Presentation
Spino-cerebellar dysfunction presents with a wide-based "drunken sailor" gait, characterised by uncertain start and stop, lateral deviations, and unequal steps. [psychology.wikia.com]
Clinical presentation Olivopontocerebellar degeneration presents predominantly with cerebellar and brainstem symptoms and signs. Typically ataxia and bulbar dysfunction are pronounced. [radiopaedia.org]
Clinically it presents with appendicular and truncal ataxia, dysarthria, and nystagmus. [omicsonline.org]
Reduced diffusivity and abnormal MR spectroscopy peaks can also be present. [ajnr.org]
Many different types of inherited ataxias are presently known. Examples include Machado-Joseph disease, ataxia-telangiectasia, and Friedreich ataxia. [encyclopedia.com]
Entire Body System
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Falling
The disability of ataxia may be reduced by physical therapy, including exercises, along with leg braces or shoe splints, if foot alignment has been affected; a cane or walker is often used in the effort to prevent falls. [psychology.wikia.com]
When TP started seeing me he had been falling and had sustained multiple different fractures of his feet and ankles over the past 2-3 yrs. He found it was more difficult to walk on uneven surfaces and keep his balance. [acupuncturedoctor.net]
Other clinical signs were stumbling, staggering, intention tremor, bunny hopping, muscle spasms, as well as balance loss and falling. SDCA is a progressive disease and the affected dogs are usually euthanised after 12 weeks at the latest. [shop.labogen.com]
As a result of this gait impairment, falling is a concern in patients with ataxia. [en.wikipedia.org]
I have slurred speech, frequent weak spells, weak spells in my voice, depressed most of the time, sexual impotency, occasional falling or stumbling,occasional tremors in the left hand,lack of balance and coordination, numbness in right leg after standing [medhelp.org]
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Difficulty Walking
Common symptoms of Ataxia are lack of coordination, slurred speech, trouble eating and swallowing, eye movement abnormalities, deterioration of fine motor skills, difficulty walking, gait abnormalities, tremors, and heart problems. [ataxia.org]
Difficulty walking, loss of muscle control, loss of fine-movement coordination of hands, and absence of tendon reflexes are the main symptoms observed in this progressive and crippling condition. [encyclopedia.com]
Diagnosis Visit your doctor if you or your child have unexplained symptoms such as balance and co-ordination problems or difficulty walking, talking or swallowing. [your.md]
In addition, the Extended Disability Status Scale was used; this scale may be insensitive to gait changes in patients with difficulty walking. [movementdisorders.org]
Neurologic
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Ataxia
In several of the hereditary ataxias, the causative gene plays an important role in DNA repair: ataxia telangiectasia and ataxia telangiectasia-like disorder, and ataxia with oculomotor apraxia type I and II. [ncbi.nlm.nih.gov]
The authors investigated the presence of antiganglioside antibodies in 22 patients with hereditary and nonhereditary ataxia and found 64% reactive in a novel agglutination test. Received July 22, 2002. Accepted January 9, 2003. [neurology.org]
Some of the specific types of genetic ataxia include: Ataxia telangiectasia Ataxia with oculomotor apraxia Dominant spastic ataxias Dominant spinocerebellar ataxias ( SCA ) Episodic ataxia Friedreich's ataxia Recessive spastic ataxias Wilson’s disease [webmd.com]
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]
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Cerebellar Ataxia
[…] of physical therapy for cerebellar ataxia. [intechopen.com]
This article specifically focuses on acquired causes of cerebellar ataxia. A separate complementary article discusses common hereditary causes of cerebellar ataxia. [els.net]
metabolic disorders ( E70 - E88 ) G11.0 Congenital nonprogressive ataxia G11.1 Early-onset cerebellar ataxia Inclusion term(s): Early-onset cerebellar ataxia with essential tremor Early-onset cerebellar ataxia with myoclonus [Hunt's ataxia] Early-onset [icd10coded.com]
Autosomal dominant cerebellar ataxia type II represents cerebellar ataxia with pigmentary retinal degeneration. Autosomal dominant cerebellar ataxia type III produces relatively pure cerebellar signs. [medlink.com]
ataxia associated with another disorder Secondary cerebellar ataxia ICD-10-CM G32.81 is grouped within Diagnostic Related Group(s) (MS-DRG v 36.0): 058 Multiple sclerosis and cerebellar ataxia with mcc 059 Multiple sclerosis and cerebellar ataxia with [icd10data.com]
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Tremor
Rhythmic, alternating, oscillatory movement of a limb as it approaches a target (intention tremor) or of proximal musculature when fixed posture or weight bearing is attempted (postural tremor) Such malformations are almost always sporadic, often occurring [msdmanuals.com]
The most characteristic symptom of cerebellar degeneration is a wide-based, unsteady, lurching walk, often accompanied by a back and forth tremor in the trunk of the body. [ninds.nih.gov]
In general there is wide legged and unsteady walk with tremors in the trunk of the body and jerky movements of the arms or legs. Patients may also exhibit slow and slurred speech; nystagmus is also a feature commonly seen. [kenhub.com]
Cerebellar degeneration is primarily characterized by a wide-legged, unsteady, lurching walk that is usually accompanied by a back and forth tremor in the trunk of the body. [rarediseases.info.nih.gov]
I have slurred speech, frequent weak spells, weak spells in my voice, depressed most of the time, sexual impotency, occasional falling or stumbling,occasional tremors in the left hand,lack of balance and coordination, numbness in right leg after standing [medhelp.org]
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Nystagmus
[…] irregular vertical nystagmus. [collections.lib.utah.edu]
Additional features of MSA-c include dysphonia, dysphagia and other cerebellar features including limb ataxia and occulomotor dysfunction (sustained gaze-evoked nystagmus, positional down-beat nystagmus). [orpha.net]
Other symptoms may include slow, unsteady and jerky movement of the arms or legs, slowed and slurred speech, and nystagmus -- rapid, small movements of the eyes. [ninds.nih.gov]
Patients may also exhibit slow and slurred speech; nystagmus is also a feature commonly seen. More specific symptoms reflect the region of the cerebellum that is degenerating. [kenhub.com]
Signs and symptoms of cerebellar degeneration may include a wide-based, uncoordinated walk; a back and forth tremor in the trunk of the body; uncoordinated movements of the arms and legs; slow and slurred speech; and nystagmus. [rarediseases.info.nih.gov]
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Cerebellar Disease
If no acquired cause of ataxia is found, or if the history suggests an inherited cerebellar disease, specific genetic testing is indicated. Examples include blood testing for Friedreich’s ataxia or any of the testable spinocerebellar ataxias (SCAs). [hopkinsmedicine.org]
disease Hereditary cerebellar syndrome Abbreviations used here: NEC Not elsewhere classifiable This abbreviation in the Tabular List represents “other specified”. [icd10coded.com]
Here we set out to briefly describe the clinical/anatomical correlates of cerebellar disease and to provide a broad differential diagnosis for patients who present with cerebellar ataxia. [els.net]
An attempt to classify cerebellar disease, with a note on Marie's hereditary cerebellar ataxia. Brain 30, 545–567 (1907b) Google Scholar 14. [link.springer.com]
Workup
MR
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MRI Shows Cerebellar Atrophy
In many of them, magnetic resonance imaging (MRI) shows cerebellar atrophy. The most prominent exception to this is Friedreich's ataxia, where MRI shows normal cerebellar volume, but sometimes spinal cord atrophy. [ncbi.nlm.nih.gov]
Treatment
Efficacy and safety of modafinil (Provigil) for the treatment of fatigue in multiple sclerosis: a two centre phase 2 study. J Neurol Neurosurg Psychiatry 2002:72:l79-l83. [books.google.com]
Few of these disorders are amenable to effective treatment, the most important of these being vitamin E-responsive ataxia. The autosomal dominant spinocerebellar ataxias are rare in childhood. [ncbi.nlm.nih.gov]
To identify relevant publications, a PubMed search using the terms “treatments of cerebellar ataxias,” “degenerative cerebellar ataxia treatment,” and “treatment of hereditary cerebellar ataxia” was conducted. [movementdisorders.org]
Rosanne Sant tried to find the best treatment for Ataxia, but Australia had little to offer in this regard. She then sought for treatment abroad and found out about us. [globalstemcells.com]
Prognosis
Prognosis Prognosis is highly variable between the different types but improvement is unlikely. [patient.info]
Prognosis The long-term outlook for people with cerebellar degeneration varies depending on its underlying cause. x Prognosis The long-term outlook for people with cerebellar degeneration varies depending on its underlying cause. [ninds.nih.gov]
Prognosis of patients with cancer presenting with PNS is better compared to those without PNS due to detection of cancer at early stage although the prognosis may be bad due to severe neurological morbidity [ 4 ]. [omicsonline.org]
Biventral lobule of the cerebellum Management Management and prognosis of cerebellar degeneration and cerebellar atrophyare dependent upon the underlying cause of the damage. [kenhub.com]
These evaluations may demonstrate that the patient requires rehabilitation following discharge, and, depending upon the prognosis, even long-term placement in a skilled nursing facility. F. Prognosis and Patient Counseling. [clinicaladvisor.com]
Etiology
Certain conditions have both an underlying etiology and multiple body system manifestations due to the underlying etiology. [icd10coded.com]
Etiology The exact etiology of MSC-c is unknown while the presence of cytoplasmic aggregates of α-synuclein, primarily in the oligodendroglia, in combination with predominant neurodegeneration of the olivopontocerebellar structures are pathological hallmark [orpha.net]
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]
Code First Code First Help Certain conditions have both an underlying etiology and multiple body system manifestations due to the underlying etiology. [icd10data.com]
CCA was defined as an SCA of unknown etiology with imaging evidence of isolated cerebellar atrophy. [movementdisorders.org]
Epidemiology
Consequently, they are often approached together in epidemiological studies. [karger.com]
For a discussion of epidemiology and pathology, please refer to: multiple systemic atrophy (MSA). Clinical presentation Olivopontocerebellar degeneration presents predominantly with cerebellar and brainstem symptoms and signs. [radiopaedia.org]
Summary Epidemiology MSA-c is observed predominantly in patients from Asia. [orpha.net]
Epidemiology Prevalence of ADCAs has been estimated as between 0.3 to 2 per 100,000 [ 7 ]. [patient.info]
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]
Pathophysiology
• 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]
[…] and body sway during the 2-week titration period as well as the 8-week reassessment. [31] Insulin-Like Growth Factor Insulin-like growth factor-1 (IGF-1) acts as a neuromodulator in the CNS. [32] Disturbances in CNS signaling pathways may produce the pathophysiological [movementdisorders.org]
Pathophysiology of this syndrome is not entirely understood but onconeural antibodies suggest that it is an immune mediated state in which body may produce antibodies against tumor cells and these antibodies cross react with cerebellar tissue and destroy [omicsonline.org]
"Cerebellar ataxia: Pathophysiology and rehabilitation". Clinical Rehabilitation. 25 (3): 195–216. doi : 10.1177/0269215510382495. PMID 21321055. "SCA2 information sheet from www.ataxia.org" (PDF). Archived from the original (PDF) on 2012-07-12. [en.wikipedia.org]
Prevention
Prevention. Problem solving. Calculation of genetic risk. 1. [en.medicine-guidebook.com]
Research is being conducted on cerebellar and spinocerebellar degeneration, including work aimed at finding the cause(s) of ataxias and ways to treat, cure, and ultimately prevent them, according to the National Institute of Neurological Disorders and [columbianeurology.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]
The disability of ataxia may be reduced by physical therapy, including exercises, along with leg braces or shoe splints, if foot alignment has been affected; a cane or walker is often used in the effort to prevent falls. [psychology.wikia.com]
Physiotherapy If you have ataxia, physiotherapy can help you maintain the use of your arms and legs, and prevent your muscles weakening or getting stuck in one position (contractures). [nhsdirect.wales.nhs.uk]