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Spinal Muscular Atrophy, Dominant

MedGen UID:
893629
•Concept ID:
CN239253
•
Disease or Syndrome

Professional guidelines

PubMed

Cost-effectiveness of spinal muscular atrophy newborn screening based on real-world data in Belgium.
Dangouloff T, Thokala P, Stevenson MD, Deconinck N, D'Amico A, Daron A, Delstanche S, Servais L, Hiligsmann M
Neuromuscul Disord 2024 Jan;34:61-67. Epub 2023 Dec 2 doi: 10.1016/j.nmd.2023.11.013. PMID: 38150893
Newborn screening for spinal muscular atrophy with disease-modifying therapies: a cost-effectiveness analysis.
Shih ST, Farrar MA, Wiley V, Chambers G
J Neurol Neurosurg Psychiatry 2021 Dec;92(12):1296-1304. Epub 2021 Jul 28 doi: 10.1136/jnnp-2021-326344. PMID: 34321343
Genotype-phenotype correlation in Chinese patients with spinal and bulbar muscular atrophy.
Ni W, Chen S, Qiao K, Wang N, Wu ZY
PLoS One 2015;10(3):e0122279. Epub 2015 Mar 26 doi: 10.1371/journal.pone.0122279. PMID: 25811990Free PMC Article

Recent clinical studies

Therapy

Newborn screening for spinal muscular atrophy with disease-modifying therapies: a cost-effectiveness analysis.
Shih ST, Farrar MA, Wiley V, Chambers G
J Neurol Neurosurg Psychiatry 2021 Dec;92(12):1296-1304. Epub 2021 Jul 28 doi: 10.1136/jnnp-2021-326344. PMID: 34321343
Two cases of DYNC1H1 mutations with intractable epilepsy.
Matsumoto A, Kojima K, Miya F, Miyauchi A, Watanabe K, Iwamoto S, Kawai K, Kato M, Takahashi Y, Yamagata T
Brain Dev 2021 Sep;43(8):857-862. Epub 2021 Jun 3 doi: 10.1016/j.braindev.2021.05.005. PMID: 34092403
Targeted Oligonucleotides for Treating Neurodegenerative Tandem Repeat Diseases.
Zain R, Smith CIE
Neurotherapeutics 2019 Apr;16(2):248-262. doi: 10.1007/s13311-019-00712-9. PMID: 31098852Free PMC Article
Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease.
Sevilla T, Lupo V, Martínez-Rubio D, Sancho P, Sivera R, Chumillas MJ, García-Romero M, Pascual-Pascual SI, Muelas N, Dopazo J, Vílchez JJ, Palau F, Espinós C
Brain 2016 Jan;139(Pt 1):62-72. Epub 2015 Oct 24 doi: 10.1093/brain/awv311. PMID: 26497905
Advances in therapeutic RNA-targeting.
van Ommen GJ, Aartsma-Rus A
N Biotechnol 2013 Mar 25;30(3):299-301. Epub 2013 Jan 28 doi: 10.1016/j.nbt.2013.01.005. PMID: 23369867

Prognosis

Late adult-onset spinal muscular atrophy with lower extremity predominance (SMALED).
Aziz I, Davis M, Liang C
BMJ Case Rep 2022 Mar 30;15(3) doi: 10.1136/bcr-2021-248297. PMID: 35354563Free PMC Article
TRPV4 related scapuloperoneal spinal muscular atrophy: Report of an Italian family and review of the literature.
Biasini F, Portaro S, Mazzeo A, Vita G, Fabrizi GM, Taioli F, Toscano A, Rodolico C
Neuromuscul Disord 2016 Apr-May;26(4-5):312-5. Epub 2016 Feb 23 doi: 10.1016/j.nmd.2016.02.010. PMID: 26948711
Spinal muscular atrophy.
Talbot K, Davies KE
Semin Neurol 2001 Jun;21(2):189-97. doi: 10.1055/s-2001-15264. PMID: 11442327
Pregnancy and spinal muscular atrophy.
Rudnik-Schöneborn S, Zerres K, Ignatius J, Rietschel M
J Neurol 1992 Jan;239(1):26-30. doi: 10.1007/BF00839207. PMID: 1541965
Classification of spinal muscular atrophies.
Pearn J
Lancet 1980 Apr 26;1(8174):919-22. doi: 10.1016/s0140-6736(80)90847-8. PMID: 6103267

Clinical prediction guides

Quantitative muscle ultrasound in adult spinal muscular atrophy. A pilot study.
Pelosi L, Rodrigues M, Zhong C, Patel S, Roxburgh R
Muscle Nerve 2024 Mar;69(3):349-353. Epub 2023 Dec 29 doi: 10.1002/mus.28034. PMID: 38158390
CHCHD10 mutations induce tissue-specific mitochondrial DNA deletions with a distinct signature.
Shammas MK, Nie Y, Gilsrud A, Huang X, Narendra DP, Chinnery PF
Hum Mol Genet 2023 Dec 12;33(1):91-101. doi: 10.1093/hmg/ddad161. PMID: 37815936Free PMC Article
Nusinersen by subcutaneous intrathecal catheter for symptomatic spinal muscular atrophy patients with complex spine anatomy.
Carson VJ, Young M, Brigatti KW, Robinson DL, Reed RM, Sohn J, Petrillo M, Farwell W, Miller F, Strauss KA
Muscle Nerve 2022 Jan;65(1):51-59. Epub 2021 Oct 19 doi: 10.1002/mus.27425. PMID: 34606118
Molecular Mechanisms and Therapeutic Strategies in Spinocerebellar Ataxia Type 7.
Karam A, Trottier Y
Adv Exp Med Biol 2018;1049:197-218. doi: 10.1007/978-3-319-71779-1_9. PMID: 29427104
Genetic zebrafish models of neurodegenerative diseases.
Bandmann O, Burton EA
Neurobiol Dis 2010 Oct;40(1):58-65. Epub 2010 May 20 doi: 10.1016/j.nbd.2010.05.017. PMID: 20493258

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