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]

• Anemia

  Dyserythropoietic, Congenital, see congenital dyserythropoietic anemia Anemia, hereditary sideroblastic, see X-linked sideroblastic anemia anemia, hypochromic microcytic, with defect in iron metabolism, see iron-refractory iron deficiency anemia Anemia [mygenomics.com]

  Genes in the Ataxia Panel and their clinical significance Gene Associated phenotypes Inheritance ClinVar HGMD ABCB7 Anemia, sideroblastic, and spinocerebellar ataxia XL 8 9 ABHD12 Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract [blueprintgenetics.com]

  Name OMIM RareDiseases Other Anemia, sideroblastic spinocerebellar ataxia; Pagon Bird Detter syndrome 301310 Disease ID 668 at NIH 's Office of Rare Diseases Friedreich's ataxia; Spinocerebellar ataxia, Friedreich 229300 Disease ID 6468 at NIH 's Office [en.wikipedia.org]

  [dys- + G. keras, horn, + -osis, condition] benign d. d. that may occur in congenital and bullous diseases of the skin. d. congenita [MIM*305000] nail dystrophy, oral leukoplakia, and reticular pigmentation of the skin, testicular atrophy with anemia [theodora.com]

  […] dysplasia COACH Congenital muscular atrophy Dandy-Walker Fibroblast GF-3 Gillespie Hoyeraal-Hreidarsson Syndrome: Dyskerin; Xq28 Joubert: 9q34 Lissencephaly X-linked congenital ataxia 1,2 X-LINKED Arts Syndrome CLA2 Pyruvate dehydrogenase E1-a Sideroblastic anemia [slideshare.net]

• Congestive Heart Failure

  heart failure, and subaortic stenosis Skeletal findings - Pes cavus, scoliosis, and hammer toes Metabolic abnormalities - Abnormal glucose tolerance test results, diabetes mellitus, and diabetic ketoacidosis Laboratory findings Abnormal electrocardiographic [emedicine.medscape.com]

• Heart Failure

  In more severe cases, usually associated with paternal inheritance of the defective gene, heart failure, liver disorders, muscle loss, and developmental delays can all occur. [encyclopedia.com]

  Occurs in heart failure and results from reabsorption of water from dependent areas after removal of effect of gravity, causing hypervolemia, aggravating left-ventricular failure. paroxysmal nocturnal d. acute d. appearing suddenly at night, usually waking [theodora.com]

  Clinical features Stage of ataxia; mental deficiency during infantile and childhood stage Delayed development, failure to thrive, hypotonia, and multisystem organ failure Dysmorphic facial features, including prominent ears and nose Fat pads over buttocks [emedicine.medscape.com]

• Heart Disease

  Diabetes and/or some forms of heart disease may also be present in people with Friedreich ataxia. Onset of symptoms usually occurs before 20 years of age. [encyclopedia.com]

• Fracture

  […] may be necessary that the patient be evaluated for appropriate physical aids such as a cane, walker or wheelchair and assistive devices that can be implemented at home. [4] [10] Implementation of safety measures not only reduce the risk of falls and fractures [physio-pedia.com]

  SYN: craniofacial d. fracture. dyskaryosis (dis-kar-e-o′sis) Abnormal maturation seen in exfoliated cells that have normal cytoplasm but hyperchromatic nuclei, or irregular chromatin distribution; may be followed by the development of a malignant neoplasm [theodora.com]

• Foot Deformity

  deformities; defective iron transport from mitochondria Friedreich's ataxia (autosomal recessive) 9p13 (intron 1), GAA repeats, Frataxin Same as phenotype with maps to 9q but associated with vitamin E deficiency Kearns-Sayre syndrome (sporadic) MtDNA [bcm.edu]

  deformity Yes FXTAS FMR1 /FMRP protein Ehm et al. [ 62 ] Gait ataxia, parkinsonism, mood disorder, high signal in MCP Yes Table 3. [e-jmd.org]

• 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]

• Suggestibility

  They suggest that MEG delta mapping might be a serious candidate for a “neural degeneration” marker of AD reflecting dysfunctional synaptic transmission. [practicalneurology.com]

  Thinning of the myelin sheaths with rare onion bulbs may also be observed. 13-15 Taken together, these findings suggest an axonal neuropathy associated with some demyelinating features. Muscle biopsies are typical of neurogenic atrophy. [acnr.co.uk]

  Case reports in the literature suggest that Vitamin B-12 may also occasionally present with chronic ataxia, often related to loss of proprioception. [movementdisorders.org]

  Research suggests that sacsin might play a role in folding newly produced proteins into the proper 3-dimensional shape because it shares similar regions with other proteins that perform this function. [ghr.nlm.nih.gov]

  However, there is promising evidence suggesting that continuous training can in fact induce functional and stabilizing improvements in degenerative cerebellar diseases. [7] There is evidence that improved postural stability, reduced dependence on walking [physio-pedia.com]

• Nystagmus

  Interictal nystagmus or mild ataxia. Provoked by exercise and stress not startle. ½ pts have headache. [slideshare.net]

  Spinocerebellar ataxia 1 See the list below: Clinical features Onset in the fourth decade of life Gait ataxia, dysarthria, dysmetria, nystagmus, peripheral neuropathy, muscle wasting, and dystonia in late stages of the disease Gain of function mutation [emedicine.medscape.com]

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

  tremor; leg spasticity and reduced vibratory sensation, normal life span SCA9 Not assigned - SCA10 (autosomal dominant type 10) 22q13, > 800 ATTCT, noncoding, Ataxin10 Gait ataxia, dysarthria, nystagmus, partial complex and generalized motor seizures [bcm.edu]

  […] prominent in SCA 7 & DRPLA Ataxia Truncal: SCA 1 ; 2 ; 6 ; 14 ; 28 ; 31 ; 36 Tremor Head or Hand: SCA 8, 12, 15-16, 19, 27 Palatal: SCA 20 Normal lifespan: SCA 6, 11 Eye 60 Slow saccades Early/prominent: SCA 2, 7 Late: SCA 1, 3, 28 Very rarely: SCA 6 Nystagmus [neuromuscular.wustl.edu]

• Apraxia

  Ataxia with oculomotor apraxia type 2 (AOA2) (autosomal recessive); Le Ber et al 2004 SETX, Senataxin, linked to 9q34 Ataxia with later onset than AOA1, may be associated with oculomotor apraxia, elevated AFP, CK, and gamma globulin levels. [bcm.edu]

  […] caused by mutations in ATM Ataxia with vitamin E deficiency (AVED), caused by mutations in TTPA Ataxia with oculomotor apraxia type 1 (AOA1) caused by mutations in APTX Ataxia with oculomotor apraxia type 2 (AOA2) caused by mutations in SETX POLG (polymerase [centogene.com]

  Ataxia telangiectasia–like disorders This group includes the following disorders: ataxia with oculomotor apraxia type 1 (AOA1), ataxia with oculomotor apraxia type 2 (AOA2), and ARSACS. [45] Ataxia with oculomotor apraxia type I Gene, inheritance, and [emedicine.medscape.com]

  Very rarely: SCA 6 Nystagmus Downbeat: SCA 6 ; EA 2 Head-shaking: SCA 6 Gaze evoked: SCA 1, 3, 6 ; Not 2 Vertical eye movements abnormal: SCA 6 ; 26 ; 30 ; 37 Maculopathy (Visual loss): SCA 7 Pseudoexophthalmos: SCA 1, 2, 3 Ptosis: SCA 7, 28 Oculomotor apraxia [neuromuscular.wustl.edu]

  polyneuropathy, telangiectasia Yes Huh et al. [ 57 ] Early onset ataxia, oculomotor apraxia, telangiectasia Yes Song et al. [ 58 ] Early onset ataxia, frequent infections, telangiectasia No Kang et al. [ 59 ] Early onset ataxia, oculomotor apraxia, [e-jmd.org]

• 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]

• Poor Coordination

  It is characterized by episodes of poor coordination and balance (ataxia). [diseaseinfosearch.org]

  Symptoms Edit Spinocerebellar ataxia (SCA) is one of a group of genetic disorders characterized by slowly progressive incoordination of gait and often associated with poor coordination of hands, speech, and eye movements. [psychology.wikia.com]

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

  coordination of hands, speech, and eye movements. [en.wikipedia.org]

  The hereditary ataxias including cerebellar ataxias, episodic ataxias and spinocerebellar ataxias are a group of genetic disorders characterized by slowly progressive incoordination of gait and often associated with poor coordination of hands, speech, [blueprintgenetics.com]

• Hyporeflexia

  dementia SCA22 (one Chinese family) 1q21-q23 Chinese family, age at onset 10-46, gait ataxia, dysarthria, hyporeflexia, slowly progressive pure cerebellar ataxia and atrophy; might be allelic with SCA19 SCA23 (one Dutch family) 20p13-p12.3 Ataxia, decreased [bcm.edu]

  Postural and resting tremor Rigidity Cognitive impairment Cerebellar atrophy Spinocerebellar ataxia 22 See the list below: Clinical features Slowly progressive Gait and limb ataxia Hyporeflexia Dysarthria with scanning speech and dysphagia Intermittent [emedicine.medscape.com]

  Hyporeflexia or areflexia is common. The disorder is progressive with loss of independent mobility by the third decade. Brain and spinal cord MRI imaging reveals cerebellar atrophy of the folia and vermis. [disorders.eyes.arizona.edu]

  Examples of Autosomal Recessive Hereditary Ataxias: Clinical Features Disease Name Population Frequency Onset (Range in Years) Duration (Years) Distinguishing Features Friedreich ataxia (FRDA) 1-2/50,000 1st - 2nd decade (4-40) 10 - 30 Hyporeflexia, Babinski [slideshare.net]

  SCA2 differs clinically from other types of SCAs because of the slow saccade and hyporeflexia [ 22 ]. SCA2 may present parkinsonism or amyotrophic lateral sclerosis [ 23, 24 ], and cognitive impairment has also been reported for this subtype. [e-jmd.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]