PMID: 17761650Free PMC Article
Challenges and opportunities in clinical trials for spinal muscular atrophy.
Hirtz D, Iannaccone S, Heemskerk J, Gwinn-Hardy K, Moxley R 3rd, Rowland LP
Neurology 2005 Nov 8;65(9):1352-7. doi: 10.1212/01.wnl.0000183282.10946.c7. PMID: 16275820

Prognosis

Natural history of lung function in spinal muscular atrophy.
Wijngaarde CA, Veldhoen ES, van Eijk RPA, Stam M, Otto LAM, Asselman FL, Wösten-van Asperen RM, Hulzebos EHJ, Verweij-van den Oudenrijn LP, Bartels B, Cuppen I, Wadman RI, van den Berg LH, van der Ent CK, van der Pol WL
Orphanet J Rare Dis 2020 Apr 10;15(1):88. doi: 10.1186/s13023-020-01367-y. PMID: 32276635Free PMC Article
Pregnancy outcomes in women with spinal muscular atrophy: A review.
Abati E, Corti S
J Neurol Sci 2018 May 15;388:50-60. Epub 2018 Mar 2 doi: 10.1016/j.jns.2018.03.001. PMID: 29627031
Motor neuropathies and lower motor neuron syndromes.
Verschueren A
Rev Neurol (Paris) 2017 May;173(5):320-325. Epub 2017 Apr 20 doi: 10.1016/j.neurol.2017.03.018. PMID: 28434507
Nosology of juvenile muscular atrophy of distal upper extremity: from monomelic amyotrophy to Hirayama disease--Indian perspective.
Hassan KM, Sahni H
Biomed Res Int 2013;2013:478516. Epub 2013 Aug 26 doi: 10.1155/2013/478516. PMID: 24063005Free PMC Article
Challenges and opportunities in clinical trials for spinal muscular atrophy.
Hirtz D, Iannaccone S, Heemskerk J, Gwinn-Hardy K, Moxley R 3rd, Rowland LP
Neurology 2005 Nov 8;65(9):1352-7. doi: 10.1212/01.wnl.0000183282.10946.c7. PMID: 16275820

Clinical prediction guides

Systematic Literature Review of the Natural History of Spinal Muscular Atrophy: Motor Function, Scoliosis, and Contractures.
Aponte Ribero V, Martí Y, Batson S, Mitchell S, Gorni K, Gusset N, Oskoui M, Servais L, Sutherland CS
Neurology 2023 Nov 21;101(21):e2103-e2113. Epub 2023 Oct 9 doi: 10.1212/WNL.0000000000207878. PMID: 37813581Free PMC Article
Neurological and Psychiatric Aspects of Biological Markers for the Provision of Medical Care to Patients with Spinal Muscular Atrophy 5q.
Gayduk AJ, Syunyakov T, Gazheva AV, Strelnik A, Chigareva O, Kuznetsov A, Kokorev D, Sustretov A, Cumming P, Vlasov YV
Psychiatr Danub 2023 Oct;35(Suppl 2):322-328. PMID: 37800249
Clinical and radiological profile of patients with spinal muscular atrophy type 4.
Souza PVS, Pinto WBVR, Ricarte A, Badia BML, Seneor DD, Teixeira DT, Caetano L, Gonçalves EA, Chieia MAT, Farias IB, Bertini E, Oliveira ASB
Eur J Neurol 2021 Feb;28(2):609-619. Epub 2020 Nov 12 doi: 10.1111/ene.14587. PMID: 33090613
Natural history of lung function in spinal muscular atrophy.
Wijngaarde CA, Veldhoen ES, van Eijk RPA, Stam M, Otto LAM, Asselman FL, Wösten-van Asperen RM, Hulzebos EHJ, Verweij-van den Oudenrijn LP, Bartels B, Cuppen I, Wadman RI, van den Berg LH, van der Ent CK, van der Pol WL
Orphanet J Rare Dis 2020 Apr 10;15(1):88. doi: 10.1186/s13023-020-01367-y. PMID: 32276635Free PMC Article
Nosology of juvenile muscular atrophy of distal upper extremity: from monomelic amyotrophy to Hirayama disease--Indian perspective.
Hassan KM, Sahni H
Biomed Res Int 2013;2013:478516. Epub 2013 Aug 26 doi: 10.1155/2013/478516. PMID: 24063005Free PMC Article

Recent systematic reviews

Systematic Literature Review of the Natural History of Spinal Muscular Atrophy: Motor Function, Scoliosis, and Contractures.
Aponte Ribero V, Martí Y, Batson S, Mitchell S, Gorni K, Gusset N, Oskoui M, Servais L, Sutherland CS
Neurology 2023 Nov 21;101(21):e2103-e2113. Epub 2023 Oct 9 doi: 10.1212/WNL.0000000000207878. PMID: 37813581Free PMC Article
Health, wellbeing and lived experiences of adults with SMA: a scoping systematic review.
Wan HWY, Carey KA, D'Silva A, Vucic S, Kiernan MC, Kasparian NA, Farrar MA
Orphanet J Rare Dis 2020 Mar 12;15(1):70. doi: 10.1186/s13023-020-1339-3. PMID: 32164772Free PMC Article
Living a normal life in an extraordinary way: A systematic review investigating experiences of families of young people's transition into adulthood when affected by a genetic and chronic childhood condition.
Waldboth V, Patch C, Mahrer-Imhof R, Metcalfe A
Int J Nurs Stud 2016 Oct;62:44-59. Epub 2016 Jul 12 doi: 10.1016/j.ijnurstu.2016.07.007. PMID: 27450665

Supplemental Content

Table of contents

    Clinical resources

    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.

    Consumer resources

    Reviews

    Related information

    • 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...