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]

[…] in 20s-30s In younger adults, can present as fatigue In older adults, can present as leg and trunk weakness Some patients present with respiratory failure or develop it later Increased CK Myotonia on EMG (particularly in paraspinal muscles); this is [quizlet.com]

Fifty-three loci have presently been reported. The 17 deafness forms for which the genes have been identified are presented. [ommbid.mhmedical.com]

• Developmental Delay

  The initial symptoms of the 1-year-old proband were hypotonia and ataxia, worsening recurrent infection-triggered muscle weakness, motor and intellectual developmental delay, and hearing loss. [ncbi.nlm.nih.gov]

  Developmental delay. Intellecual disability. Vision loss caused by optic nerve atrophy in early childhood. Peripheral neuropathy. Recurrent infections, especially in the respiratory system. [en.wikipedia.org]

  Other features include weak muscle tone ( hypotonia ), impaired muscle coordination ( ataxia ), developmental delay, and intellectual disability. [rarediseases.info.nih.gov]

  […] membranous cranial ossification Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome Desbuquois syndrome Desmosterolosis Developmental and speech delay due to SOX5 deficiency Developmental delay-deafness syndrome, Hildebrand type Diaphanospondylodysostosis [se-atlas.de]

  Other features of the disorder include weak muscle tone (hypotonia), impaired muscle coordination (ataxia), developmental delay, and intellectual disability. [ghr.nlm.nih.gov]

• Fever

  causing buildup of porphobilinogen buildup AD, chr 11q Onset usually adolescence and early adulthood Attacks are periodic and may be triggered by certain meds, fasting, infection, hormonal changes (pregnancy) Severe abdominal pain during attacks, fever [quizlet.com]

  Patients with nonbacterial, or aseptic, meningitis also have fever, headache, and other meningeal signs, but they are not so obviously ill. [britannica.com]

  Deficiency, Combined Factor V Deficiency Factor VII Deficiency Factor X Deficiency Factor XI Deficiency Factor XII Deficiency Familial Advanced Sleep Phase Syndrome Familial Cold Autoinflammatory Syndrome Familial Dysautonomia Familial Mediterranean Fever [sequencing.com]

  Alpha-Mannosidase B Deficiency Alpha-Mannosidase Deficiency Lysosomal Alpha B Mannosidosis Lysosomal Alpha-D-Mannosidase Deficiency Mannosidosis MCOLN1 Mucolipidosis Iv Ganglioside Sialidase Deficiency ML4 MLIV Sialolipidosis MEFV Familial Mediterranean Fever [nxgenmdx.com]

  3 Familial Mediterranean Fever, Autosomal Dominant 3 Familial Medullary Thyroid Carcinoma 3 Familial Porphyria Cutanea Tarda 3 Familial Renal Hypouricemia 1 Familial Type 5 Hyperlipoproteinemia 1 Familial Visceral Amyloidosis, Ostertag Type 1 Fanconi [preventiongenetics.com]

• 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]

• Poor Growth

  […] swallowing Swallowing difficulties Swallowing difficulty [ more ] 0002015 Growth delay Delayed growth Growth deficiency Growth failure Growth retardation Poor growth Retarded growth [ more ] 0001510 Hearing impairment Deafness Hearing defect [ more ] [rarediseases.info.nih.gov]

• Unconsciousness

  Bleeding into the pons causes paresis of all limbs and unconsciousness. Bleeding into the cerebellum produces typical signs of incoordination with headache and stiffness of the neck. [britannica.com]

• Hearing Impairment

  These mutations result in DFNX1 nonsyndromic hearing impairment ( 9, 10, 11, 12, 13 ) ( Table 1 ). [doi.org]

  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]

• Tinnitus

  Vestibulocochlear nerve When both divisions of the vestibulocochlear nerve are affected by disease, symptoms may include ringing in the ear ( tinnitus ), a sensation of spinning ( vertigo ), and other symptoms such as deafness. [britannica.com]

• Incontinence

  Patients typically lose ambulation 10 to 15 years after onset and, at this stage, develop increasing dys-phagia; some may have urinary incontinence. [what-when-how.com]

• Dysarthria

  This may consist of cerebellar ataxia, hypotonia, drowsiness, dysarthria, and lethargy. There may be partial or full recovery following the febrile illness initially but some signs remain after subsequent episodes. [disorders.eyes.arizona.edu]

  Associated symptoms may include hearing loss, myopathy, ataxia, peripheral neuropathy, dysarthria, optic atrophy, dementia. parkinsonism, and psychiatric problems. [rarediseasesnetwork.org]

  Diagnosis Clinical Features Patients with autosomal dominant ataxia present with progressive gait problems, dysarthria, and occasionally diplopia.36-38 In addition to having cerebellar signs, these patients exhibit a variety of other neurologic deficits [what-when-how.com]

  Mutations in VAMP1 gene are causing spastic ataxia 1 (SPAX1), a rare neurodegenerative disorder characterized by lower-limb spasticity and ataxia in the form of head jerks, ocular movement abnormalities, dysphagia, dysarthria, and gait disturbance 19. [centogene.com]

  Gerstmann-Straussler disease typically presents with progressive limb and truncal ataxia, dysarthria, and cognitive decline in the thirties and forties, and the average disease duration is 7 years. [elm.eu.org]

• Areflexia

  Clinical description Other manifestations included floppiness, susceptibility to infections, and later, flaccid tetraplegia and areflexia. [orpha.net]

  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]

  […] 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]

  Children with IOSCA present with ataxia, peripheral neuropathy,areflexia, athetosis, and Babinski signs early in the first decade of life. [what-when-how.com]

  Showing of 31 | 80%-99% of people have these symptoms Areflexia Absent tendon reflexes 0001284 Ataxia 0001251 Death in infancy Infantile death Lethal in infancy [ more ] 0001522 Decreased nerve conduction velocity 0000762 Global developmental delay 0001263 [rarediseases.info.nih.gov]

• Global Developmental Delay

  Showing of 31 | 80%-99% of people have these symptoms Areflexia Absent tendon reflexes 0001284 Ataxia 0001251 Death in infancy Infantile death Lethal in infancy [ more ] 0001522 Decreased nerve conduction velocity 0000762 Global developmental delay 0001263 [rarediseases.info.nih.gov]

  […] membranous cranial ossification Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome Desbuquois syndrome Desmosterolosis Developmental and speech delay due to SOX5 deficiency Developmental delay-deafness syndrome, Hildebrand type Diaphanospondylodysostosis [se-atlas.de]

  Angelman and Prader-Willi syndromes Angelman syndrome (AS) is a neurogenic disorder characterized by developmental delay, lack of speech, seizures and walking and balance disorders. [aetna.com]

• Neglect

  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]

• Vertigo

  In Ménière disease an accumulation of fluid in the inner ear produces increasing deafness, tinnitus, and vertigo. Benign postural vertigo is characterized by brief severe attacks of vertigo induced by movement, especially turning in bed. [britannica.com]

  Migrainous Vertigo Migrainous vertigo is a term used to describe episodic vertigo in patients with a history of migraines or with other clinical features of migraine. Approximately 20 to 33 % of migraine patients experience episodic vertigo. [aetna.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]

• Hypouricemia

  Nephropathy 2 Familial Limb-Girdle Myasthenic Syndrome With Tubular Aggregates 3 Familial Mediterranean Fever 3 Familial Mediterranean Fever, Autosomal Dominant 3 Familial Medullary Thyroid Carcinoma 3 Familial Porphyria Cutanea Tarda 3 Familial Renal Hypouricemia [preventiongenetics.com]

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]

Treatment Treatment Options: No treatment is known for this condition but physical therapy and mobility-assistive devices may be helpful. Low vision aids may be useful as well. [disorders.eyes.arizona.edu]

Each of the 355 disorders profiled provides the history of the condition, its prevalence, causes, treatment (if any), and further reading. Interesting sidebars and compelling photos that help inform content accompany many entries. [books.google.com]

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]

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]

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]

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]