Spinocerebellar ataxias (SCAs) are a group of hereditary ataxias that often don't begin until adulthood, affecting people from the age of 25 up to 80, depending on the type of SCA. Occasionally, some types of SCA begin in childhood. The symptoms vary depending on the type of SCA.
Disease definition. Early onset cerebellar ataxia with retained reflexes (EOCARR) or Harding ataxia is a cerebellar ataxia characterized by the progressive association of a cerebellar and pyramidal syndrome with progressive cerebellar ataxia, brisk tendon reflexes, and sometimes profound sensory loss.
Progression over weeks to months is associated with paraneoplastic disorders; anti-glutamic acid decarboxylase (GAD)-antibody syndrome; steroidresponsive encephalopa thy and ataxia (SREAT or Hashimoto's encephalopathy); gluten ataxia in Celiac disease (GA); vitamin deficiency states [e.g. ataxia with vitamin E ...
In paraneoplastic cerebellar degeneration, the average age of onset is 50 years, with females affected more often than males.
Acute cerebellar ataxia in children, particularly younger than age 3, may occur several days or weeks after an illness caused by a virus. Viral infections that may cause this include chickenpox, Coxsackie disease, Epstein-Barr, echovirus, among others.
The age at onset was 52.83 years. The third group was composed of 18 patients with a cerebellar-plus presentation similar to patients previously reported as sporadic examples of olivopontocerebellar atrophy (OPCA; mean age at onset 45.22 years).
The symptoms of Friedreich's ataxia usually get gradually worse over many years. People with the condition tend to have a shorter life expectancy than normal. Many people live until at least their 30s, and some can live into their 60s or beyond.
Even in families where hereditary ataxia has presented in multiple generations, patients may struggle for an accurate diagnosis because the disease can be mistaken for other movement disorders, such as multiple sclerosis or amyotrophic lateral sclerosis.
Life expectancy is generally shorter than normal for people with hereditary ataxia, although some people can live well into their 50s, 60s or beyond. In more severe cases, the condition can be fatal in childhood or early adulthood. For acquired ataxia, the outlook depends on the underlying cause.
Cerebellar dysfunction causes balance problems and gait disorders along with difficulties in coordination resulting in ataxia, uncoordinated movements, imbalance, speech problems(dysarthria), visual problems (nystagmus) and vertigo as a part of the vestibulocerebellar system.
In general, life expectancy is shorter than normal for those with Cerebellar Degenerative Ataxia, although many patients live well into their 50s or even their 60s.
Cerebellum and brainstem
Ataxia usually results from damage to the part of the brain that controls muscle coordination (cerebellum) or its connections. Many conditions can cause ataxia, including alcohol misuse, stroke, tumor, brain degeneration, multiple sclerosis, certain medications and genetic disorders.
The duration of episodes may vary from seconds to days, and the frequency ranges from several episodes per day to one or two every few months. Between episodes, affected individuals may have no signs or symptoms. However, some continue to experience ataxia, which may worsen over time.
An MRI of the brain might help determine possible causes. An MRI can sometimes show shrinkage of the cerebellum and other brain structures in people with ataxia. It may also show other treatable findings, such as a blood clot or benign tumor.
The treatment for ataxia can vary depending on exactly what type of ataxia you have. It's sometimes possible to treat the underlying cause of the condition so it improves or stops getting worse, but in most cases this isn't possible and you'll have treatment to relieve your symptoms.
Ataxia is a common symptom of multiple sclerosis (MS) that affects about 80% of people with the disease. If you have primary progressive or secondary progressive MS, you may be more likely to develop ataxia at some point. Many people with MS have only mild ataxia symptoms.
Stress is the most common trigger among episodic neurologic disorders. In episodic ataxia type 2 (EA2), physical or emotional stress causes episodes of severe motor dysfunction that manifest as ataxia and dystonia.
In children, the most common cause of acute cerebellar ataxia is a recent infection with bacteria or a virus. The infection can cause the cerebellum to swell, affecting the child's balance and other functions. In most cases, the symptoms go away within 30 days .
In some instances, like cerebellar inflammation caused by a viral infection, the condition will resolve on its own over time. Other causes of cerebellar ataxia may require surgery or medication. Physical, occupational, and speech therapies may be recommended if the underlying condition cannot be identified or treated.
People diagnosed with ataxia lose muscle control in their arms and legs, which may lead to a lack of balance, coordination, and trouble walking. Ataxia may affect the fingers, hands, arms, legs, body, speech, and even eye movements.
It can be caused by a variety of conditions including traumatic brain injury, cerebral palsy, and stroke. Survivors with ataxia may have difficulty walking or struggle with fine motor coordination, speech, and/or swallowing.
SCA is a subset of hereditary cerebellar ataxia and is a rare disease. To date, more than 40 distinct genetic SCAs have been identified which are classified according to the genetic loci in order of identification. SCA1 was the first SCA described and then further subtypes are identified sequentially.
Genetic testing involves taking a sample of blood and testing the DNA in it for any genetic mutation known to cause ataxia. Currently, tests can detect the mutations responsible for Friedreich's ataxia, ataxia-telangiectasia and most of the spinocerebellar ataxias.
Symptoms and Signs of Ataxias
Individuals with cerebellar disorders report difficulty with walking and balance, falls, dizziness, blurred or double vision, slurred speech, clumsiness, poor penmanship, knocking objects over when reaching for them, and tremors.