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]

Hereditary ataxia with vitamin E deficiency is recessive and can present with symptoms very similar to those found in Friedreich’s ataxia. [movementdisorders.org]

• Pain

  Abstract We describe 4 siblings with spastic paraparesis and peroneal amyotrophy who were prone to severe pain and painful dysesthesias, tetraparesis and pyramidal signs during pyrexial episodes of variable etiology. [link.springer.com]

  [dys- + G. tropos, a turning] dysuria (dis-u′re-a) Difficulty or pain in urination. SYN: dysury. [theodora.com]

  It most commonly occurs in the renal arteries and is a major cause of renovascular hypertension. fibrous dysplasia of bone thinning of the cortex of bone and replacement of bone marrow by gritty fibrous tissue containing bony spicules, causing pain, disability [medical-dictionary.thefreedictionary.com]

  Over time, individuals with SCA1 may develop numbness, tingling, or pain in the arms and legs (sensory neuropathy); uncontrolled muscle tensing (dystonia); muscle wasting (atrophy); and muscle twitches (fasciculations). [ghr.nlm.nih.gov]

  Antispasmodic and/or anticonvulsive medications, and analgesics for some painful neuropathies, may control and relieve the respective symptoms in some ataxia subtypes. [encyclopedia.com]

• Vomiting

  During these episodes, many people also experience dizziness (vertigo), nausea and vomiting, migraine headaches, blurred or double vision, slurred speech, and ringing in the ears (tinnitus). [diseaseinfosearch.org]

  […] occurring in various brain disorders) 19q SCA16 39 yrs (20-66) 1-40 years Head and hand tremor 8q SCA17 ( TBP ) CAG repeat, 6q (TATA-binding protein) SCA19, SCA22 Mild cerebellar syndrome, dysarthria SCA25 1.5-39 yrs Unknown ataxia with sensory neuropathy, vomiting [psychology.wikia.com]

  […] disorders) 19q SCA16 ( ITPR1 ) 39 yrs (20–66) 1–40 years Head and hand tremor 8q SCA17 ( TBP ) CAG repeat, 6q (TATA-binding protein) SCA19, SCA22 ( KCND3 [19] ) Mild cerebellar syndrome, dysarthria SCA25 1.5–39 yrs Unknown ataxia with sensory neuropathy, vomiting [en.wikipedia.org]

  ABCB11-related intrahepatic cholestasis, see benign recurrent intrahepatic cholestasis ABCB4-related intrahepatic cholestasis, see progressive familial intrahepatic cholestasis abdominal hernia, see abdominal wall defect abdominal migraine, see cyclic vomiting [mygenomics.com]

  Alexander disease as a cause of nocturnal vomiting in a 7-year-old girl. Pediatr Radiol 2009: 39: 872-875. エビデンスレベル V Namekawa M, Takiyama Y, Honda J, Sakoe K, Naoi T, Shimazaki H, Yamagata T, Momoi MY, Nakano I. [plaza.umin.ac.jp]

• Nausea

  During these episodes, many people also experience dizziness (vertigo), nausea and vomiting, migraine headaches, blurred or double vision, slurred speech, and ringing in the ears (tinnitus). [diseaseinfosearch.org]

  During attacks some individuals may experience vertigo, blurred vision, diplopia, nausea, headache, diaphoresis, clumsiness, stiffening of the body, dysarthric speech, and difficulty in breathing. Onset is in childhood or early adolescence. [lacaf.org]

  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]

  [dys- + G. pareunos, lying beside, fr. para, beside, + eune, a bed] dyspepsia (dis-pep′se-a) Impaired gastric function or “upset stomach” due to some disorder of the stomach; characterized by epigastric pain, sometimes burning, nausea, and gaseous eructation [theodora.com]

• Muscle Cramp

  cramps may be a troublesome feature. [acnr.co.uk]

  cramps syndrome autosomal dominant familial periodic fever, see tumor necrosis factor receptor-associated periodic syndrome autosomal dominant hereditary pancreatitis, see hereditary pancreatitis autosomal dominant hereditary sensory radicular neuropathy [mygenomics.com]

• Restless Legs Syndrome

  For example, parkinsonism, restless legs syndrome, spasticity, sleep disorders and depression can be treated pharmacologically. Dystonia and spasticity can be managed with local botulinum toxin injections. [orpha.net]

• 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]

• Blurred Vision

  During attacks some individuals may experience vertigo, blurred vision, diplopia, nausea, headache, diaphoresis, clumsiness, stiffening of the body, dysarthric speech, and difficulty in breathing. Onset is in childhood or early adolescence. [lacaf.org]

  The onset of EA1 occurs in general around the five to six years of age, with muscles quickly becoming flaccid or rigid, tremors in the head or in the limbs, blurred vision, and/or vertigo. [encyclopedia.com]

• Hematuria

  […] autosomal dominant cerebrovascular amyloidosis, see hereditary cerebral amyloid angiopathy autosomal dominant congenital stationary night blindness Autosomal dominant craniometaphyseal dysplasia, see craniometaphyseal dysplasia autosomal dominant familial hematuria [mygenomics.com]

• Onset in Adolescence

  The age of onset ranges from 10 to 40 years. SCA11 ataxia is a very rare disease, mapped to chromosome 15. SCA11 progresses slowly over decades, with onset between adolescence and young adulthood. [encyclopedia.com]

  Ataxia telangiectasia has many features in common with AOA together with cutaneous and scleral telangiectasiae, diabetes, immunodeficiency and sensitivity to radiation causing tumours. 19 Late-onset Alexander’s disease may have onset in adolescence and [acnr.co.uk]

• Ataxia

  […] dominant, is related to spastic ataxia 2, autosomal recessive and spastic ataxia 5, autosomal recessive, and has symptoms including cerebellar ataxia and memory loss. [malacards.org]

  HSP 11, 15, 20, 21 and 27 may also present with ataxia, although often show distinguishing features. 36,37 In the spinocerebellar ataxias (SCAs), cerebellar ataxia generally predominates and inheritance is autosomal dominant. [acnr.co.uk]

  Autosomal Dominant Ataxia Gene Each child of a parent with an autosomal dominant Ataxia gene has a 50% chance of inheriting the Ataxia gene. [ataxia.org]

  autosomal dominant spinocerebellar ataxias, dentatorubral-pallidoluysian atrophy, and episodic ataxias. [medlink.com]

• Spastic Paraplegia

  Further reading [ edit ] GeneReviews/NCBI/NIH/UW entry on Spastic Paraplegia 3A GeneReviews/NCBI/NIH/UW entry on Hereditary Spastic Paraplegia Overview Warner, Tom (January–February 2007). "Hereditary Spastic Paraplegia" (PDF). [en.wikipedia.org]

  Reported by Schwarz G.A.: Hereditary (familial) spastic paraplegia. Arch Neurol Psych 8:655–682, 1952. Google Scholar [15] Schwarz G.A. : Hereditary (familial) spastic paraplegia. Arch Neurol Psych 68:655–682, 1952. [link.springer.com]

  CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5. Brain. 2009 Jun;132(Pt 6):1589-600. [disorders.eyes.arizona.edu]

  Six new chapters cover congenital myasthenic syndromes, hereditary spastic paraplegia, ion channel disorders, the phakomatoses, beta-galactosidase deficiency, and prion diseases. [books.google.com]

  […] ataxia of Charlevoix-Saguenay autosomal recessive spastic paraplegia 15, see spastic paraplegia type 15 autosomal recessive spastic paraplegia 5A, see spastic paraplegia type 5A autosomal recessive spastic paraplegia complicated with thin corpus callosum [mygenomics.com]

• Chorea

  SCA1 (autosomal dominant type1) 6p23 with > 40 CAG repeats (Exonic) Ataxin1 Ataxia with ophthalmoparesis, pyramidal and extrapyramidal findings, chorea, spasticity, neuropathy, ophthalmoplegia SCA2 (autosomal dominant type 2) 12q24.1 with > 31CAG repeats [bcm.edu]

  + Orthostatism ; Recessive Motor Motor neuron & Fasciculations: SCA 3, 36 Cramps: 2, 3 UMN signs Common: SCA 1, 3, 7, 9, 12, 35 Some: SCA 6, 8 Rarely: SCA 2 Spastic ataxias Extrapyramidal Akinesia/rigidity/dystonia: SCA 3, 9, 17, 21 ; 12 (Akinesia) Chorea [neuromuscular.wustl.edu]

  Rarely, rigidity, tremors, and involuntary jerking movements (chorea) have been reported in people who have been affected for many years. [ghr.nlm.nih.gov]

  • In some cases of SCAs- myoclonus or chorea may be superimpose on postural tremor. 10. [slideshare.net]

  […] gyration and polymicrogyria (BLCPMG) OCLN Baraitser-Winter syndrome ACTB, ACTG1 Bardet-Biedl Syndrom BBS1, BBS2, BBS10 Barth syndrome TAZ Bartter Syndrom CLCNKA, CLCNKB, BSND, KCNJ1, SLC12A1, CASR Beckwith-Wiedemann- Syndrom ME030-C3 benigne hereditäre Chorea [meduniwien.ac.at]

• 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]

• Paresis

  Certain clinical cerebellar syndromes might have characteristic patterns – FRDA1- fixation instability, square wave jerk, consistently undershoot or overshoot the target during horizontal saccadic eye movements (saccadic dysmetria) – ABL -progressive paresis [slideshare.net]

  Neurological abnormalities were present in 47 patients (20.2%), with CNS dysfunction (central paresis, dyskinesia, ataxia) in 45 (19.3%). [karger.com]

  Kufor-Rakeb Syndrome Clinical Characteristics Ocular Features: Most patients have a supranuclear gaze paresis. Patients later may have dystonic oculogyric spasms. [disorders.eyes.arizona.edu]

  Antiparetic and antispastic effects induced by tizanidine in patients with spastic paresis. Journal of the Neurological Sciences. 1982;53(2):187-204. ^ Bes A, Eyssette M, Pierrot-Deseilligny E, Rohmer F, Warter JM. [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]

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

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

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]

Autosomal dominant cerebellar ataxia Autosomal dominant is the manner in which this condition is inherited Types ADCS type1, ADCA type 2, ADCA type 3 [1] Diagnostic method MRI, CT scan [2] Treatment Anticonvulsants may be used [1] Autosomal dominant cerebellar [en.wikipedia.org]

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]