The prognosis of episodic ataxia, type 2 may include the duration of episodic ataxia, type 2, chances of complications of episodic ataxia, type 2, probable outcomes, prospects for recovery, recovery period for episodic ataxia, type 2, survival rates, death rates, and other outcome possibilities in the overall prognosis of episodic ataxia, type. Patients typically present with bouts of ataxia lasting less than 30 minutes and occurring once or twice daily. Episodic ataxia ea is an autosomal dominant disorder characterized by sporadic bouts of. These include ataxiaocular apraxia type 1, ataxiaocular apraxia type 2, and ataxiatelangiectasialike disorder atld. This study aims to determine whether 4aminopyridine 4ap can reduce attacks of ataxia in patients with episodic ataxia type 2 ea2, a rare but often debilitating condition. These symptoms last from hours to days, in contrast with ea1, which lasts from seconds to minutes.
The various symptoms of ea are caused by dysfunction of differing areas. Episodic ataxia is uncommon, affecting less than 1 in 100,000 people. I believed i had episodic ataxia type 2 ea2 from what i read. Spells are characterized by ataxia, which may be accompanied by vertigo, diplopia, dysarthria, and generalized weakness. A rare genetic disorder characterized by episodes of incoordination and unsteadiness as well as nystagmus rapid, involuntary eye movements. Spinocerebellar ataxia 2 sca2 is a progressive disorder that causes. Its characterized by episodes of ataxia that last hours. This test covers the most common causes for episodic ataxia, which is a variable condition characterized by intermittent attacks of ataxia and vertigo. Ea5 this type of episodic ataxia is caused by sequence changes in a gene called cacnb4. By linkage analysis of markers flanking the ea1 and ea2 loci 12p and 19p, respectively, steckley et al. Episodic ataxia, type 2 symptoms, diagnosis, treatments. Spinocerebellar ataxia type 2 sca2 is a condition characterized by progressive problems with movement. Spinocerebellar ataxia 2 genetic and rare diseases.
Episodic ataxia is a rare and unusual type of hereditary ataxia where someone experiences episodes of ataxia, but the rest of the time they have no or only mild symptoms. Like ea1, people with ea2 usually first feel symptoms in adolescence. Episodic ataxia type 2 ea2 is characterized by longer episodes of ataxia hours with interictal nystagmus. It manifests with recurrent disabling attacks of imbalance, vertigo, and ataxia, and can be provoked by physical exertion or emotional stress. Acute cerebellar ataxia aca is a disorder that occurs when the cerebellum becomes inflamed or damaged. Episodic ataxia type 2 is caused by a mutation in a calcium channel. As with ea1, episodes are commonly triggered by physical and emotional stress. Only types 1 and 2 have been identified in more than one family, and type 2 is by far the most common form of the condition. However, these episodes occur less frequently than with. Other forms of ea are extremely rare and reports have mostly come up with case studies involving ea type 1 and type 2. Episodic ataxia type 1 mutations in the kcna1 gene impair the fast inactivation properties of the human potassium channels kv1. This same calcium channel is also mutated in other diseases such as spinocerebellar ataxia type 6 and familial hemiplegic migraine. About 50% of individuals with ea2 have migraine headaches. During an episode, someone with episodic ataxia may experience.
Overview and types of episodic ataxia verywell health. The symptoms can last for several seconds, minutes or hours. Episodic ataxia type 1 and 2 familial periodic ataxiavertigo. Jen j, kim gw, baloh rw 2004 clinical spectrum of episodic ataxia type 2 neurology 62. Episodic ataxia type 2 ea2 is characterized by longer episodes of ataxia hours with interictal nystagmus and mildly progressive baseline ataxia baloh et al. Episodic ataxia type3 ea3 is similar to ea1 but often also presents with tinnitus and vertigo. The prognosis is usually bad with survival rates less than a few years after onset. The types are distinguished by their pattern of signs and symptoms, age of onset, length of attacks, and, when known, genetic cause. Ea2 may be particularly important because of its link to migraine associated vertigo see following, which is common and can have overlapping symptomatology. Missense cacna1a mutation causing episodic ataxia type 2.
By a genomewide screen of the family reported by steckley et al. Episodic ataxia type 2 ea 2 is a rare neurological disorder of autosomal dominant inheritance resulting from dysfunction of a voltagegated calcium channel. In all types of ea, the primarily noticed symptoms are impaired balance and coordination. The attacks can be dramatically responsive to acetazolamide. The episodic ataxias are a relatively rare group of conditions which, as their name suggests, tend to affect people in bouts or attacks of unsteadiness. Spinocerebellar ataxia type 6 sca6 is a rare, lateonset, autosomal dominant disorder, which, like other types of sca, is characterized by dysarthria, oculomotor disorders, peripheral neuropathy, and ataxia of the gait, stance, and limbs due to cerebellar dysfunction. Jouvenceau a, eunson lh, spauschus a, ramesh v, zuberi sm, kullmann dm, hanna mg 2001 human epilepsy associated with dysfunction of the brain pqtype calcium channel. At, but result from defects in genes other than atm. Ea2 is caused by lossoffunction mutations in the cacna1a gene, which encodes the. I would like to obtain information about episodic ataxia type 5. Episodic ataxia med ataxia center, university of minnesota. Onset is typically in childhood or early adolescence age range 232 years.
Nystagmus, a condition in which the eyes move repetitively and uncontrollably, can be present not only during but also between attacks. Episodic ataxia may be caused by a mutation in any of several genes and is inherited in an autosomal dominant manner. Episodic ataxia ea is a rare, disabling condition of autosomal dominant inheritance, but it is not a distinct clinical entity. Episodic ataxia type 2 ea2 is a disorder characterized by acute attacks of ataxia precipitated by stress, ethanol, and caffeine. Episodic ataxia type 2 ea2 is associated with attacks of severe vertigo and sometimes nausea and vomiting that last from hours to days. Ataxia is a lack of muscle coordination that can make speech and movement difficult.
Stress, exertion, alcohol and coffee may trigger the episodes which can last from hours to days. The charitys helpline number is 0845 644 0606 monday to thursday, 10. Episodic ataxia type 2 ea2 is characterized by paroxysmal attacks of ataxia, vertigo, and nausea typically lasting minutes to days in duration. In some cases, symptoms improve or go away on their own. Episodic ataxia type 2 ea2 is an autosomal dominant paroxysmal cerebellar ataxia. Synonyms are familial periodic ataxia or hereditary paroxysmal cerebellar ataxia. It provides information about a number of ataxia services that are available and is a useful resource for those whove recently been diagnosed with the condition. Type 2 episodic ataxia ea2 is characterized by acetazolamideresponsive attacks of ataxia with or without migraine. Attacks can be associated with dysarthria, diplopia, tinnitus, dystonia, hemiplegia, and headache. Episodic ataxia type 2 ea2 usually appears in childhood or early adulthood.
What is the prognosis of olivopontocerebellar atrophy opca. Treatment may include medication that reduces or eliminates symptoms. Some people with ea2 also have symptoms that are reminiscent of those other diseases. Examples of treatable ataxias include those due to deficiencies of vitamin e or coenzyme q10, and episodic ataxia type 2. This type of episodic ataxia has been described in 2 caucasian families from north carolina. I went on the internet searching for medical sites, case histories and more information. Episodic ataxia type 2 ea2 is a rare disorder presenting with paroxysmal vertigo and cerebellar dysfunction. Ataxia uk is a charity for people living with ataxia. My 44 year old son has been having serious ataxia episodes for a year. It may develop due to genetic factors, alcohol use, or injury. Episodic ataxia type 2 ea2 is associated with attacks of severe vertigo and sometimes. Prognosis the prognosis for a person with ataxia depends upon the type and nature of the disease. High prevalence of cacna1a truncations and broader clinical spectrum in episodic ataxia type 2.
Other symptoms during attacks include vertigo or dizziness, visual. Episodic ataxia is characterised as bouts or attacks of ataxia symptoms. Episodic ataxia genetic and rare diseases information. Episodic ataxia ea is a group of inherited disorders characterized by recurrent, discrete episodes of vertigo and ataxia variably associated with progressive ataxia. Episodic ataxia type 2 michael strupp, andreas zwergal, and thomas brandt department of neurology, university of munich, munich, germany summary. There seems to be little literature available online. He was recently given a dna test and the results show a heterozygous missense mutation of the cacnb4 gene. People with this condition initially experience problems with coordination and balance ataxia. Episodic ataxia type 1 and 2 familial periodic ataxia. I then found that the only neurologist in bc that has knowledge of ea2 works at ubc. Other early signs and symptoms of sca2 include additional movement problems, speech and swallowing difficulties, and weakness in the muscles that control eye movement ophthalmoplegia. Acetazolamide is effective in controlling or reducing the frequency and severity of attacks in most individuals. Ataxia as a result of trauma or infection may be a temporary condition, or leave some degree of permanent disability. Ea2 is known to be caused by mutations of the cacna1a gene on chromosome 19q.
There are several types, but type 2 are the most well understood, and they are called episodic ataxia type 1 and 2. In 20 my neurologist suggested i may have cerebellar ataxia and that theres no cure. Medication typically has minimal impact on slowing ataxias progression unless it is caused by nutritional deficiencies. Episodic ataxia type 2 ea2 is an autosomal dominant paroxysmal cerebellar ataxia, characterized by acetazolamideresponsive recurrent attacks of unsteadiness, lack of limb coordination, and dysarthria, often provoked by emotional or physical stress. Abstract this report describes the clinical features of a 29 year female presenting with a 3 years history of episodes of cerebellar ataxia, dysarthria and nystagmus. Episodic ataxia type 2 ea2 is an autosomal dominant calcium channelopathy caused by a mutation in cacna1a. Their symptoms, duration, severity, and triggers of ataxic. Episodic ataxia type 2 ea 2 is a rare neurological disorder of autosomal dominant inheritance resulting from dys. Spinocerebellar ataxia type 2 genetics home reference nih.
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