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Lethal Ataxia with Deafness and Optic Atrophy



  • The male index subject presented with an overlap of CMTX5 and Arts syndrome features, whereas his sister presented with prelingual DFN2. Both showed mild parietal and cerebellar atrophy on MRI.[ncbi.nlm.nih.gov]
  • Results The male index subject presented with an overlap of CMTX5 and Arts syndrome features, whereas his sister presented with prelingual DFN2. Both showed mild parietal and cerebellar atrophy on MRI.[doi.org]
  • The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
  • Males with Arts syndrome do not reproduce.Charcot-Marie-Tooth disease-5, Arts syndrome and X-linked nonsyndromic sensorineural deafness present three clinically distinct but genetically allelic disorders, caused by reduced phosphoribosylpyrophosphate[en.wikipedia.org]
Recurrent Infection
  • Arts syndrome should be included in the differential diagnosis of infantile hypotonia and weakness aggravated by recurrent infection with a family history of X-linked inheritance.[ncbi.nlm.nih.gov]
  • infections - Intellectual deficit / mental / psychomotor retardation / learning disability - Nerve conduction abnormality - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Peripheral neuropathy - Sensorineural deafness / hearing loss -[csbg.cnb.csic.es]
  • However, recurrent infections are a prominent feature of patients with Arts syndrome, which is caused by PRPS1 loss‐of‐function mutations, indicating that the patient reported here has an intermediate phenotype.[doi.org]
  • Boys with Arts syndrome also usually have recurrent infections, especially involving the respiratory system. Because of these infections and their complications, affected boys often do not survive past early childhood.[ghr.nlm.nih.gov]
Increased Susceptibility to Infections
  • susceptibility to infections / recurrent infections - Intellectual deficit / mental / psychomotor retardation / learning disability - Nerve conduction abnormality - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Peripheral neuropathy[csbg.cnb.csic.es]
  • Levels of uric acid in blood were normal in all these four affected males, and none of them presented with increased susceptibility to infections.[doi.org]
Death in Infancy
  • […] neonatal/infancy Average age of death: before age 5 Type of inheritance: x-linked recessive External references: 1 OMIM reference - No MeSH references Very frequent - Areflexia / hyporeflexia - Ataxia / incoordination / trouble of the equilibrium - Death[csbg.cnb.csic.es]
Chronic Fatigue Syndrome
  • Clinically proven mtDNA mutations are not common in those with chronic fatigue syndrome. BMC Medical Genetics 2017, 18, 29. Sommerville EW, Alston CL, Pyle A, He L, Falkous G, Naismith K, Chinnery PF, McFarland R, Taylor RW.[ncl.ac.uk]
Hearing Impairment
  • Carrier females can show late-onset (age 20 years) hearing impairment and other findings. Diagnosis/testing.[ncbi.nlm.nih.gov]
  • Disease definition Lethal ataxia with deafness and optic atrophy (also known as Arts syndrome) is characterized by intellectual deficit, early-onset hypotonia, ataxia, delayed motor development, hearing impairment and loss of vision due to optic atrophy[orpha.net]
  • […] vision Lethal ataxia with deafness and optic atrophy MRXS18 MRXSARTS syndromic X-linked mental retardation 18 syndromic X-linked mental retardation Arts type Definition: An X-linked disease that is characterized by profound congenital sensorineural hearing[zfin.org]
  • The transmission of impulses at the autonomic ganglia may be blocked by the actions of anticonvulsants, antidepressants, or sedatives. A drop in blood pressure on standing up is the most common symptom of blocked impulses at the autonomic ganglia.[britannica.com]
  • Cycles of aggressive and impulsive behaviour alternated rapidly with cycles of infantile-regressive behaviour, e.g. shouting and crying at age 35 years when confronted with the need for a medical blood sampling.[doi.org]
Aggressive Behavior
  • behavior syndrome X-linked intellectual disability-hypotonic face syndrome X-linked intellectual disability-macrocephaly-macroorchidism syndrome X-linked intellectual disability-plagiocephaly syndrome X-linked intellectual disability-precocious puberty-obesity[se-atlas.de]
  • Clinical description Other manifestations included floppiness, susceptibility to infections, and later, flaccid tetraplegia and areflexia.[orpha.net]
  • […] metabolic diseases - Epidemiological data: Class of prevalence: Average age onset: neonatal/infancy Average age of death: before age 5 Type of inheritance: x-linked recessive External references: 1 OMIM reference - No MeSH references Very frequent - Areflexia[csbg.cnb.csic.es]
  • Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS): a new syndrome Nicolaides P, Appleton RE, Fryer A.[disorders.eyes.arizona.edu]
  • Children with IOSCA present with ataxia, peripheral neuropathy,areflexia, athetosis, and Babinski signs early in the first decade of life.[what-when-how.com]
  • […] recessive (BIN1) Central core disease of muscle (RYR1) Myopathy, congenital, with fiber-type disproportion (ACTA1, SEPN1, TPM3) Minicore myopathy, severe classic form (SEPN1) Early-onset myopathy with fatal cardiomyopathy (TTN) Early-onset myopathy, areflexia[meduniwien.ac.at]
  • He was unable to perceive and describe his own physical problems during medical visits, rejected social contacts, and neglected the need for medical and rehabilitative treatment.[doi.org]
  • As dementia progresses, language ability may begin to deteriorate and the individual may neglect to care for himself appropriately.[britannica.com]
  • […] epilepsy cherry red spot on fundoscopy resembles Hurler's syndrome dysmorphic features, skeletal abnormalities, cherry red spot, HS megaly DD Leukoencephalopathy due to decreased fatty aldehyde dehydrogenase Triad of: ichthyosis, MR, spastic diplegia or quadriplegia[quizlet.com]


  • […] mitochondrial and peroxisomal fission among patients with unexplained lactic acidemia. 24 Assessment of the morphologic characteristic of mitochondria in cultured cells with the use of a fluorescent probe could serve as an informative step in the diagnostic workup[nejm.org]


  • Management and treatment Treatment with S-adenosylmethionine may be beneficial and is currently under evaluation.[orpha.net]
  • To replenish low levels of purines, treatment with S-adenosylmethionine theoretically could have therapeutic efficacy, and a clinical trial involving the two affected Australian brothers is currently underway.[ncbi.nlm.nih.gov]
  • Other non-clinical treatment options include educational programs tailored to their individual needs. Sensorineural hearing loss has been treated with cochlear implantation with good results.[en.wikipedia.org]
  • PRPS1 mutations: four distinct syndromes and potential treatment. Am J Hum Genet. 2010 Apr 9;86(4):506-18. doi: 10.1016/j.ajhg.2010.02.024. Review. de Brouwer APM, Duley JA, Christodoulou J. Arts Syndrome. 2008 Oct 21 [updated 2011 Mar 29].[ghr.nlm.nih.gov]


  • Prognosis The disease has a fatal course during childhood (the majority of patients die before the age of 5 years) due to the high susceptibility of the patients to infections, especially of the upper respiratory tract.[orpha.net]
  • The prognosis for Leigh syndrome is poor. Depending on the defect, individuals typically live a few years.[rarediseasesnetwork.org]
  • The presence of syndactyly seems to represent a different genetic variant of LQTS also associated with a poor prognosis.[aetna.com]


  • Etiology It is caused by missense mutations in the phosphoribosyl pyrophosphate synthetase 1 gene ( PRPS1 ) localized to Xq22.1-q24, leading to impaired purine biosynthesis.[orpha.net]
  • Other possible immune etiologies for ataxic disorders have been proposed, including antibodies against glutamic acid decarboxylase and gliadin.[what-when-how.com]
  • Candidates for diagnostic testing include infants, children, and adults with generalized hypotonia and proximal muscle weakness of unknown etiology.[aetna.com]
  • PAS pos globoid cells in white matter Tx: hematopoietic stem cell transplant, BM transplant bilateral optic neuropathy due to mitochondrial DNA mutation painless loss of central vision, usually starting in adolescence or early adulthood has multiple etiologies[quizlet.com]
  • His older brother (II-1) was affected by a neurological disease for which a metabolic etiology was suspected but never confirmed. In II-1, psychomotor delay was reported since first age of life, and he never achieved sitting or standing position.[link.springer.com]


  • Summary Epidemiology It was initially described in 12 male members from five generations of a Dutch family. Arts syndrome has also been described in one Australian family.[orpha.net]
  • (Orphanet): - Inborn errors of metabolism - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease - Rare otorhinolaryngologic disease Classification (ICD10): - Endocrine, nutritional and metabolic diseases - Epidemiological[csbg.cnb.csic.es]
  • From the molecular data presently available, three main epidemiologic results emerge: (a) Mutations in the gene encoding a gap junction protein, connexin 26, account for about half of the cases of prelingual isolated deafness in Caucasian populations;[ommbid.mhmedical.com]
  • Relevant External Links for OPA1 Genetic Association Database (GAD) OPA1 Human Genome Epidemiology (HuGE) Navigator OPA1 Atlas of Genetics and Cytogenetics in Oncology and Haematology: OPA1 No data available for Genatlas for OPA1 Gene OPA1 increases the[genecards.org]
  • Screening and diagnosis for the fragile X syndrome among the mentally retarded: An epidemiological and psychological survey. Am J Hum Genet. 1997;61:660-667. Gonnaud PM, Sturtz F, Bonnebouche C, et al.[aetna.com]
Sex distribution
Age distribution


  • Each form is introduced by a brief history of how the gene was discovered, followed by the description of its clinical features and the established or putative role of the encoded protein, as well as the current hypotheses concerning the associated pathophysiological[ommbid.mhmedical.com]
  • The pathophysiology of NAION is unknown, but it is related to poor circulation in the optic nerve head.[en.wikipedia.org]
  • Clinical manifestations, pathophysiology, and diagnosis of atrioventricular (AV) canal defects. UpToDate [online serial]. Waltham, MA: UpToDate; reviewed December 2013. Altman CA.[aetna.com]


  • Routine immunizations against common childhood infections and annual influenza immunization can also help prevent any secondary infections from occurring. Regular neuropsychological, audiologic, and ophthalmologic examinations are also recommended.[en.wikipedia.org]
  • Prevention of secondary complications: Routine immunizations against common childhood infections and annual influenza immunization. Surveillance: Regular neuropsychological, audiologic, and ophthalmologic examinations. Genetic counseling.[ncbi.nlm.nih.gov]
  • Mutations of residue D32, S33 and G34 mediate β-catenin oncogenic activity by preventing degradation and thus stabilizing it [ Provost 2005 ].[elm.eu.org]
  • In SCA1, preventing nuclear entry of mutated protein can prevent pathology. 4. Truncated constructs of the gene resulting in fragments of the protein containing the polyglutamine tract can often be more toxic than full-length protein. 5.[what-when-how.com]

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