Vol 54, No 1 (2020)
Research Paper
Published online: 2020-01-20

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Clinical phenotype heterogeneity in a family with ε-sarcoglycan gene mutation

Justyna Kaczyńska1, Zygmunt Jamrozik1, Michał Szubiga2, Monika Rudzińska-Bar3, Piotr Janik1
Pubmed: 31956970
Neurol Neurochir Pol 2020;54(1):33-38.


Aim of the study. This paper describes six cases of patients with myoclonus-dystonia syndrome who are members of a family in which an SGCE gene mutation has been confirmed.

Clinical rationale for the study. Myoclonus-dystonia syndrome is a very rare disease, with an incidence in Europe of about 2 in every million. Due to the fact that only a few case reports of this illness are accessible in the literature, the material we collected seems to be valuable for clinical practice.

Materials and methods. A history was taken, and physical and genetic examinations of the patients were performed. Furthermore, the clinical examination of three patients was video-recorded.

Results. The clinical picture of the disease varied significantly between the described individuals, from a healthy carrier of the SGCE mutation to patients presenting mild to moderate symptoms. The differences concerned the age at onset of the disease, the initial symptoms, the intensity of involuntary movements, and the predominant symptoms. In addition to the typical movement disorders which are myoclonus and dystonia, in the described family there was also the coexistence of epilepsy, obsessive-compulsive behaviour, dyslexia, dysgraphia, non-harmonious development of cognitive processes, as well as mild
phenotypic features of muscular dystrophy. The mutation (NM_001099401.2:c.806-809delACTG) found in the presented family has not been described elsewhere.

Conclusions and clinical implications. Our description of six cases of patients demonstrates the heterogeneity of the natural course of the disease, even in patients with the same mutation. It seems reasonable to regularly examine relatives of patients with myoclonus-dystonia syndrome, who should be observed for involuntary movements as well as non-motor symptoms.

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  1. Asmus F, Zimprich A, Tezenas Du Montcel S, et al. Myoclonus-dystonia syndrome: epsilon-sarcoglycan mutations and phenotype. Ann Neurol. 2002; 52(4): 489–492.
  2. Rachad L, El Kadmiri N, Slassi I, et al. Genetic Aspects of Myoclonus-Dystonia Syndrome (MDS). Mol Neurobiol. 2017; 54(2): 939–942.
  3. Szubiga M, Rudzińska M, Bik-Multanowski M, et al. A novel conserved mutation in SGCE gene in 3 unrelated patients with classical phenotype myoclonus-dystonia syndrome. Neurol Res. 2013; 35(6): 659–662.
  4. Charlesworth G, Bhatia KP, Wood NW. The genetics of dystonia: new twists in an old tale. Brain. 2013; 136(Pt 7): 2017–2037.
  5. Asmus F, Devlin A, Munz M, et al. Clinical differentiation of genetically proven benign hereditary chorea and myoclonus-dystonia. Mov Disord. 2007; 22(14): 2104–2109.
  6. Kinugawa K, Vidailhet M, Clot F, et al. Myoclonus-dystonia: an update. Mov Disord. 2009; 24(4): 479–489.
  7. Asmus F, Gasser T. Dystonia-plus syndromes. Eur J Neurol. 2010; 17 Suppl 1: 37–45.
  8. Bressman SB. Genetics of dystonia: an overview. Parkinsonism Relat Disord. 2007; 13 Suppl 3: S347–S355.
  9. Thümmler S, Giuliano F, Pincemaille O, et al. Myoclonus in fraternal twin toddlers: a French family with a novel mutation in the SGCE gene. Eur J Paediatr Neurol. 2009; 13(6): 559–561.
  10. Raymond D, Ozelius L. Myoclonus-Dystonia. 2003 May 21 [Updated 2012 Jan 26]. In: Adam MP, Ardinger HH, Pagon RA, et al., ed. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2019. https://www-1ncbi-1nlm-1nih-1gov-100001aq53486.han3.wum.edu.pl/books/NBK1414/.
  11. Roze E, Apartis E, Clot F, et al. Myoclonus-dystonia: clinical and electrophysiologic pattern related to SGCE mutations. Neurology. 2008; 70(13): 1010–1016.
  12. Foncke EMJ, Gerrits MCF, van Ruissen F, et al. Distal myoclonus and late onset in a large Dutch family with myoclonus-dystonia. Neurology. 2006; 67(9): 1677–1680.
  13. Raymond D, Saunders-Pullman R, de Carvalho Aguiar P, et al. Phenotypic spectrum and sex effects in eleven myoclonus-dystonia families with epsilon-sarcoglycan mutations. Mov Disord. 2008; 23(4): 588–592.
  14. Foncke EMJ, Klein C, Koelman JH, et al. Hereditary myoclonus-dystonia associated with epilepsy. Neurology. 2003; 60(12): 1988–1990.
  15. Coughlin DG, Bardakjian TM, Spindler M, et al. Hereditary Myoclonus Dystonia: A Novel Variant and Phenotype Including Intellectual Disability. Tremor Other Hyperkinet Mov (N Y). 2018; 8: 547.
  16. Nigro V, Savarese M. Genetic basis of limb-girdle muscular dystrophies: the 2014 update. Acta Myol. 2014; 33(1): 1–12.

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