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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.
Autosomal dominant inheritance (Orphanet)
 
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.
See: Feature record | Search on this feature
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).
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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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

New roles for renal potassium channels.
Wagner CA
J Nephrol 2010 Jan-Feb;23(1):5-8. PMID: 20091480

Diagnosis

Biallelic DNAJC3 variants in a neuroendocrine developmental disorder with insulin dysregulation.
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
Autosomal dominant cerebellar ataxia, deafness, and narcolepsy (ADCA-DN) associated with progressive cognitive and behavioral deterioration.
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
Narcolepsy is a common phenotype in HSAN IE and ADCA-DN.
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
A novel de novo exon 21 DNMT1 mutation causes cerebellar ataxia, deafness, and narcolepsy in a Brazilian patient.
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
DNMT1 mutation hot spot causes varied phenotypes of HSAN1 with dementia and hearing loss.
Klein CJ, Bird T, Ertekin-Taner N, Lincoln S, Hjorth R, Wu Y, Kwok J, Mer G, Dyck PJ, Nicholson GA
Neurology 2013 Feb 26;80(9):824-8. Epub 2013 Jan 30 doi: 10.1212/WNL.0b013e318284076d. PMID: 23365052Free PMC Article

Therapy

Coenzyme Q-responsive Leigh's encephalopathy in two sisters.
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

Biallelic DNAJC3 variants in a neuroendocrine developmental disorder with insulin dysregulation.
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
Autosomal dominant cerebellar ataxia, deafness, and narcolepsy (ADCA-DN) associated with progressive cognitive and behavioral deterioration.
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
Coenzyme Q-responsive Leigh's encephalopathy in two sisters.
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
Juvenile Leigh syndrome with protracted course presenting as chronic sensory motor neuropathy, ataxia, deafness and retinitis pigmentosa: a clinicopathological report.
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
A new mitochondrial DNA mutation associated with progressive dementia and chorea: a clinical, pathological, and molecular genetic study.
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

Biallelic DNAJC3 variants in a neuroendocrine developmental disorder with insulin dysregulation.
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
Cerebellar Ataxia as a Common Clinical Presentation Associated with DNMT1 p.Y511H and a Review of the Literature.
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
Narcolepsy is a common phenotype in HSAN IE and ADCA-DN.
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
A novel de novo exon 21 DNMT1 mutation causes cerebellar ataxia, deafness, and narcolepsy in a Brazilian patient.
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
Autosomal dominant cerebellar ataxia deafness and narcolepsy.
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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