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

Strabismus and nystagmus are present in a significant proportion of patients. Optokinetic nystagmus is impaired. [disorders.eyes.arizona.edu]

SCA3 type 2 (MJD Type 2, see this term) presents in middle adulthood with ataxia, spasticity, and dystonia. [orpha.net]

The purpose of this article is to present a case study and review of SCA-7. [journals.lww.com]

The objective of this vignette is to describe the heterogeneous group of hereditary ataxias and to discuss their diverse clinical presentations, imaging characteristics, and diagnostic challenges. [ajnr.org]

• Hearing Impairment

  impairment Deafness Hearing defect [ more ] 0000365 Impaired vibration sensation in the lower limbs Decreased lower limb vibratory sense Decreased vibratory sense in lower limbs Decreased vibratory sense in the lower extremities Decreased vibratory sense [rarediseases.info.nih.gov]

  Bomont P, Watanabe M, Gershoni-Barush R, Shizuka M, Tanaka M, Sugano J, Guiraud-Chaumeil C, Koenig M (2000) Homozygosity mapping of spinocerebellar ataxia with cerebellar atrophy and peripheral neuropathy to 9q33–34, and with hearing impairment and optic [link.springer.com]

  impairment, see age-related hearing loss age-related hearing loss age-related macular degeneration age-related maculopathy, see age-related macular degeneration agenesis of cerebellar vermis, see Joubert syndrome agenesis of corpus callosum with chorioretinal [mygenomics.com]

  Bomont P, Watanabe M, Gershoni-Barush R, Shizuka M, Tanaka M, Sugano J, Guiraud-Chaumeil C, Koenig M: Homozygosity mapping of spinocerebellar ataxia with cerebellar atrophy and peripheral neuropathy to 9q33→q34, and with hearing impairment and optic atrophy [karger.com]

  There were no complaints of cognitive impairment or of visual, hearing, or swallowing problems nor did he have weakness or sensory disturbances in his extremities. [jmg.bmj.com]

• Gait Ataxia

  > 800 ATTCT, noncoding, Ataxin10 Gait ataxia, dysarthria, nystagmus, partial complex and generalized motor seizures, tremor, spasticity, Mexican families SCA11 (autosomal dominant type 11) 15q14-q21.3 Slowly progressive gait and extremity ataxia, dysarthria [bcm.edu]

  SCA6 ataxia is caused by a mutation on at chromosome 19. 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]

  Gait ataxia presents itself as a highly variable type of movement pattern in which the individual has difficulties in maintaining postural balance while walking. Individuals with gait ataxia appear to walk in a “drunk-like” state. [physio-pedia.com]

  MalaCards based summary : Spinocerebellar Ataxia, Autosomal Recessive 2, is also known as scar2, and has symptoms including muscle spasticity, tremor and gait ataxia. [malacards.org]

  Title Other Names: SCAR3; Spinocerebellar ataxia with blindness and deafness; Autosomal recessive cerebellar ataxia - blindness - deafness; SCAR3; Spinocerebellar ataxia with blindness and deafness; Autosomal recessive cerebellar ataxia - blindness - [rarediseases.info.nih.gov]

• Poor Coordination

  Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. [uniprot.org]

  The prominent clinical feature includes progressive incoordination of gait and poor coordination of hands, eyes and speech. Patients also have delayed psychomotor development, spasticity and intellectual disability. [cags.org.ae]

  In cerebelloparenchymal disorder III, cerebellar ataxia is congenital (non-progressive) and characterized by cerebellar symptoms such as incoordination of gait often associated with poor coordination of hands, speech and eye movements. [malacards.org]

  A sign of a number of neurological disorders, ataxia can cause: Poor coordination Unsteady walk and a tendency to stumble Difficulty with fine motor tasks, such as eating, writing or buttoning a shirt Change in speech Involuntary back-and-forth eye movements [mayoclinic.org]

  The hereditary ataxias are a group of genetic disorders characterized by slowly progressive incoordination of gait and often associated with poor coordination of hands, speech, and eye movements. Frequently, atrophy of the cerebellum occurs. [flybase.org]

• Vertigo

  The crisis starts with vertigo and ataxia, and is often associated with involuntary eye movements. This condition is treatable with daily administration of acetozolamide. [encyclopedia.com]

  People with this type of ataxia share many characteristic symptoms including: frequent falls due to poor balance imprecise hand coordination postural or kinetic tremor of extremities or trunk dysarthria dysphasia vertigo diplopia lower extremity tendon [en.wikipedia.org]

  When the nerves in your vestibular system wear away, you can have the following problems: Blurred vision and other eye issues Nausea and vomiting Problems standing and sitting Staggering when you walk Trouble walking in a straight line Vertigo, or dizziness [webmd.com]

  Diamox, 4 aminopyridinesame gene as SCA -6 but nature of mutation differs EA type3 Episodic vestibulo-cerebellar ataxia, Defective smooth pursuit, gaze evoked nystagmus, vertigo EA type4 Vestibular ataxia, vertigo, tinnitis, interictal myokymia - Diamox [slideshare.net]

  You might have dizziness (vertigo), fatigue and muscle weakness during your episodes. In some cases, symptoms resolve in later life. Episodic ataxia doesn't shorten life span, and symptoms might respond to medication. [mayoclinic.org]

• Hand Tremor

  Additional features may include hand tremor, dysarthria, hyperreflexia, and saccadic eye movements (summary by {1:Guo et al., 2014}). [diseaseinfosearch.org]

  19q13.4, Protein kinase C γ Pure ataxia in late-onset (>39), myoclonus and ataxia in young-onset SCA15 (one Australian family) 3p24.2-pter (6q27 with CAG repeats) Pure ataxia, slowly progressive SCA16 (one Japanese family) 8q22.1-24.1 Ataxia, head and hand [bcm.edu]

  (1-30) Myoclonus (a sudden twitching of muscles or parts of muscles, without any rhythm or pattern, 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) [wikidoc.org]

  (1–30) Myoclonus (a sudden twitching of muscles or parts of muscles, without any rhythm or pattern, 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) [ipfs.io]

  (12–42) Decades (1–30) Myoclonus (a sudden twitching of muscles or parts of muscles, without any rhythm or pattern, occurring in various brain disorders) 19q SCA16 ( ITPR1 ) 39 yrs (20–66) 1–40 years Head and hand tremor 8q SCA17 ( TBP ) CAG repeat, [en.wikipedia.org]

• 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]

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]

• Acanthocytes

  E, A, Lipoprotein in ABL ( acanthocytes with absence apo-B lipoproteins • AT- ↑ AFP, ↓immunoglobulins • AOA1- ↑Chol, ↓ Alb • AOA2 - ↓ AFP • Late onset ataxia- paraneoplastic antibodies, antigliadin antibodies 55. [slideshare.net]

  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]

Most PNS disorders are secondary to other system disorders and may be responsive to treatment of the primary disease. [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]

Treatment Treatment Options: There is no beneficial treatment for the neurological disease but physical therapy, speech therapy, and sometimes special education can be helpful. [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]

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]

Prognosis Prognosis is highly variable between the different types but improvement is unlikely. [patient.info]

(Outcomes/Resolutions) The prognosis of Autosomal Recessive Spinocerebellar Ataxia 9 is dependent upon the severity of the signs and symptoms and associated complications, if any Individuals with mild conditions have better prognosis than those with severe [dovemed.com]

Prognosis Prognosis is poor but patients have been reported to survive for decades after onset of symptoms. [orpha.net]

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]

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, cerebellar ataxia with retinal degeneration). [medlink.com]

Etiology The disease is associated with a CAG repeat expansion mutation in the ATXN3 gene (14q21) with anticipation phenomenon. The normal repeat length is 13-41 whereas repeat lengths causing SCA3 are greater than 56. [orpha.net]

(Etiology) Autosomal Recessive Spinocerebellar Ataxia 9 is caused by ubiquinone deficiency Mutations in the ADCK3 / CABC1 gene have been detected in affected individuals. [dovemed.com]

The etiology of ataxia can be divided into 3 main categories: acquired, sporadic, and hereditary. 1, 2 Hereditary ataxias are one of the largest groups of hereditary progressive neurodegenerative diseases with an estimated prevalence for all ataxias of [ajnr.org]

[…] 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]

Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management. [disorders.eyes.arizona.edu]

Summary Epidemiology Prevalence is estimated to be 1-2 in 100,000 with significant geographical and ethnic variations: the highest prevalence has been found in the Azores (Flores Island (1/239)), intermediate prevalence rates in Portugal, Germany, the [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]

Mori M, Adachi Y, Kusumi M, Nakashima K: A genetic epidemiological study of spinocerebellar ataxias in Tottori prefecture, Japan. Neuroepidemiol 20:144–149 (2001). [karger.com]

Academic clinicians, translational researchers and basic scientists are brought together to connect experimental findings made in different animal models to the clinical features, pathophysiology and treatment of human movement disorders. [books.google.ro]

• 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]

The pathophysiology of nearly half of the autosomal dominant ataxias is secondary to trinucleotide or codon repeat expansions. 5 The most common trinucleotide repeat expansions are associated with polyglutamine repeats (SCA1, SCA2, SCA3, SCA6, and SCA7 [ajnr.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]

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

How can Autosomal Recessive Spinocerebellar Ataxia 9 be Prevented? Autosomal Recessive Spinocerebellar Ataxia 9 may not be preventable, since it is a genetic disorder. [dovemed.com]

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]

This DNA vaccine has the potential to be a safe and effective therapy to prevent Alzheimer disease. He described Machado-Joseph disease (MJD), an autosomal dominant ataxia, with William Nyhan, M.D. Ph.D, in 1976, for the first time. [books.google.ro]