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Autosomal Recessive Spinocerebellar Ataxia 8

ARCA1


Presentation

  • The length of the repeat present in the general population is 16 to 37 repeats in 99% of alleles. The repeat length that is likely to result in disease ranges from 107 to 127 CTG repeats.[ataxia.uchicago.edu]
  • Present on Admission symbol identifies the diseases that will always be coded as present on admission. Hospital Acquired Condition symbol notes specific conditions that will always be coded as hospital acquired. UNIQUE![books.google.com]
  • Superior vermian atrophy is always present in patient with ARSACS 5. A tigroid pattern of the pons has been described (linear hypointensity on T2-WI), and is mainly seen in ARSACS 11.[radiopaedia.org]
  • Since its first report from Québec, more than 100 disease-causing variants have been reported in ARSACS, with variable clinical presentation. MRI imaging may help establishing the clinical diagnosis, especially if typical changes are present.[oatext.com]
Short Stature
  • A form (OMIM:610743) of spinocerebellar ataxia characterised by developmental delay, psychomotor retardation, proportionate short stature, spastic ataxia, microcephaly, optic atrophy, speech defect, abnormal osmiophilic pattern of skin vessels and cerebellar[medical-dictionary.thefreedictionary.com]
  • Stature, Hearing Loss, Retinitis Pigmentosa, and Distinctive Facies SHRF EXOSC2 autosomal recessive SHORT Syndrome lipodystrophy with Rieger anomalies and short stature PIK3R1 autosomal dominant Short-Rib Thoracic Dysplasia 9 conorenal syndrome, Mainzer-Saldino[disorders.eyes.arizona.edu]
  • Clinical features Early onset progressive ataxia Short stature Hypodontia Delayed puberty secondary to gonadal dysfunction Laboratory MRI shows white matter signal abnormalities consistent with central hypomyelination and cerebellar atrophy.[emedicine.medscape.com]
  • stature DRPLA Rare (USA) 20% (Japan) 8 - 20 or 40 - 60's Early onset correlates with shorter duration Chorea, seizures, dementia, myoclonus EA1 Unknown 1st decade (2-15) Attenuates after 20 Myokymia; attacks last seconds to minutes; startle or exercise[slideshare.net]
Proportionate Short Stature
  • A form (OMIM:610743) of spinocerebellar ataxia characterised by developmental delay, psychomotor retardation, proportionate short stature, spastic ataxia, microcephaly, optic atrophy, speech defect, abnormal osmiophilic pattern of skin vessels and cerebellar[medical-dictionary.thefreedictionary.com]
Intestinal Atresia
  • atresia, apple peel syndrome with microcephaly and ocular anomalies, ciliary dyskinesia primary 31, jejunal atresia with microcephaly and ocular anomalies, STROMS CENPF autosomal recessive Sulfite Oxidase Deficiency sulfite oxidase deficiency SUOX autosomal[disorders.eyes.arizona.edu]
Vascular Disease
  • Volume 2 covers tumors, the phacomatoses, and vascular disease. Volume 3 covers degenerative, metabolic, infectious, inflammatory, and demyelinating diseases.[books.google.com]
  • disease Primary or metastatic tumors or paraneoplastic diseases associated with occult carcinoma of the ovary, breast, or lung Disorders of mitochondrial oxidative metabolism Hyperammonemias caused by deficiencies of urea cycle enzymes Aminoacidurias[centogene.com]
Skeletal Dysplasia
  • dysplasia autosomal recessive localized hypotrichosis, see autosomal recessive hypotrichosis autosomal recessive long QT syndrome (LQTS), see Jervell and Lange-Nielsen syndrome autosomal recessive neuromyotonia and axonal neuropathy, see autosomal recessive[mygenomics.com]
  • ., 2000 ), clinical features are distinct, with coarse facial features, corneal clouding, hepatomegaly, skeletal dysplasia, learning disability and myoclonus.[academic.oup.com]
Facial Pain
  • This first volume covers the visual sensory system, the autonomic nervous system, the ocular motor system, the eyelid, facial pain and headache, and nonorganic disease. Volume 2 covers tumors, the phacomatoses, and vascular disease.[books.google.com]
Dysmetria
  • They may also have difficulty with movements that involve judging distance or scale (dysmetria). Other features of ARCA1 include abnormal eye movements (nystagmus) and problems following the movements of objects with the eyes.[ghr.nlm.nih.gov]
  • […] people who have these symptoms is not available through HPO Adult onset Symptoms begin in adulthood 0003581 Autosomal recessive inheritance 0000007 Cerebellar atrophy Degeneration of cerebellum 0001272 Dysarthria Difficulty articulating speech 0001260 Dysmetria[rarediseases.info.nih.gov]
  • They may also have difficulty with movements that involve judging distance or scale ( dysmetria ). Other features of ARCA1 include abnormal eye movements ( nystagmus ) and problems following the movements of objects with their eyes.[en.wikipedia.org]
  • There is a broad-based gait, scanning dysarthria, explosive speech, intention tremor, dysdiadochokinesia, dysmetria and abnormalities of eye movements. There may be movement disorders.[patient.info]
  • Cardinal features - Cerebellar pathology – Stance and gait – Poor regulation and coordination of skilled movements (Dysmetria and dysdiadokinesia) – Eye movement disturbances – Altered Muscle tone (Hypotonia) – Speech (Dysarthria) 6.[slideshare.net]

Workup

  • Further genetic workup revealed 96 CAG repeat expansion compared with a normal of Spinocerebellar ataxia Type 7 is a disease of expanded CAG repeats showing genetic anticipation.[journals.lww.com]
  • Testing for genetic mutations after laboratory workups can help make a definitive diagnosis. Unlike FRDA, there are currently no defined signs and symptoms that define AVED.[forgottendiseases.org]

Treatment

  • Coverage includes major updates on genetics of diseases, new diagnostic techniques, and the newest treatment options.[books.google.com]
  • You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.[rarediseases.info.nih.gov]
  • After treatment, frequency of SI was reduced to about 40/min and 75/min and amplitude significantly decreased to 2,9 and 3,5 , respectively.[neurology.org]
  • To identify relevant publications, a PubMed search using the terms “treatments of cerebellar ataxias,” “degenerative cerebellar ataxia treatment,” and “treatment of hereditary cerebellar ataxia” was conducted.[movementdisorders.org]
  • Management and treatment For most ARCA there is no specific drug treatment, except for coenzyme Q10 deficiency and abetalipoproteinemia. The documents contained in this web site are presented for information purposes only.[orpha.net]

Prognosis

  • Prognosis Prognosis is highly variable between the different types but improvement is unlikely.[patient.info]
  • Correct clinical and genetic diagnosis is important for appropriate genetic counseling and prognosis and, in some instances, pharmacological treatment.[orpha.net]
  • (See 'Prognosis' above and 'Treatment' above.) SCA3, also known as Machado-Joseph disease, is the most common type of SCA (table 1). SCA types 9 through 36 are rare and less well characterized.[es.slideshare.net]
  • Co Q10 supplementation (300 to 600 mg/day) for coenzyme Q10 deficiency. [6] Prognosis [ edit ] In most cases, between the age of 2 and 4 oculomotor signals are present. Between the age of 2 and 8, telangiectasias appears.[en.wikipedia.org]
  • Treatment and prognosis Edit There is no known cure for spinocerebellar ataxia, which is a progressive disease (it gets worse with time), although not all types cause equally severe disability.[psychology.wikia.com]

Etiology

  • Manifestation code symbol spotlights certain conditions for which it is important to record the etiology (cause) and the manifestation (symptom) of the disease.[books.google.com]
  • CCA was defined as an SCA of unknown etiology with imaging evidence of isolated cerebellar atrophy.[movementdisorders.org]
  • Etiology These diseases are caused by mutations in specific genes, some of which have been identified, such as frataxin in Friedreich ataxia, alpha-tocopherol transfer protein in ataxia with vitamin E deficiency (AVED), aprataxin in ataxia with oculomotor[orpha.net]
  • All possible etiologies should be considered when the clinical course is not firmly established.[practicalneurology.com]
  • […] also been documented in case series. 11 Electrophysiological testing shows early cone dysfunction followed by rod dysfunction in later stages, resulting in a cone–rod dystrophy. 12 Differential diagnosis of this disease should include the following etiologies[journals.lww.com]

Epidemiology

  • […] the prevalence of ataxia of all causes. [1] [2] Epidemiologic studies that focus on hereditary types of ataxia have shown a prevalence of around 10 per 100,000 population, and idiopathic ataxia probably outnumbers hereditary cases. [3] Since there are[online.epocrates.com]
  • Consequently, they are often approached together in epidemiological studies.[karger.com]
  • Summary Epidemiology This group encompasses a large number of rare diseases, the most frequent in the Caucasian population being Friedreich ataxia (estimated prevalence 2-4/100,000), ataxia-telangiectasia (1-2.5/100,000) and early onset cerebellar ataxia[orpha.net]
  • They further suggest that epidemiological studies should be conducted to refine the genotype/phenotype correlation in the different ARCA conditions and establish a more accurate and detailed clinical characterization of each one.[friedreichsataxianews.com]
  • Case control studies and epidemiological studies, including genetic sequencing of ARCA, are needed in Korea.[e-jmd.org]
Sex distribution
Age distribution

Pathophysiology

  • The neuropathology, pathophysiology and genetics of multiple system atrophy. Neuropathol Appl Neurobiol. 2012;38:4-24. PubMed Koeppen AH, Mazurkievicz JE. Friedreich Ataxia: Neuropathology Revised. J Neuropathol Exp Neurol 2013;72(2):78-90.[neuropathology-web.org]
  • The pathophysiology of SCA depends on the function of the responsible gene. In some cases, the function of the gene and the pathway whereby cerebellum is damaged has not been discovered.[clinicaladvisor.com]
  • […] and body sway during the 2-week titration period as well as the 8-week reassessment. [31] Insulin-Like Growth Factor Insulin-like growth factor-1 (IGF-1) acts as a neuromodulator in the CNS. [32] Disturbances in CNS signaling pathways may produce the pathophysiological[movementdisorders.org]
  • In this review, we summarise the clinical, genetic and pathophysiological features of this condition, and the investigations used in its diagnosis.[acnr.co.uk]
  • The pathophysiology of cerebellar ataxias is as diverse as the various neurological and systemic diseases affecting the cerebellum.[practicalneurology.com]

Prevention

  • Abetalipoproteinemia treatment is received for its potential in preventing vitamin E deficiency. (1000 mg/day for infants and over 5,000 mg/day for adults.)[en.wikipedia.org]
  • How can spinocerebellar ataxia be prevented? There are no disease-modifying therapies, including none that prevent or postpone symptom onset in individuals carrying the mutated genes.[clinicaladvisor.com]
  • Hip and knee muscle retraction prevents full leg extension.[oatext.com]
  • Prevention Genetic testing enables identification of the causative gene in 50-80% of cases of ADCA [ 15 ] . Pre-symptomatic testing is available but not always wanted. It is usually requested for family planning purposes.[patient.info]
  • Skin care and eventual placement of PEG tube (feeding tube) in patients with swallowing difficulties will help prevent lung infections. For more information, see Appendix - Classification of Spinocerebellar Ataxias .[bcm.edu]

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