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Ataxia, deafness, and cardiomyopathy

MedGen UID:
395312
•Concept ID:
C1859645
•
Disease or Syndrome
Synonym: Ataxia, Deafness, and Cardiomyopathy
 
Monarch Initiative: MONDO:0008837
OMIM®: 208750

Clinical features

From HPO
Cardiomyopathy
MedGen UID:
209232
•Concept ID:
C0878544
•
Disease or Syndrome
A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality.
See: Feature record | Search on this feature
Sensorineural hearing loss disorder
MedGen UID:
9164
•Concept ID:
C0018784
•
Disease or Syndrome
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
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
Intellectual disability
MedGen UID:
811461
•Concept ID:
C3714756
•
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
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Abnormality of the skin
MedGen UID:
11449
•Concept ID:
C0037268
•
Congenital Abnormality
An abnormality of the skin.
See: Feature record | Search on this feature
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Recent clinical studies

Etiology

Biallelic mutations in RNF220 cause laminopathies featuring leukodystrophy, ataxia and deafness.
Sferra A, Fortugno P, Motta M, Aiello C, Petrini S, Ciolfi A, Cipressa F, Moroni I, Leuzzi V, Pieroni L, Marini F, Boespflug Tanguy O, Eymard-Pierre E, Danti FR, Compagnucci C, Zambruno G, Brusco A, Santorelli FM, Chiapparini L, Francalanci P, Loizzo AL, Tartaglia M, Cestra G, Bertini E
Brain 2021 Nov 29;144(10):3020-3035. doi: 10.1093/brain/awab185. PMID: 33964137
Neurological complications of cardiomyopathies.
Fonseca AC, Almeida AG, Santos MO, Ferro JM
Handb Clin Neurol 2021;177:91-109. doi: 10.1016/B978-0-12-819814-8.00001-9. PMID: 33632460
Mitochondrial dysfunction in neurodegenerative disorders.
Schapira AH
Biochim Biophys Acta 1998 Aug 10;1366(1-2):225-33. doi: 10.1016/s0005-2728(98)00115-7. PMID: 9714816
Maternal inheritance and the evaluation of oxidative phosphorylation diseases.
Shoffner JM
Lancet 1996 Nov 9;348(9037):1283-8. doi: 10.1016/S0140-6736(96)09138-6. PMID: 8909383
Friedreich's ataxia: a clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features.
Harding AE
Brain 1981 Sep;104(3):589-620. doi: 10.1093/brain/104.3.589. PMID: 7272714

Diagnosis

Biallelic mutations in RNF220 cause laminopathies featuring leukodystrophy, ataxia and deafness.
Sferra A, Fortugno P, Motta M, Aiello C, Petrini S, Ciolfi A, Cipressa F, Moroni I, Leuzzi V, Pieroni L, Marini F, Boespflug Tanguy O, Eymard-Pierre E, Danti FR, Compagnucci C, Zambruno G, Brusco A, Santorelli FM, Chiapparini L, Francalanci P, Loizzo AL, Tartaglia M, Cestra G, Bertini E
Brain 2021 Nov 29;144(10):3020-3035. doi: 10.1093/brain/awab185. PMID: 33964137
Neurological complications of cardiomyopathies.
Fonseca AC, Almeida AG, Santos MO, Ferro JM
Handb Clin Neurol 2021;177:91-109. doi: 10.1016/B978-0-12-819814-8.00001-9. PMID: 33632460
Mitochondriopathies.
Finsterer J
Eur J Neurol 2004 Mar;11(3):163-86. doi: 10.1046/j.1351-5101.2003.00728.x. PMID: 15009163
Maternal inheritance and the evaluation of oxidative phosphorylation diseases.
Shoffner JM
Lancet 1996 Nov 9;348(9037):1283-8. doi: 10.1016/S0140-6736(96)09138-6. PMID: 8909383
Genetic and family studies in Friedreich's ataxia.
Andermann E, Remillard GM, Goyer C, Blitzer L, Andermann F, Barbeau A
Can J Neurol Sci 1976 Nov;3(4):287-301. doi: 10.1017/s0317167100025476. PMID: 1000412

Therapy

Diffuse mesangial sclerosis in a PDSS2 mutation-induced coenzyme Q10 deficiency.
Iványi B, Rácz GZ, Gál P, Brinyiczki K, Bódi I, Kalmár T, Maróti Z, Bereczki C
Pediatr Nephrol 2018 Mar;33(3):439-446. Epub 2017 Oct 14 doi: 10.1007/s00467-017-3814-1. PMID: 29032433
Superficial siderosis of the central nervous system: a rare cause of dementia with therapeutic consequences.
Dubessy AL, Ursu R, Maillet D, Augier A, Le Guilloux J, Carpentier AF, Belin C
Age Ageing 2012 Mar;41(2):275-7. Epub 2012 Jan 29 doi: 10.1093/ageing/afr177. PMID: 22291165

Prognosis

Neurological complications of cardiomyopathies.
Fonseca AC, Almeida AG, Santos MO, Ferro JM
Handb Clin Neurol 2021;177:91-109. doi: 10.1016/B978-0-12-819814-8.00001-9. PMID: 33632460
Diffuse mesangial sclerosis in a PDSS2 mutation-induced coenzyme Q10 deficiency.
Iványi B, Rácz GZ, Gál P, Brinyiczki K, Bódi I, Kalmár T, Maróti Z, Bereczki C
Pediatr Nephrol 2018 Mar;33(3):439-446. Epub 2017 Oct 14 doi: 10.1007/s00467-017-3814-1. PMID: 29032433
High prevalence of impaired glucose homeostasis and myopathy in asymptomatic and oligosymptomatic 3243A>G mitochondrial DNA mutation-positive subjects.
Frederiksen AL, Jeppesen TD, Vissing J, Schwartz M, Kyvik KO, Schmitz O, Poulsen PL, Andersen PH
J Clin Endocrinol Metab 2009 Aug;94(8):2872-9. Epub 2009 May 26 doi: 10.1210/jc.2009-0235. PMID: 19470628
Mitochondriopathies.
Finsterer J
Eur J Neurol 2004 Mar;11(3):163-86. doi: 10.1046/j.1351-5101.2003.00728.x. PMID: 15009163
Mitochondrial DNA disorders.
Naviaux RK
Eur J Pediatr 2000 Dec;159 Suppl 3:S219-26. doi: 10.1007/pl00014407. PMID: 11216904

Clinical prediction guides

Biallelic mutations in RNF220 cause laminopathies featuring leukodystrophy, ataxia and deafness.
Sferra A, Fortugno P, Motta M, Aiello C, Petrini S, Ciolfi A, Cipressa F, Moroni I, Leuzzi V, Pieroni L, Marini F, Boespflug Tanguy O, Eymard-Pierre E, Danti FR, Compagnucci C, Zambruno G, Brusco A, Santorelli FM, Chiapparini L, Francalanci P, Loizzo AL, Tartaglia M, Cestra G, Bertini E
Brain 2021 Nov 29;144(10):3020-3035. doi: 10.1093/brain/awab185. PMID: 33964137
High prevalence of impaired glucose homeostasis and myopathy in asymptomatic and oligosymptomatic 3243A>G mitochondrial DNA mutation-positive subjects.
Frederiksen AL, Jeppesen TD, Vissing J, Schwartz M, Kyvik KO, Schmitz O, Poulsen PL, Andersen PH
J Clin Endocrinol Metab 2009 Aug;94(8):2872-9. Epub 2009 May 26 doi: 10.1210/jc.2009-0235. PMID: 19470628
Mitochondrial DNA G8363A mutation in the tRNA Lys gene: clinical, biochemical and pathological study.
Virgilio R, Ronchi D, Bordoni A, Fassone E, Bonato S, Donadoni C, Torgano G, Moggio M, Corti S, Bresolin N, Comi GP
J Neurol Sci 2009 Jun 15;281(1-2):85-92. Epub 2009 Mar 10 doi: 10.1016/j.jns.2009.01.025. PMID: 19278689
Mitochondrial DNA deletions inhibit proteasomal activity and stimulate an autophagic transcript.
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
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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