Nystagmus is sometimes present. [disorders.eyes.arizona.edu]

Clinical description The disease typically presents in the 4th decade (age range = 4-74 years). [orpha.net]

She is board certified in Neurology (1997-present) and is a member of the American Academy of Neurology, the American Neurological Association and the Movement Disorder Society. [books.google.com]

• Abnormal Eye Movement

  The Neurology of Eye Movements, edition 5, has two interrelated parts. [books.google.com]

  Other main symptoms are irregularities in the retina of the eye, bone and skin changes, and the abnormal gait, speech patterns, and muscle movements associated with cerebellar ataxia. [encyclopedia.com]

  Ataxia with Oculomotor Apraxia 3 Clinical Characteristics Ocular Features: Ocular movement abnormalities are noted at the same time as other peripheral motor difficulties. Slow saccadic eye movements, and head-eye lag are evident. [disorders.eyes.arizona.edu]

• Hyperreflexia

  Affiliated tissues include eye, and related phenotypes are supranuclear gaze palsy and hyperreflexia UniProtKB/Swiss-Prot : 75 Spastic ataxia 1, autosomal dominant: An autosomal dominant form of spastic ataxia, a progressive neurodegenerative disorder [malacards.org]

  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]

  Hyperreflexia and a positive Babinski sign are commonly presently. Mild cognitive impairment and depression have been seen in a minority of patients. Brain MRIs show cerebellar hemispheric and vermian atrophy. [disorders.eyes.arizona.edu]

  SCA3 type 1 (MJD Type 1, see this term) is associated with ataxia, ophthalmoparesis, pyramidal signs such as spasticity and hyperreflexia, and extrapyramidal signs including dystonia and other movement disorders presenting in adolescence. [orpha.net]

  mild SCA12 (autosomal dominant type 12) 5q31-q33, > 66 CAG repeats in the promotor region, coding for protein phosphatase 2A Tremor, bradykinesia, parkinsonism, dementia, hyperreflexia SCA13 (single French family) 19q13.3-q13.4 (6q27 with CAG repeats [bcm.edu]

• Abnormal Gait

  Clinical features of hereditary cerebellar ataxia are poor coordination of movement and abnormal, dysfunctional, wide-based uncoordinated and unsteady gait. [centogene.com]

  Clinical signs are varied, with some patients having limb and gait ataxia along with episodic headaches or nausea, and others having gait ataxia, speech difficulty, and abnormal eye movements. [encyclopedia.com]

  Many mutated genes are linked to abnormal lipid metabolism. [en.wikipedia.org]

In adults, Vitamin E and occasionally Vitamin B-12 deficiency are rarely a cause of chronic progressive ataxia and should not be overlooked in a diagnostic workup. [movementdisorders.org]

This network is dedicated to the acceleration of clinical trials in search of effective treatments for SMA. [books.google.com]

Treatment Treatment Options: No treatment has been reported. [disorders.eyes.arizona.edu]

Management and treatment In the absence of specific treatments to slow or stop disease progression, care is supportive. For example, parkinsonism, restless legs syndrome, spasticity, sleep disorders and depression can be treated pharmacologically. [orpha.net]

Treatment team Neurologists and geneticists are the front line treatment team for people with ataxia, along with specialized nurses and therapists. [encyclopedia.com]

Prognosis Prognosis is poor. In the late stages of the disease, usually 10 to 15 years following onset, bulbar dysfunction secondary to affection of lower medullary nuclei results in aspiration which is life-threatening. [orpha.net]

The prognosis is bleak, with a gradual progression to disability and death within 10-20 years. Ref: Orr, H.T. et al. (1993). Expansion of an unstable CAG trinucleotide repeat in spinocerebellar ataxia type I. Nature Genet. 4, 221-26. [gpnotebook.co.uk]

Prognosis The prognosis for a person with ataxia depends upon the type and nature of the disease. Ataxia as a result of trauma or infection may be a temporary condition, or leave some degree of permanent disability. [encyclopedia.com]

Prognosis [ edit ] Although HSP is a progressive condition, the prognosis for individuals with HSP varies greatly. It primarily affects the legs although there can be some upperbody involvement in some individuals. [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 SCA1 is caused by CAG repeat expansions in the ATXN1 gene region on chromosome 6p23. Prognosis Prognosis is poor. [orpha.net]

Article / Publication Details First-Page Preview Abstract Objective: Investigation of etiological factors in mental retardation (MR). [karger.com]

In many cases, etiology of ataxia remains uncertain despite a complete workup. Because many chronic cerebellar ataxias are genetically determined, family history should be obtained. [movementdisorders.org]

Consequently, they are often approached together in epidemiological studies. [karger.com]

Summary Epidemiology Prevalence is estimated to be 1-2 in 100,000 with significant geographical and ethnic variations. Clinical description The disease typically presents in the 4th decade (age range = 4-74 years). [orpha.net]

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

Methods: An epidemiological study of cerebellar ataxia was done in two villages in the Indian state of Tamilnadu where its prevalence was observed to be high. [neurologyindia.com]

Clinical, genetic, molecular, and pathophysiological insights into spinocerebellar ataxia type 1. Cerebellum. 2008;7(2):106-14. doi: 10.1007/s12311-008-0009-0. Review. Zoghbi HY, Orr HT. [ghr.nlm.nih.gov]

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

Interestingly, the consistent pattern of selective temporal RNFLT reduction in our study prompts the question of pathophysiologic relevance. [journals.plos.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]

Matilla‐Dueñas A, Goold R and Giunti P (2008) Clinical, genetic, molecular, and pathophysiological insights into spinocerebellar ataxia type 1. Cerebellum 7(2): 106–114. [els.net]

Prevention of secondary complications: Joint contractures can be prevented by appropriate physiotherapy. Surveillance: annual neurologic examination. [lacaf.org]

These aggregates prevent the ataxin-1 protein from functioning normally, which damages cells and leads to cell death. For reasons that are unclear, aggregates of ataxin-1 are found only in the brain and spinal cord (central nervous system). [ghr.nlm.nih.gov]

Treatment [ edit ] No specific treatment is known that would prevent, slow, or reverse HSP. Available therapies mainly consist of symptomatic medical management and promoting physical and emotional well-being. [en.wikipedia.org]

Appropriate counseling, prenatal evaluation and therapy will prevent the spread of disease to the next generation. Keywords: Clinical features; genetics; India; prevalence; SCA1. [neurologyindia.com]

Conclusion: Establishing the diagnosis in older mentally retarded patients is important in the prevention of medical complications and in the development of management strategies for the institution. [karger.com]