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
- 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]
Acquired ataxia Acquired ataxia can have a wide range of potential causes, including: severe head injury – after a car crash or fall, for example bacterial brain infection, such as meningitis or encephalitis (an infection of the brain itself) viral infection [nhs.uk]
- Fatigue
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]
Fatigue Many people with neurological conditions such as ataxia report feeling extremely tired and lethargic (lacking in energy). [nhsdirect.wales.nhs.uk]
Signs and symptoms of ataxia may be worsened by: Fatigue Alcohol use Anxiety or stress Medications that affect the brain, such as excessive doses of medicine prescribed for insomnia, anxiety or mood disorders. [hopkinsmedicine.org]
Symptoms of cerebellar ataxia include: Behavior or personality changes Changes in your voice Dizziness Fatigue Headaches Low muscle tone Muscle tremors Slurred speech Trouble walking Wide gait Sensory Ataxia Sensory ataxia is the result of damage to nerves [webmd.com]
- 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]
Musculoskeletal
- Muscle Weakness
Open access peer-reviewed chapter By Akiyoshi Matsugi Submitted: October 2nd 2016 Reviewed: January 27th 2017 Published: May 10th 2017 DOI: 10.5772/67649 Abstract Ataxia, the incoordination and balance dysfunction in movements without muscle weakness, [intechopen.com]
Symptoms such as tremor, stiffness, spasticity, sleep disorders, muscle weakness, depression (or frustration, sadness, and anger) may be addressed with targeted physical therapy, speech therapy, medications, and counseling. [medicalnewstoday.com]
Vitamin B12 deficiency causes sensory ataxia in addition to muscle weakness. Treatment Of all the movement disorders, ataxia is among the most resistant to medical therapy. Clonazepam may help tremor and balance problems. [bcm.edu]
For example, muscle weakness and decreased endurance could lead to increasing fatigue and poorer movement patterns. There are several assessment tools available to therapists and health care professionals working with patients with ataxia. [en.wikipedia.org]
Neurologic
- 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]
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]
Autosomal dominant ataxias include the spinocerebellar ataxias and episodic ataxias. Spinocerebellar ataxias (SCA) represent the most common form of chronic progressive ataxia in adults. [bcm.edu]
- 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]
ataxia with essential tremor Early-onset cerebellar ataxia with myoclonus [Hunt's ataxia] Early-onset cerebellar ataxia with retained tendon reflexes Friedreich's ataxia (autosomal recessive) X-linked recessive spinocerebellar ataxia G11.2 Late-onset [icd10coded.com]
Some clusters of certain types of autosomal dominant cerebellar ataxia reach a prevalence of 5 per 100,000. [1] References [ edit ] ^ a b c d e "Autosomal Dominant Cerebellar Ataxia information page. Patient | Patient". Patient. [en.wikipedia.org]
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]
- 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]
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]
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]
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]
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]
- 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]
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]
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]
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]
- Dysarthria
They are characterised generally by a slow progression of ataxia of gait, stance and limbs and by dysarthria with or without oculomotor dysfunction due to cerebellar degeneration. [patient.info]
Neurological Examination: Mentally retarded Patient sitting in a wheelchair unable to communicate because of severe spastic ataxic dysarthria. [collections.lib.utah.edu]
In Friedreich ataxia, gait unsteadiness begins between ages 5 and 15; it is followed by upper-extremity ataxia, dysarthria, and paresis, particularly of the lower extremities. Mental function often declines. Tremor, if present, is slight. [msdmanuals.com]
Speech and language therapy A speech and language therapist will be able to help with two of the most common symptoms of ataxia – slurred speech (dysarthria) and swallowing problems (dysphagia). [your.md]
Clinically it presents with appendicular and truncal ataxia, dysarthria, and nystagmus. [omicsonline.org]
Workup
MR
- 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
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]
Other disorders that may contribute to the cerebellar degeneration may have treatment options that ease symptoms. × Treatment There is no cure for hereditary forms of cerebellar degeneration. [ninds.nih.gov]
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]
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]
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 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]
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]
[…] after the disease is underway. [9] There is no effective treatments that could alter the progression of this disease, therefore care is given, like occupational and physical therapy for gait dysfunction and speech therapy. [ medical citation needed ] Epidemiology [en.wikipedia.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]