Spinocerebellar ataxia type 2 genetics home reference nih. I went on the internet searching for medical sites, case histories and more information. Jun 12, 2019 symptoms vary depending on the type and severity of ataxia. I then found that the only neurologist in bc that has knowledge of ea2 works at ubc. Primary episodic ataxias are autosomal dominant channelopathies that manifest as attacks of imbalance and incoordination. There are seven types recognised but the majority are due to two recognized entities. Ea 2 is known to be caused by mutations of the cacna1a gene on chromosome 19q.
A rare genetic disorder characterized by episodes of incoordination and unsteadiness as well as nystagmus rapid, involuntary eye movements. Treatment of episodic ataxia type 2 with the potassium. This means that episodic ataxia, type 2, or a subtype of episodic ataxia, type 2, affects less than 200,000 people in the us population. The attacks were characterized by unsteady gait, generalized weakness, and slurred speech. Initially two distinct phenotypes have been recognized. I have a rare progressive neurological disorder called episodic ataxia type 2, ea 2. The treatment for ataxia can vary depending on exact what type of ataxia you have. 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. Ataxia can be provoked by stress, startle, or heavy exertion such as exercise. Patient with spinocerebellar ataxia types 2 and 10 youtube.
The symptoms can last for several seconds, minutes or hours. About 50% of individuals with ea2 have migraine headaches. During an episode, someone with episodic ataxia may experience. Episodic ataxia med ataxia center, university of minnesota. Patients with ea2 may also present with progressive cerebellar atrophy, nystagmus, vertigo, visual disturbances and dysarthria. In a large family with this form of episodic ataxia, litt et al. Spells are characterized by ataxia, which may be accompanied by vertigo, diplopia, dysarthria, and generalized weakness. Several different drugs are reported to improve symptoms with ea1 and ea2, but. Feb 05, 2020 cerebellar ataxia and cerebellar degeneration are common to all types, but other signs and symptoms, as well as age of onset, differ depending on the specific gene mutation. This signs and symptoms information for episodic ataxia, type 2 has been gathered from various sources, may not be fully accurate, and may not be the full list of episodic ataxia, type 2 signs or episodic ataxia, type 2 symptoms. Episodic ataxia type 8 ea8 of infantile onset episodic ataxia with paroxysmal choreoathetosis and spasticity episodic ataxia of late onset after 60 years old typically with no family history, slow progression, and poor responsiveness. Mutations in two genes, kcna1 and cacna1a, cause the best characterized and account for the majority of identified cases of episodic ataxia. Examples of treatable ataxias include those due to deficiencies of vitamin e or coenzyme q10, and episodic ataxia type 2.
Signs and symptoms usually begin in midadulthood but can appear any time from childhood to lateadulthood. Episodic ataxia type 2 ea2 is a rare disorder presenting with paroxysmal vertigo and cerebellar dysfunction. Symptoms can include episodic extreme irritability 100%, episodic vomiting and lethargy 100%, protein avoidance 92%, ataxia 77%, stage. There are now eight recognized episodic ataxia syndromes, numbered 18, in addition to lateonset. These periods are often brought on by exercise, caffeine, or stress.
Symptoms of episodic ataxia type 1 ea1 typically appear in early childhood. Between spells, patients often demonstrate persistent nystagmus. Episodic ataxia type 1 ea1 is an autosomal dominant ion channel disorder affecting the cerebellum and peripheral nerves. In 20 my neurologist suggested i may have cerebellar ataxia and that theres no cure. Type 2 episodic ataxia ea2 is characterized by acetazolamideresponsive attacks of ataxia with or without migraine. Spinocerebellar ataxia 2 genetic and rare diseases.
Episodic ataxia genetic and rare diseases information. Episodic ataxias are characterized by intermittent symptoms or episodes that can vary in duration, lasting from minutes to days, consisting of slurred speech, a feeling of dizziness, ringing in the ears, abnormal posturing, unsteadiness and sometimes paralysis of. Genetic ataxia may be sex linked, meaning that the dna and gene problem is located on an x or y chromosome the sex chromosomes or it may be autosomal linked, where the abnormality is located on one of the other 23 pairs of chromosomes. Furthermore, signs and symptoms of episodic ataxia, type 2 may vary on an individual basis for each patient. Patients have intermittent symptoms, with little or no difficulties in between attacks, are not thought to develop progressive deficits jen et al. In all types of ea, the primarily noticed symptoms are impaired balance and coordination. Episodic ataxia type 2 ea 2 is a rare disorder presenting with paroxysmal vertigo and cerebellar dysfunction.
Source national institutes of health nih ophanet, a consortium of european partners, currently defines a condition rare when it affects 1 person per 2,000. Missense cacna1a mutation causing episodic ataxia type 2. Apr 21, 2016 episodic ataxia may be caused by a mutation in any of several genes and is inherited in an autosomal dominant manner. Ea1 also creates incoordination and balance problems.
Episodes of ataxia and other symptoms can begin anytime from early. The authors report three patients with ea2 two with proven mutations in the cacna1a gene whose attacks were prevented with the potassium channel blocker 4aminopyridine 4ap. National faataxia founq dation home national ataxia. Other early signs and symptoms of sca2 include additional movement problems, speech and swallowing difficulties, and weakness in the muscles that control eye movement. People with episodic ataxia have recurrent episodes of poor coordination and balance. Episodic ataxia type 2 ea2 is a disorder characterized by acute attacks of ataxia precipitated by stress, ethanol, and caffeine. Stress, exertion, alcohol and coffee may trigger the episodes which can last from hours to days. Other early signs and symptoms of sca2 include additional movement problems, speech and swallowing difficulties, and weakness in the muscles. People with this condition initially experience problems with coordination and balance ataxia. There are several types, but type 2 are the most well understood, and they are called episodic ataxia type 1 and 2.
Cerebellar ataxia and cerebellar degeneration are common to all types, but other signs and symptoms, as well as age of onset, differ depending on the specific gene mutation. Episodic ataxia type 2 ea2 is a dominantly inherited disorder, characterized by spells of ataxia, dysarthria, vertigo, and migraines, associated with mutations in the neuronal calciumchannel. The episodic ataxias eas are a group of rare autosomal dominant diseases characterized by recurrent attacks of vertigo and cerebellar ataxia. 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. I believed i had episodic ataxia type 2 ea2 from what i read. Occasionally patients will present with lateonset forms of this disease. Jan 15, 2019 symptoms of episodic ataxia type 1 ea1 typically appear in early childhood. If ataxia develops due to genetic features, it can be present from birth. Vertigo, dizziness, and imbalance rank amongst the most common presenting symptoms in neurology, ent, geriatric medicine, and general practice. The microsatellite marker ut705 was found to be linked to the ataxia locus with a 2point analysis. During these episodes, many people also experience dizziness vertigo, nausea and vomiting, migraine headaches, blurred or double vision. 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.
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. The disease was caused by mutations in the cacna1a gene, on chromosome 19p. Episodic ataxia type 2 ea2 is characterized by paroxysmal attacks of ataxia, vertigo, and nausea typically lasting minutes to days in duration. Episodic ataxia, type 2 symptoms, diagnosis, treatments. Episodic ataxia type 2 ea2 usually appears in childhood or early. Episodic ataxia type 2 is a rare autosomal dominant disease characterized by recurrent attacks of vertigo and cerebellar ataxia. Symptoms vary depending on the type and severity of ataxia. Episodic ataxia ea is an autosomal dominant disorder characterized by sporadic bouts of. Episodic ataxias are characterized by intermittent symptoms or episodes that can vary in duration, lasting from minutes to days, consisting of slurred speech, a feeling of dizziness, ringing in the ears, abnormal posturing, unsteadiness and sometimes paralysis of one side of the body. Symptoms hereditary paroxysmal cerebral ataxia the list of signs and symptoms mentioned in various sources for episodic ataxia, type 2 includes the 10 symptoms listed below. We perform a mutational screening in a group of 43 unrelated patients. Johns hopkins ataxia center focuses on people whose ataxia symptoms are worsening over.
During these episodes, many people also experience dizziness vertigo, nausea and vomiting, migraine headaches, blurred or double vision, slurred speech, and ringing in the ears tinnitus. The various symptoms of ea are caused by dysfunction of differing areas. There are eight recognized types of ataxia that are episodic rather than progressive ea 1 through ea 7, plus lateonset episodic ataxia. Spinocerebellar ataxia types 1,2,3,6,7 symptoms, treatment. Episodic ataxia type3 ea3 is similar to ea1 but often also presents with tinnitus and vertigo. We summarize current knowledge of clinical and genetic diagnosis, genotype. Clinical features of episodic ataxia type 2 episodic ataxia type 2 ea 2 usually begins in early childhood, most often before the age of 20.
Researchers have demonstrated 7 types of episodic ataxias so far. Ea1 is a disease that is mainly characterized by muscle stiffness and twitching. An autosomal dominant disorder characterized by acetozolamide responsive attacks of ataxia, migrainelike symptoms. Identification of novel and recurrent cacna1a gene mutations. Episodic ataxia type 7 ea7 of adult onset in one family for which the genetic defect maps to 19q episodic ataxia type 8 ea8 of infantile onset in one family for which the genetic defect maps to 1p36. Episodic ataxia type 2 is a rare genetically inherited disorder. Episodic ataxia type 2 ea2 is an autosomal dominant calcium channelopathy caused by a mutation in cacna1a.
Other forms of ea are extremely rare and reports have mostly come up with case studies involving ea type 1 and type 2. Oct 15, 2015 episodic ataxia type 2 ea2 is characterized by paroxysmal attacks of ataxia, vertigo, and nausea typically lasting minutes to days in duration. This post is about that journey a journey not of my choosing like so many others with chronic conditions have had to take. Episodic ataxia is characterised as bouts or attacks of ataxia symptoms. Onset is typically in childhood or early adolescence age range. Their symptoms, duration, severity, and triggers of ataxic. In some cases, symptoms improve or go away on their own. 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. Episodic ataxia type 2 is one of the more common forms and is characterized by the. List of causes of episodic ataxia and balance symptoms, alternative diagnoses, rare causes, misdiagnoses, patient stories, and much more. Sometimes there may be a rippling of the muscles myokymia that comes on with the ataxia. This cerebellar function is permanent and progressive, differentiating.
An autosomal dominant disorder characterized by acetozolamideresponsive attacks of ataxia, migrainelike symptoms, interictal nystagmus, and cerebellar atrophy. People with episodic ataxia have recurrent episodes of poor coordination and balance ataxia. Identification of novel and recurrent cacna1a gene. Episodic ataxia and balance symptoms symptom checker. Episodic ataxia, type 2 symptoms, diagnosis, treatments and. Spinocerebellar ataxia gradually progressive disorder, so symptomatic development occurs throughout prolong period. A child with ea1 will have brief bouts of ataxia that last between a few seconds and a few minutes. Ea2 is a disease that is mainly characterized by involuntary jerky eye movements. Ataxia maybe inherited and caused by a genetic defect or it may be acquired due to structural damage to the cerebellum or spinal cord. Jun 23, 2014 spinocerebellar ataxia 2 sca2 is a progressive disorder that causes symptoms including uncoordinated movement ataxia, speech and swallowing difficulties, muscle wasting, slow eye movement, and sometimes dementia. Patient with spinocerebellar ataxia types 2 and 10 jama network.
Jun 08, 2019 other forms of ea are extremely rare and reports have mostly come up with case studies involving ea type 1 and type 2. Patients with episodic ataxia type 2 ea2 can often be successfully treated with acetazolamide. Stress, exertion, alcohol and coffee may trigger the. Episodic ataxia type 2 is a rare genetically inherited. Dizziness unsteadiness incoordination impaired balance slurred speech nystagmus migraine vertigo visual disturbance dysarthria note that episodic ataxia, type 2 symptoms usually refers to various symptoms known to a patient. 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. These symptoms last from hours to days, in contrast with ea1, which lasts from seconds to minutes. Episodic ataxia ea is an autosomal dominant disorder characterized by sporadic bouts of ataxia severe discoordination with or without myokymia continuous muscle movement. Its sometimes possible to treat the underlying cause of the condition so it improves or stops getting worse, but in most cases this isnt possible and youll have treatment to relieve your symptoms.
Usually the initial occurrence of symptoms is in adult age. Episodic ataxia type 2 is one of the more common forms. Onset is typically in childhood or early adolescence age range 232 years. Onset is typically in childhood or early adolescence age range 2 32 years. During these episodes, many people also experience dizziness vertigo, nausea and vomiting, migraine headaches, blurred or double vision, slurred speech. The list of signs and symptoms mentioned in various sources for episodic ataxia, type 2 includes the 10 symptoms listed below. Episodic ataxia may be caused by a mutation in any of several genes and is inherited in an autosomal dominant manner. Ea2 is caused by lossoffunction mutations in the cacna1a gene, which encodes the. Ataxia is an abnormal lack of coordination that can cause a stumbling gait, difficulty with fine motor activities, and vision and sometimes speech problems ataxia is a symptom, and can occur with a range of health problems including vitamin deficiencies and genetic mutations. Cerebellar ataxia with peripheral neuropathy type 2 scan2. Treatment may include medication that reduces or eliminates symptoms. Episodic ataxia type 2 or ea2 is a very rare neurological condition, characterized by recurrent episodes of ataxia. The duration and number of attacks varied among family members and throughout life. Spinocerebellar ataxia 2 sca2 is a progressive disorder that causes symptoms including uncoordinated movement ataxia, speech and swallowing difficulties, muscle wasting, slow eye movement, and sometimes dementia.
If ataxia develops due to genetic features, it can be. Patients typically present with bouts of ataxia lasting less than 30 minutes and occurring once or twice daily. These patients present with gait ataxia usually with headache and papilledema. Medication typically has minimal impact on slowing ataxias progression unless it is caused by nutritional deficiencies. Episodic ataxia is a group of related conditions that affect the nervous system and cause problems with movement. Ataxia means impaired balance, disequilibrium or stumbling just as if being drunk. Jul 14, 2014 patient with spinocerebellar ataxia types 2 and 10 jama network. Steadily worsen the condition, but some exceptions are there for specific types of sca. The spells of unsteadiness caused by episodic ataxia type 1 ea1 usually last only for minutes at a time.
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