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Bulbospinal muscular atrophy of adulthood

MedGen UID:
944278
•Concept ID:
CN261244
•
Finding
Synonyms: adult bulbospinal muscular atrophy; bulbospinal muscular atrophy of adult; Bulbospinal muscular atrophy of adult; bulbospinal muscular atrophy of adulthood; bulbospinal muscular atrophy of adults
 
Monarch Initiative: MONDO:0016115
Orphanet: ORPHA206707

Definition

A bulbospinal muscular atrophy that occurs in an adult. [from MONDO]

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

Motoneuron Diseases.
Lotti F, Przedborski S
Adv Neurobiol 2022;28:323-352. doi: 10.1007/978-3-031-07167-6_13. PMID: 36066831
Adult-onset non-5q proximal spinal muscular atrophy: a comprehensive review.
Pinto WBVR, Souza PVS, Badia BML, Farias IB, Albuquerque Filho JMV, Gonçalves EA, Machado RIL, Oliveira ASB
Arq Neuropsiquiatr 2021 Oct;79(10):912-923. doi: 10.1590/0004-282X-ANP-2020-0429. PMID: 34706022
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

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
Acid ceramidase deficiency: Farber disease and SMA-PME.
Yu FPS, Amintas S, Levade T, Medin JA
Orphanet J Rare Dis 2018 Jul 20;13(1):121. doi: 10.1186/s13023-018-0845-z. PMID: 30029679Free PMC Article
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
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

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
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
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

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
Quality of life assessment in adult spinal muscular atrophy patients treated with nusinersen.
Bonanno S, Zanin R, Bello L, Tramacere I, Bozzoni V, Caumo L, Ferraro M, Bortolani S, Sorarù G, Silvestrini M, Vacchiano V, Turri M, Tanel R, Liguori R, Coccia M, Mantegazza RE, Mongini T, Pegoraro E, Maggi L
J Neurol 2022 Jun;269(6):3264-3275. Epub 2022 Jan 3 doi: 10.1007/s00415-021-10954-3. PMID: 34978620
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

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