Symptoma

Autosomal Recessive Spinocerebellar Ataxia

SCAR2

Ataxia, both truncal and cerebellar, is present. Mobility is impaired from early childhood and eventually requires assistance. Joint contractures sometimes develop and patients can be wheelchair-bound by the second decade. [disorders.eyes.arizona.edu]

Acronym SCAR16 Keywords Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]

DISCUSSION The present study describes a new locus on chromosome 11p15 for an autosomal recessive spinocerebellar ataxia in a Dutch family. [jmg.bmj.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]

These patients present with gait ataxia usually with headache and papilledema. Progressive hydrocephalus can also present with subacute-onset ataxia. [jpgmonline.com]

  • Coarse Facial Features

    Autosomal recessive spinocerebellar ataxia 20 (SCAR20) is a recently described disorder characterized by intellectual disability, ataxia, coarse facial features, progressive loss of Purkinje cells in the cerebellum and often hearing loss and skeletal [ncbi.nlm.nih.gov]

  • 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 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]

    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]

    Neurological examination revealed bilateral plantar extensor responses, abolished Achilles reflexes, and finger to nose dysmetria. [karger.com]

    A slowly progressive cerebellar syndrome with various combinations of oculomotor disorders, dysarthria, dysmetria/kinetic tremor, and ataxic gait are key presenting features. [emedicine.medscape.com]

  • Hyperreflexia

    18p11.22-q11.2 Spinocerebellar ataxia (SCA29) OMIM #117360 Early onset, nonprogressive ataxia Vermian hypoplasia -- 18p11.22-q11.2 Spinocerebellar ataxia(SCA30) OMIM #613371 Dysarthria Lower limb hyperreflexia Hypermetric saccades -- 4q34.3-q35.1 [emedicine.medscape.com]

    Typical clinical signs and symptoms of autosomal dominant ataxias (ADCA) include the following: Limb and truncal ataxia Hyperreflexia and spasticity (pyramidal signs) are commonly found in patients with SCA1 and SCA3 Cognitive impairment has been reported [centogene.com]

    Clinical examination showed an ataxic gait, with appendicular dysmetria, and patellar and ankle hyperreflexia. Muscle tone and strength were preserved. [oatext.com]

    Neurological examination showed normal strength in all extremities, hypertonia in his legs, and hyperreflexia with Babinski signs bilaterally. Limb ataxia and severe gait ataxia were present with an inability to walk. [jmg.bmj.com]

  • Upbeat Nystagmus

    Neurological examination showed normal mental status, an upbeat nystagmus, saccadic pursuit eye movements, and cerebellar dysarthria. At inspection fasciculations were present in the forearms, hands, and legs. [jmg.bmj.com]

  • Acanthocytes

    […] cholestanol levels (if CTX is suspected) Third tier (rarer genetic conditions typically seen in a younger cohort with ataxia and other symptoms such as dystonia, peripheral neuropathy, visceral involvement and cognitive impairment): peripheral blood smear for acanthocytes [practicalneurology.com]

    Extensive laboratory investigation of acanthocytes, cholesterol, triglycerid, low density lipoproteins, very low density lipoproteins, lactate, pyruvate, thyroid function, vitamin E, lysosomal enzymes, copper and ceruloplasmin, alpha-fetoprotein, and [jmg.bmj.com]

[…] following treatment articles: Treatments for Spinocerebellar ataxia Causes See also causal information: Causes of Spinocerebellar ataxia Causes of Autosomal recessive disorders Genetics See also genetics of related diseases: Genetics of Spinocerebellar [familydiagnosis.com]

Treatment Treatment Options: No treatment has been reported. However, physical therapy, assistive devices for mobility, and low vision aids may be helpful. [disorders.eyes.arizona.edu]

CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. [diseaseinfosearch.org]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice . [uniprot.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 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]

Translational Studies (EFACTS): This is a study originally funded by the European Commission and that will gather vital information about the progression of Friedreich’s ataxia (FA) which can be delivered to patients to give them a better knowledge of their prognosis [euroataxia.org]

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]

She divided those with a known etiology (eg, abetalipoproteinemia, ataxia telangiectasia) from those whose etiology was unknown (eg, Friedreich ataxia, Ramsay Hunt syndrome, cerebellar ataxia with retinal degeneration). [medlink.com]

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]

Through the past 15 years, significant progress has been made in improving our understanding of the genetic etiology of the ARCA. [wjgnet.com]

Hereditary cerebellar ataxias are a clinically, pathologically, and etiologically heterogeneous group of disorders [ 1, 2 ]. [e-jmd.org]

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]

Case control studies and epidemiological studies, including genetic sequencing of ARCA, are needed in Korea. [e-jmd.org]

Epidemiology Prevalence of ADCAs has been estimated as between 0.3 to 2 per 100,000 [ 7 ]. [patient.info]

The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies. [e-sciencecentral.org]

The Global Epidemiology of Hereditary Ataxiaand Spastic Paraplegia: A systematic review of prevalence studies. Neuroepidemiology 2014; 24:174-183. Ashizawa T, Figueroa KP, Perlman SL, et al. [rarediseases.org]

• Researchers are rapidly learning about the underlying pathophysiology behind the inherited ataxia syndromes. [medlink.com]

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]

Tracking pathophysiological processes in Alzheimer’s disease: an updated hypothetical model of dynamic biomarkers. Lancet Neurol 2013; 12: 207-216 7 Bateman RJ, Xiong C, Benzinger TL et al. Dominantly Inherited Alzheimer Network. [thieme-connect.com]

The pathophysiology of cerebellar ataxias is as diverse as the various neurological and systemic diseases affecting the cerebellum. [practicalneurology.com]

In this review, we summarise the clinical, genetic and pathophysiological features of this condition, and the investigations used in its diagnosis. [acnr.co.uk]

Collaborative Meta-Analysis of Randomised Trials of Antiplatelet Therapy for Prevention of Death, Myocardial Infarction, and Stroke in High Risk Patients. ‎ [books.google.es]

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]

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]

Hip and knee muscle retraction prevents full leg extension. [oatext.com]

The current great interest of clinical research in preclinical disease stages is due to the belief that therapies or preventive interventions that are initiated in early disease stages may have a greater success rate than therapies that are applied only [thieme-connect.com]