myoclonic cerebellar dyssynergia

Summary

Summary: A condition marked by progressive CEREBELLAR ATAXIA combined with MYOCLONUS usually presenting in the third decade of life or later. Additional clinical features may include generalized and focal SEIZURES, spasticity, and DYSKINESIAS. Autosomal recessive and autosomal dominant patterns of inheritance have been reported. Pathologically, the dentate nucleus and brachium conjunctivum of the CEREBELLUM are atrophic, with variable involvement of the spinal cord, cerebellar cortex, and basal ganglia. (From Joynt, Clinical Neurology, 1991, Ch37, pp60-1)

Top Publications

  1. Zhu S, Pyatkevich Y. Ramsay Hunt syndrome type II. Neurology. 2014;82:1664 pubmed publisher
    ..1) The patient received IV acyclovir and oral prednisone with rapid improvement in pain and resolution of lesions and improvement of hearing over 1 month. ..
  2. Bomont P, Watanabe M, Gershoni Barush R, Shizuka M, Tanaka M, Sugano J, et al. Homozygosity mapping of spinocerebellar ataxia with cerebellar atrophy and peripheral neuropathy to 9q33-34, and with hearing impairment and optic atrophy to 6p21-23. Eur J Hum Genet. 2000;8:986-90 pubmed
    ..25. These two localisations of autosomal recessive ataxia genes represent a first step toward the identification of genetically homogenous, non-Friedreich, ataxic patients and subsequent cloning of the genes...
  3. Gambelli S, Dotti M, Malandrini A, Berti G, Serni G, Federico A. Inclusion body myopathy-like changes in a family with cerebellar atrophy, mental retardation and abnormal pupils. Eur Neurol. 2006;56:172-4 pubmed
  4. Pereira F, Guskuma M, Luvizuto E, Faco E, Magro Filho O, Hochuli Vieira E. Unilateral facial paralysis caused by Ramsay Hunt syndrome. J Craniofac Surg. 2011;22:1961-3 pubmed publisher
    ..After 30 days after presentation, the patient did not show any signs or symptoms of the syndrome. At follow-up at 1 year, she showed no relapse of the syndrome...
  5. Sacquegna T, Montagna P, Moggio M, de Carolis P, Agati R, Bresolin N. Normal muscle mitochondrial function in Ramsay-Hunt syndrome. Ital J Neurol Sci. 1989;10:73-5 pubmed
    ..Histochemical and ultrastructural studies of muscle biopsies and biochemical analysis of muscle mitochondrial enzymes were normal. There is no evidence for a disturbance of muscle mitochondrial function in RHS...
  6. Ramos Macias A, Gómez González J, de Miguel Martínez M, López Alburquerque T, Lavilla Martín M, Ruiz Martín F. [Ramsay Hunt syndrome. Effects of the treatment with acyclovir (preliminary study)]. Acta Otorrinolaringol Esp. 1990;41:387-91 pubmed
    ..The other patients, 1 have achieved grade I, 2 patients grade II, 2 patients grade III and 1 patient grade V. The differences and final results are discussed...
  7. Bontozoglou N, Chakeres D, Martin G, Brogan M, McGhee R. Cerebellorubral degeneration after resection of cerebellar dentate nucleus neoplasms: evaluation with MR imaging. Radiology. 1991;180:223-8 pubmed
    ..Injury of the dentate nucleus may result in degeneration of distant neural connections...
  8. Franceschetti S, Antozzi C, Binelli S, Carrara F, Nardocci N, Zeviani M, et al. Progressive myoclonus epilepsies: an electroclinical, biochemical, morphological and molecular genetic study of 17 cases. Acta Neurol Scand. 1993;87:219-23 pubmed
    ..Molecular genetical investigation of mtDNA demonstrated the reported heteroplasmic point mutation at nt 8344 of mtDNA in the two MERRF patients, while it was negative in all of the others...
  9. Kaczmarek I, Schmauss D, Sodian R, Beiras Fernandez A, Oberhoffer M, Daebritz S, et al. Late-onset tacrolimus-associated cerebellar atrophia in a heart transplant recipient. J Heart Lung Transplant. 2007;26:89-92 pubmed
    ..His neurologic constitution ameliorated after an immunosuppressant switch from tacrolimus to sirolimus...

More Information

Publications60

  1. Mizukoshi K, Watanabe Y, Aso S, Asai M. Prognostic value of blink test in patients with facial paralysis. Acta Otolaryngol Suppl. 1988;446:70-5 pubmed
    ..The blink test does not require needle electrodes for electrical stimulus, nor any special equipment other than electronystagmography, and yet this test can provide a quantitative analysis of a degeneration profile in facial paralysis...
  2. Aoyagi M, Koike Y, Ichige A. Results of facial nerve decompression. Acta Otolaryngol Suppl. 1988;446:101-5 pubmed
    ..No significant difference in the incidence of sequelae was observed between surgically and conservatively treated groups. In Hunt's syndrome, the prognosis for the surgical group was poorer than that of the conservatively treated group...
  3. Wiest G, Mueller C, Wessely P, Steinhoff N, Trattnig S, Deecke L. Oculomotor abnormalities in Dyssynergia cerebellaris myoclonica. Acta Otolaryngol Suppl. 1995;520 Pt 2:392-4 pubmed
    ..In addition, smooth pursuit eye-movements were abnormal and presented reduced gain. These findings suggest that pontine areas and the vestibulocerebellum also seem to be affected in DCM...
  4. Hori T, Mizukami K, Suzuki T, Sakuma K, Baba A, Tanaka Y, et al. Ramsay Hunt syndrome with mental disorder. Jpn J Psychiatry Neurol. 1991;45:873-7 pubmed
    ..The possibility of Ramsay Hunt syndrome to accompany organic mental syndromes and the relationship between cerebellar dysfunction and psychiatric symptoms are discussed...
  5. Baig S. Acetazolamide therapy improves action myoclonus in Ramsay Hunt Syndrome. J Neurol Sci. 1997;145:123-4 pubmed
    ..A family with two brothers and a sister, and a sporadic case with Ramsay Hunt Syndrome and uncontrollable action myoclonus, are described where addition of oral acetazolamide lead to marked improvement in their action myoclonus...
  6. Nakane S, Honda H, Hamasaki S, Shirabe S, Nakamura T. [A case of herpes zoster encephalitis with Ramsay-Hunt syndrome, herpes zoster generalisatus and acute pancreatitis]. No To Shinkei. 2000;52:43-7 pubmed
    ..We discussed the pathogenic mechanisms of these conditions, and this case was considered to have VZV encephalitis, and to be associated with right facial nerve palsy and pancreatitis, in spite of the absence of immunological deficiency...
  7. Ali F, Rowley M, Jayakrishnan B, Teuber S, Gershwin M, Mackay I. Stiff-person syndrome (SPS) and anti-GAD-related CNS degenerations: protean additions to the autoimmune central neuropathies. J Autoimmun. 2011;37:79-87 pubmed publisher
    ..Closer study of the mysterious stiff-person syndrome should enhance the understanding of this disease itself, and autoimmunity in general...
  8. Goodkin H, Keating J, Martin T, Thach W. Preserved simple and impaired compound movement after infarction in the territory of the superior cerebellar artery. Can J Neurol Sci. 1993;20 Suppl 3:S93-104 pubmed
    ..When that ability is lost, a strategy may be voluntarily adopted of using the preserved simple movements in place of the impaired compound movements...
  9. Kobayashi K, Morikawa K, Fukutani Y, Miyazu K, Nakamura I, Yamaguchi N, et al. Ramsay Hunt syndrome: progressive mental deterioration in association with unusual cerebral white matter change. Clin Neuropathol. 1994;13:88-96 pubmed
    ..The cerebral white matter change is an unusual finding and the present case might be a variant in Ramsay Hunt syndrome...
  10. Chinnery P, Reading P, Milne D, Gardner Medwin D, Turnbull D. CSF antigliadin antibodies and the Ramsay Hunt syndrome. Neurology. 1997;49:1131-3 pubmed
    ..Celiac disease should be considered in the differential diagnosis of myoclonic ataxia at any age, even in the absence of clinical evidence of gluten-sensitive enteropathy...
  11. Lu C, Thompson P, Quinn N, Parkes J, Marsden C. Ramsay Hunt syndrome and coeliac disease: a new association?. Mov Disord. 1986;1:209-19 pubmed
    ..Patients with the Ramsay Hunt syndrome should be investigated for malabsorption, and also undergo small intestinal biopsy...
  12. Suzuki S, Kamoshita S, Ninomura S. Ramsay Hunt syndrome in dentatorubral-pallidoluysian atrophy. Pediatr Neurol. 1985;1:298-301 pubmed
    ..Major necropsy findings were dentatorubral-pallidoluysian atrophy. Dentatorubral-pallidoluysian atrophy may be associated with a variety of clinical symptoms, amongst which Ramsay Hunt syndrome can be included...
  13. Pearce J. Some syndromes of James Ramsay Hunt. Pract Neurol. 2007;7:182-5 pubmed
  14. Borg M. Symptomatic myoclonus. Neurophysiol Clin. 2006;36:309-18 pubmed
    ..Segmental spinal myoclonus or propriospinal myoclonus may be associated with several spinal-cord disorders. Myoclonus associated with peripheral nerve lesions is exceptional or even questionable for some of these...
  15. Aygun C, Tanyeri B, Ceyhan M, Bagci H, Kucukoduk S. Diffuse multicystic encephalomalacia in a preterm baby due to homozygous methylenetetrahydrofolate reductase 677 C-->T mutation. J Child Neurol. 2008;23:695-8 pubmed publisher
    ..Here, we report a premature baby with prenatal onset diffuse multicystic encephalomalacia and cerebellar atrophy due to homozygous methylenetetrahydrofolate reductase mutation...
  16. Uesaka Y. [MRI of the Ramsey Hunt syndrome: case report]. No To Shinkei. 2002;54:63 pubmed
  17. Cilia R, Righini A, Marotta G, Benti R, Marconi R, Isaias I, et al. Clinical and imaging characterization of a patient with idiopathic progressive ataxia and palatal tremor. Eur J Neurol. 2007;14:944-6 pubmed
    ..Our findings suggest that in idiopathic PAPT involvement of the dentato-rubro-olivary pathway occurs along with some dopaminergic dysfunction...
  18. Sułek Piatkowska A, Krysa W, Zdzienicka E, Szirkowiec W, Hoffman Zacharska D, Rajkiewicz M, et al. Searching for mutation in the JPH3, ATN1 and TBP genes in Polish patients suspected of Huntington's disease and without mutation in the IT15 gene. Neurol Neurochir Pol. 2008;42:203-9 pubmed
  19. Cerasa A, Messina D, Nicoletti G, Novellino F, Lanza P, Condino F, et al. Cerebellar atrophy in essential tremor using an automated segmentation method. AJNR Am J Neuroradiol. 2009;30:1240-3 pubmed publisher
    ..The aim of this study was to determine the efficacy and utility of using automated subcortical segmentation to identify atrophy of the cerebellum and other subcortical structures in patients with ET...
  20. Genton P, Michelucci R, Tassinari C, Roger J. The Ramsay Hunt syndrome revisited: Mediterranean myoclonus versus mitochondrial encephalomyopathy with ragged-red fibers and Baltic myoclonus. Acta Neurol Scand. 1990;81:8-15 pubmed
    ..The authors propose that this form of PME, formerly reported as RHS, be more properly described as Mediterranean myoclonus...
  21. Kunesch E, Becker W, Freund H. Myoclonus and sensorimotor integration in a patient with Ramsay Hunt syndrome. Electroencephalogr Clin Neurophysiol. 1991;81:337-43 pubmed
  22. Naik S, Pohl K, Malik M, Siddiqui A, Josifova D. Early-onset cerebellar atrophy associated with mutation in the CACNA1A gene. Pediatr Neurol. 2011;45:328-30 pubmed publisher
    ..Therefore, CACNA1A gene mutations should be considered in the differential diagnosis of congenital cerebellar atrophy...
  23. Vaamonde J, Legarda I, Jimenez Jimenez J, Obeso J. Acetazolamide improves action myoclonus in Ramsay Hunt syndrome. Clin Neuropharmacol. 1992;15:392-6 pubmed
    ..The mechanism of action of acetazolamide in myoclonus is unknown. Acetazolamide may be an additional therapeutic possibility for patients with severe action myoclonus...
  24. Guazzi G, Federico A. Progressive myoclonus epilepsies. Criteria for diagnosis on the basis of the follow-up of 37 cases. Acta Neurol (Napoli). 1992;14:469-84 pubmed
    ..The autonomy of Ramsay Hunt syndrome is discussed on the light of recent molecular genetic data...
  25. Hu S, Walker M, Czartoski T, Cheng A, Forghani B, Gilden D, et al. Acyclovir responsive brain stem disease after the Ramsay Hunt syndrome. J Neurol Sci. 2004;217:111-3 pubmed
    ..This case demonstrates that after geniculate zoster, brainstem disease may develop even in an immunocompetent individual and effective antiviral therapy can be curative...
  26. Boemo R, Navarrete M, García Arumí A, Copa S, Graterol D, Scherdel E. [Ramsay Hunt syndrome: our experience]. Acta Otorrinolaringol Esp. 2010;61:418-21 pubmed publisher
    ..Ramsay Hunt syndrome (RHS) is a disease caused by the Varicella Zoster virus and characterised by skin rash, peripheral facial palsy and otologic symptoms...
  27. Li S, Chen T, Dong H, Lin P, Wen C, Cheng Y, et al. [Frequency characteristics of the semicircular canals lesion in Hunt syndrome with vertigo]. Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2012;47:6-10 pubmed
    ..To research the frequency characteristics of the semicircular canals lesion in Hunt syndrome with vertigo and the clinical value of the video head impulse test (vHIT) for vestibular function evaluated in this disease...
  28. Shakir R, Khan R, al Zuhair A. Progressive myoclonic ataxia without ragged red fibres: Unverricht-Lundborg disease vs Ramsay Hunt syndrome. Acta Neurol Scand. 1992;86:470-3 pubmed
    ..Moreover, this report reinforces the existence of this syndrome outside Scandinavia...
  29. Toscano A, Fazio M, Vita G, Cannavo S, Bresolin N, Bet L, et al. Early-onset cerebellar ataxia, myoclonus and hypogonadism in a case of mitochondrial complex III deficiency treated with vitamins K3 and C. J Neurol. 1995;242:203-9 pubmed
    ..In this patient, the endocrinological disorder is putatively due to a mitochondrial cytopathy. Although an unknown mtDNA mutation cannot be ruled out, the genetic defect may lie in the nuclear genome...
  30. Marsden C, Harding A, Obeso J, Lu C. Progressive myoclonic ataxia (the Ramsay Hunt syndrome). Arch Neurol. 1990;47:1121-5 pubmed
    ..These two syndromes share common causes, but a smaller proportion of patients with progressive myoclonic ataxia can currently be diagnosed precisely during life...
  31. Le Marec N, Ase A, Botez Marquard T, Marchand L, Reader T, Lalonde R. Behavioral and biochemical effects of L-tryptophan and buspirone in a model of cerebellar atrophy. Pharmacol Biochem Behav. 2001;69:333-42 pubmed
    ..The modest test-specific improvements are consistent with some of the clinical data concerning 5-HT pharmacotherapy in patients suffering from cerebellar atrophy...
  32. Yagi T, Yamaguchi J, Nonaka M. Neurotological findings in Bell's palsy and Hunt's syndrome. Acta Otolaryngol Suppl. 1988;446:97-100 pubmed
    ..Differentiating these two diseases is therefore considered difficult by means of neurotological examination in the same way as by serological testing as has been reported by other investigators...
  33. Bayreuther C, Hieronimus S, Ferrari P, Thomas P, Lebrun C. Auto-immune cerebellar ataxia with anti-GAD antibodies accompanied by de novo late-onset type 1 diabetes mellitus. Diabetes Metab. 2008;34:386-8 pubmed publisher
    ..In addition, a few patients with progressive cerebellar ataxia show high titres of GAD-Ab, suggesting an auto-immune origin...
  34. Sabre L, Braschinsky M, Taba P. Neurosyphilis as a great imitator: a case report. BMC Res Notes. 2016;9:372 pubmed publisher
    ..Since syphilis is easily diagnosed and treatable, it should be considered and tested in patients with cognitive impairment and movement disorders. ..
  35. Filla A, De Michele G, Barbieri F, Campanella G. Early onset hereditary ataxias of unknown etiology. Review of a personal series. Acta Neurol (Napoli). 1992;14:420-30 pubmed
    ..Only Friedreich's disease appears clinically homogeneous, whereas the others are not specific entities and each of them probably includes different diseases...
  36. Diener H, Dichgans J. Pathophysiology of cerebellar ataxia. Mov Disord. 1992;7:95-109 pubmed
    ..The common assumption that cerebellar ataxia of stance does not improve with visual feedback is true only of vestibulocerebellar lesions, not for ataxia resulting from atrophy of the anterior lobe of the cerebellum...
  37. Lu C, Chu N. Effects of alcohol on myoclonus and somatosensory evoked potentials in dyssynergia cerebellaris myoclonica. J Neurol Neurosurg Psychiatry. 1991;54:905-8 pubmed
    ..The peak latencies of those components were not affected by alcohol. There was thus a good correlation between the suppression of myoclonus and the decrease in giant SEP amplitude...
  38. Esfahani D, Pisansky M, Dafer R, Anderson D. Motor cortex stimulation: functional magnetic resonance imaging-localized treatment for three sources of intractable facial pain. J Neurosurg. 2011;114:189-95 pubmed publisher
    ..The authors' results affirm the efficacy and broaden the application of motor cortex stimulation to several forms of intractable facial pain...
  39. Godlewski A, Szczech J. [Equilibrium disorders and ataxia as dominating symptoms in a case of Alzheimer's disease]. Neurol Neurochir Pol. 1988;22:255-9 pubmed
    ..A case of a 66-year-old female woman with Alzheimer's disease (confirmed histologically) is reported. In the case cerebellar symptoms predominated without evidence of dementia. The patient died after duodenal haemorrhage...
  40. Gupta J, Hutchins T, Palacios E. Ramsay Hunt syndrome, type I. Ear Nose Throat J. 2007;86:138, 140 pubmed
  41. Moschner C, Zangemeister W, Demer J. Anticipatory smooth eye movements of high velocity triggered by large target steps: normal performance and effect of cerebellar degeneration. Vision Res. 1996;36:1341-8 pubmed
    ..However, fast ASEM depend on the intact function of the cerebellum which gives further evidence of their generation by the smooth pursuit oculomotor subsystem...
  42. Filla A, Mariotti C, Caruso G, Coppola G, Cocozza S, Castaldo I, et al. Relative frequencies of CAG expansions in spinocerebellar ataxia and dentatorubropallidoluysian atrophy in 116 Italian families. Eur Neurol. 2000;44:31-6 pubmed
    ..The number of CAG repeats in SCA1 normal alleles was higher in Northern than in Central-Southern Italy...
  43. Yazawa I, Nukina N, Hashida H, Goto J, Yamada M, Kanazawa I. Abnormal gene product identified in hereditary dentatorubral-pallidoluysian atrophy (DRPLA) brain. Nat Genet. 1995;10:99-103 pubmed
  44. Komure O, Sano A, Nishino N, Yamauchi N, Ueno S, Kondoh K, et al. DNA analysis in hereditary dentatorubral-pallidoluysian atrophy: correlation between CAG repeat length and phenotypic variation and the molecular basis of anticipation. Neurology. 1995;45:143-9 pubmed
    ..The expansion of CAG repeats is important in phenotypic variation and anticipation. In addition, the sex of the transmitting parent has a significant effect on the molecular mechanism of anticipation...
  45. Korzec K, Sobol S, Kubal W, Mester S, Winzelberg G, May M. Gadolinium-enhanced magnetic resonance imaging of the facial nerve in herpes zoster oticus and Bell's palsy: clinical implications. Am J Otol. 1991;12:163-8 pubmed
    ..Nevertheless, gadolinium-enhanced MRI does have a place in the evaluation and decisions for management of select cases of facial paralysis...
  46. Isono M, Tanaka H, Murata K, Azuma H. [Quantitative analyses for facial nerve MR imaging]. Nihon Jibiinkoka Gakkai Kaiho. 1994;97:1229-34 pubmed
  47. Ruiz Gomez A, Couce M, Garcia Villoria J, Torres A, Baña Souto A, Yague J, et al. Clinical, genetic, and therapeutic diversity in 2 patients with severe mevalonate kinase deficiency. Pediatrics. 2012;129:e535-9 pubmed publisher
    ..This atypical presentation of MA suggests that it should be included in the differential diagnosis of unclassified patients with psychomotor retardation, failure to thrive or ataxia, even in the absence of febrile episodes...
  48. Louis E, Williams M. A biography of James Ramsay Hunt (1874-1937). J Hist Neurosci. 2003;12:266-75 pubmed
  49. Kolb F, Lachauer S, Diener H, Timmann D. Changes in conditioned postural responses. Comparison between cerebellar patients and healthy subjects. Acta Physiol Pharmacol Bulg. 2001;26:143-6 pubmed
    ..Our data suggest that the prior auditory information is used to prepare postural responses. Deficits in cerebellar patients suggest a possible role of the cerebellum in controlling this plastic motor-related process...
  50. Tassinari C, Michelucci R, Genton P, Pellissier J, Roger J. Dyssynergia cerebellaris myoclonica (Ramsay Hunt syndrome): a condition unrelated to mitochondrial encephalomyopathies. J Neurol Neurosurg Psychiatry. 1989;52:262-5 pubmed
    ..These findings suggest that Ramsay Hunt syndrome is a condition with distinctive clinical and neurophysiological features and unrelated to mitochondrial encephalomyopathies...
  51. Yamashiro H, Ogata R, Gotoh Y. [Early stellate ganglion block failed to prevent progress of facial nerve palsy in a patient with Ramsay-Hunt syndrome--a case report]. Masui. 1991;40:500-5 pubmed
    ..The discrepancy is probably because facial palsy score reflects also neurapraxia of inflammatory nerve, and stellate ganglion block has no effect on changing course of facial nerve injury...