Childhood-Onset Spinocerebellar Ataxia 3: Tongue Dystonia as an Early Manifestation

Nester Mitchell; Gaynel A. LaTouche; Beverly Nelson; Karla P. Figueroa; Ruth H. Walker; Andrew K. Sobering

doi:10.5334/tohm.484

Abstract

Background: Dystonia is a relatively common feature of spinocerebellar ataxia 3 (SCA3). Childhood onset of SCA3 is rare and typically associated with either relatively large, or homozygous, CAG repeat expansions.

Case report: We describe a 10-year-old girl with SCA3, who presented with tongue dystonia in addition to limb dystonia and gait ataxia due to a heterozygous expansion of 84 repeats in ATXN3.

Discussion: Diagnosis of the SCAs can be challenging, and even more so in children. Tongue dystonia has not previously been documented in SCA3.

References

1WallaceSE, BirdTD Molecular genetic testing for hereditary ataxia. Neurol Clin Pract 2018;8(1):27–32. doi: 10.1212/CPJ.000000000000042129517052
Back to article
2SunYM, LuC, WuZY Spinocerebellar ataxia: relationship between phenotype and genotype – a review. Clin Genet 2016;90(4):305–14. doi: 10.1111/cge.1280827220866
Back to article
3MundwilerA, ShakkottaiVG Autosomal-dominant cerebellar ataxias. In: GeschwindDH, PaulsonHL, KleinC, editors. Handbook of clinical neurology (vol. 147). Amsterdam: Elsevier B.V.; 2018 (2nd edition), pp. 173–185.
Back to article
4DongY, SunYM, NiW, GanSR, WuZY Chinese patients with spinocerebellar ataxia type 3 presenting with rare clinical symptoms. J Neurol Sci 2013;324:167–71. doi: 10.1016/j.jns.2012.10.03023174085
Back to article
5GiuntiP, SweenyMG, HardingAE Detection of the Machado-Joseph disease/spinocerebellar ataxia three nucleotide repeat expansion in families with autosomal dominant motor disorders, including the Drew family of Walwort. Brain 1995;118:1077–85. doi: 10.1093/brain/118.5.10777496771
Back to article
6KawaguchiY, OkamotoT, TaniwakiM, AizawaM, InoueM, KatayamaS, et al. CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nat Genet 1994;8(3):221–8. doi: 10.1038/ng1194-2217874163
Back to article
7SchölsL, Vieira-saeckerAMM, SchölsS, PrzuntekH, EpplenJT, RiessO Trinucleotide expansion within the MJD1 gene presents clinically as spinocerebellar ataxia and occurs most frequently in german SCA patients. Hum Mol Genet 1995;4(6):1001–5. doi: 10.1093/hmg/4.6.10017655453
Back to article
8du MontcelST, DurrA, RakowiczM, NanettiL, CharlesP, SulekA, et al. Prediction of the age at onset in spinocerebellar ataxia type 1, 2, 3 and 6. J Med Genet 2014;51(7):479–86. doi: 10.1136/jmedgenet-2013-10220024780882
Back to article
9JacobiH, du MontcelST, BauerP, GiuntiP, CookA, LabrumR, et al. Long-term disease progression in spinocerebellar ataxia types 1, 2, 3, and 6: a longitudinal cohort study. Lancet Neurol 2015;14(11):1101–8. doi: 10.1016/S1474-4422(15)00202-126377379
Back to article
10ZhouYX, TakiyamaY, IgarashiS, LiYF, ZhouBY, GuiDC, et al. Machado-Joseph disease in four Chinese pedigrees: molecular analysis of 15 patients including two juvenile cases and clinical correlations. Neurology 1997;48:482–5. doi: 10.1212/WNL.48.2.4829040742
Back to article
11DonisKC, SauteAJM, Krum-santosAC, FurtadoGV, MattosEP, Saraiva-PereiraML, et al. Spinocerebellar ataxia type 3/Machado-Joseph disease starting before adolescence. Neurogenetics 2016;17:107–13. doi: 10.1007/s10048-016-0473-526780339
Back to article
12CarvalhoDR, La Rocque-FerreiraA, RizzoIM, ImamuraEU, Speck-MartinsCE Homozygosity enhances severity in spinocerebellar ataxia type 3. Pediatr Neurol 2008;38(4):296–9. doi: 10.1016/j.pediatrneurol.2007.12.00618358414
Back to article
13ZengS, ZengJ, HeM, ZengX, ZhouY, LiuZ, et al. Chinese homozygous Machado-Joseph disease (MJD)/SCA3: a case report. J Hum Genet 2015;60:157–60. doi: 10.1038/jhg.2014.11725566755
Back to article
14Bettencourt, Conceiccao RaposoM, KazachkovaN, CymbronT, SantosC, KayT, VasconcelosJ, et al. The APOE E2 allele increases the risk of earlier age at onset in Machado-Joseph disease. Arch Neurol 2011;68(12):1580–3. doi: 10.1001/archneurol.2011.63622159055
Back to article
15ChenS, GanS, CaiP-P, NiW, ZhouQ, DongY, et al. Mitochondrial NADH Dehydrogenase subunit 3 polymorphism associated with an earlier age at onset in male Machado-Joseph disease patients. CNS Neurosci Ther 2016;22:38–42. doi: 10.1111/cns.1244326336829
Back to article
16ZhouQ, NiW, DongY, WangN, GanS-R, WuZ-Y The role of apolipoprotein E as a risk factor for an earlier age at onset for Machado-Joseph disease is doubtful. PLoS One 2014;9(11):9–12. doi: 10.1371/journal.pone.0111356
Back to article
17De MattosEP, Kolbe MusskopfM, Bielefeldt LeottiV, Saraiva-PereiraML, JardimLB Genetic risk factors for modulation of age at onset in Machado-Joseph disease/spinocerebellar ataxia type 3: a systematic review and meta-analysis. J Neurol Neurosurg Psychiatry 2019;90(2):203–10. doi: 10.1136/jnnp-2018-31920030337442
Back to article
18du MontcelST, DurrA, BauerP, FigueroaKP, IchikawaY, BrussinoA, et al. Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes. Brain 2014;137(9):2444–55. doi: 10.1093/brain/awu17424972706
Back to article
19PaulsonH Machado-Joseph disease/spinocerebellar ataxia type 3. Handb Clin Neurol 2012;103:437–49. doi: 10.1016/B978-0-444-51892-7.00027-921827905
Back to article
20NunesMB, MartinezARM, RezendeTJR, FriedmanJH, Lopes-CendesI, D’AbreuA, et al. Dystonia in Machado-Joseph disease: clinical profile, therapy and anatomical basis. Park Relat Disord 2015;21(12):1441–7. doi: 10.1016/j.parkreldis.2015.10.016
Back to article
21CataiLMP, CamargoCHF, MoroA, RibasG, RaskinS, TeiveHAG Dystonia in patients with spinocerebellar ataxia 3 – Machado-Joseph disease: an underestimated diagnosis? Open Neurol J 2018;12:41–9. doi: 10.2174/1874205X0181201004130008965
Back to article
22MoroA, MunhozRP, MoscovichM, ArrudaWO, RaskinS, TeiveHAG Movement disorders in spinocerebellar ataxias in a cohort of brazilian patients. Eur Neurol 2014;72(5–6):360–2. doi: 10.1159/00036528525322786
Back to article
23RaoofiS, KhorshidiH, NajafiM Etiology, Diagnosis and management of oromandibular dystonia: an update for stomatologists. J Dent Shiraz Univ Med Sci 2017;18(2):73–81.
Back to article
24TermsarasabP, TanenbaumDR, FruchtSJ The phenomenology and natural history of idiopathic lower cranial dystonia. J Clin Mov Disord 2014;1(3):1–10. doi: 10.1186/2054-7072-1-326788327
Back to article
25SchneiderSA, AggarwalA, BhattM, DupontE, TischS, LimousinP, et al. Severe tongue protrusion dystonia clinical syndromes and possible treatment. Neurology 2006;67:940–3. doi: 10.1212/01.wnl.0000237446.06971.7217000958
Back to article
26AshizawaT, FigueroaKP, PerlmanSL, GomezCM, WilmotGR, SchmahmannJD, et al. Clinical characteristics of spinocerebellar ataxias 1, 2, 3 and 6 in the US; a prospective observational study. Orphanet J Rare Dis 2013;8:1–8. doi: 10.1186/1750-1172-8-17723286897
Back to article
27MoscovichM, OkunMS, FavillaC, FigueroaKP, PulstSM, PerlmanS, et al. Clinical evaluation of eye movements in spinocerebellar ataxias: a prospective multicenter study. J Neuro-Ophthalmology 2015;35(1):1–11. doi: 10.1097/WNO.0000000000000167
Back to article
28GantenbeinAR, Damon-PerriereN, BohlenderJE, ChauveauM, LatxagueC, MirandaM, et al. Feeding dystonia in McLeod syndrome. Mov Disord 2011;26(11):2123–6. doi: 10.1002/mds.2384321714011
Back to article
29GonzálezCA, DíazAV, RiescoDF, ChávezMH Oral self-mutilation in Lesch-Nyhan syndrome. Case report. Rev Chil Pediatr 2018;89(1):86–90. doi: 10.4067/S0370-4106201800010008629664508
Back to article
30KumarTS, MosesPD Isolated tongue involvement-An unusual presentation of Wilson’s disease. J Postgr Med 2005;51:337.
Back to article
31BrissaudO, ThébaudN-B, GuichouxJ, SmiraniR, VillegaF, DevillardR Case report of a severe recurrent tongue self-injury in an infant with dystonia. Pediatrics 2016;138(5):e20160738. doi: 10.1542/peds.2016-0738
Back to article
32JinnahHA, NeychevV, HessEJ The anatomical basis for dystonia: the motor network model. Tremor Other Hyperkinet Mov (N Y) 2017;7:506.29123945
Back to article
33PaucarM, LindestadP-Å, WalkerRH, SvenningssonP Teaching video neuro images: feeding dystonia in chorea-acanthocytosis . Neurology 2015;85(19):e143–4. doi: 10.1212/WNL.000000000000210826553947
Back to article
34YoshidaK Botulinum neurotoxin therapy for lingual dystonia using an individualized injection method based on clinical features. Toxins (Basel) 2019;11(51):1–18. doi: 10.3390/toxins11010051
Back to article
35CharlesJ, LesseyL, RooneyJ, ProkopI, YearwoodK, Da BreoH, et al. Presentation and care of a family with Huntington disease in a resource-limited community. J Clin Mov Disord 2017;4:1–8. doi: 10.1186/s40734-017-0050-628101372
Back to article
36YearwoodAK, RethiS, FigueroaKP, WalkerRH, SoberingAK Diagnosis of spinocerebellar ataxia in the West Indies. Tremor Other Hyperkinet Mov 2018;1–5. doi: 10.7916/D8DV329C
Back to article

Childhood-Onset Spinocerebellar Ataxia 3: Tongue Dystonia as an Early Manifestation

Abstract

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