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Myoclonus-cerebellar ataxia-deafness syndrome

MedGen UID:
331780
Concept ID:
C1834579
Disease or Syndrome
Synonym: Myoclonus, cerebellar ataxia, and deafness
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Monarch Initiative: MONDO:0008043
OMIM®: 159800
Orphanet: ORPHA2589

Definition

This syndrome is characterised by the association of myoclonus, cerebellar ataxia and sensorineural hearing loss. [from ORDO]

Clinical features

From HPO
Hearing impairment
MedGen UID:
235586
Concept ID:
C1384666
Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
Cerebellar ataxia
MedGen UID:
849
Concept ID:
C0007758
Disease or Syndrome
Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
Myoclonus
MedGen UID:
10234
Concept ID:
C0027066
Finding
Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMyoclonus-cerebellar ataxia-deafness syndrome
Follow this link to review classifications for Myoclonus-cerebellar ataxia-deafness syndrome in Orphanet.

Recent clinical studies

Etiology

Wagner CA
J Nephrol 2010 Jan-Feb;23(1):5-8. PMID: 20091480

Diagnosis

Ocansey S, Pullen D, Atkinson P, Clarke A, Hadonou M, Crosby C, Short J, Lloyd IC, Smedley D, Assunta A, Shah P, McEntagart M; Genomics England Research Consortium
Clin Dysmorphol 2022 Jan 1;31(1):11-17. doi: 10.1097/MCD.0000000000000397. PMID: 34654017
Walker LA, Bourque P, Smith AM, Warman Chardon J
Neuropsychology 2017 Mar;31(3):292-303. Epub 2016 Nov 21 doi: 10.1037/neu0000322. PMID: 27869457
Moghadam KK, Pizza F, La Morgia C, Franceschini C, Tonon C, Lodi R, Barboni P, Seri M, Ferrari S, Liguori R, Donadio V, Parchi P, Cornelio F, Inzitari D, Mignarri A, Capocchi G, Dotti MT, Winkelmann J, Lin L, Mignot E, Carelli V, Plazzi G
Brain 2014 Jun;137(Pt 6):1643-55. Epub 2014 Apr 10 doi: 10.1093/brain/awu069. PMID: 24727570
Pedroso JL, Povoas Barsottini OG, Lin L, Melberg A, Oliveira AS, Mignot E
Sleep 2013 Aug 1;36(8):1257-9, 1259A. doi: 10.5665/sleep.2898. PMID: 23904686Free PMC Article
Manson JI, Pollard AC, Poulos A, Carter RF
Clin Exp Neurol 1985;21:283-7. PMID: 2436838

Therapy

Van Maldergem L, Trijbels F, DiMauro S, Sindelar PJ, Musumeci O, Janssen A, Delberghe X, Martin JJ, Gillerot Y
Ann Neurol 2002 Dec;52(6):750-4. doi: 10.1002/ana.10371. PMID: 12447928

Prognosis

Ocansey S, Pullen D, Atkinson P, Clarke A, Hadonou M, Crosby C, Short J, Lloyd IC, Smedley D, Assunta A, Shah P, McEntagart M; Genomics England Research Consortium
Clin Dysmorphol 2022 Jan 1;31(1):11-17. doi: 10.1097/MCD.0000000000000397. PMID: 34654017
Walker LA, Bourque P, Smith AM, Warman Chardon J
Neuropsychology 2017 Mar;31(3):292-303. Epub 2016 Nov 21 doi: 10.1037/neu0000322. PMID: 27869457
Van Maldergem L, Trijbels F, DiMauro S, Sindelar PJ, Musumeci O, Janssen A, Delberghe X, Martin JJ, Gillerot Y
Ann Neurol 2002 Dec;52(6):750-4. doi: 10.1002/ana.10371. PMID: 12447928
Malandrini A, Palmeri S, Fabrizi GM, Villanova M, Berti G, Salvadori C, Gardini G, Motti L, Solimé F, Guazzi GC
J Neurol Sci 1998 Mar 5;155(2):218-21. doi: 10.1016/s0022-510x(98)00014-8. PMID: 9562272
Nelson I, Hanna MG, Alsanjari N, Scaravilli F, Morgan-Hughes JA, Harding AE
Ann Neurol 1995 Mar;37(3):400-3. doi: 10.1002/ana.410370317. PMID: 7695240

Clinical prediction guides

Ocansey S, Pullen D, Atkinson P, Clarke A, Hadonou M, Crosby C, Short J, Lloyd IC, Smedley D, Assunta A, Shah P, McEntagart M; Genomics England Research Consortium
Clin Dysmorphol 2022 Jan 1;31(1):11-17. doi: 10.1097/MCD.0000000000000397. PMID: 34654017
Kikuchi JK, Nagashima Y, Mano T, Ishiura H, Hayashi T, Shimizu J, Matsukawa T, Ichikawa Y, Takahashi Y, Karino S, Kanbayashi T, Kira J, Goto J, Tsuji S
J Mol Neurosci 2021 Sep;71(9):1796-1801. Epub 2021 Jan 12 doi: 10.1007/s12031-020-01784-5. PMID: 33433851
Moghadam KK, Pizza F, La Morgia C, Franceschini C, Tonon C, Lodi R, Barboni P, Seri M, Ferrari S, Liguori R, Donadio V, Parchi P, Cornelio F, Inzitari D, Mignarri A, Capocchi G, Dotti MT, Winkelmann J, Lin L, Mignot E, Carelli V, Plazzi G
Brain 2014 Jun;137(Pt 6):1643-55. Epub 2014 Apr 10 doi: 10.1093/brain/awu069. PMID: 24727570
Alemi M, Prigione A, Wong A, Schoenfeld R, DiMauro S, Hirano M, Taroni F, Cortopassi G
Free Radic Biol Med 2007 Jan 1;42(1):32-43. Epub 2006 Sep 19 doi: 10.1016/j.freeradbiomed.2006.09.014. PMID: 17157191Free PMC Article
Melberg A, Hetta J, Dahl N, Nennesmo I, Bengtsson M, Wibom R, Grant C, Gustavson KH, Lundberg PO
J Neurol Sci 1995 Dec;134(1-2):119-29. doi: 10.1016/0022-510x(95)00228-0. PMID: 8747854

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