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 lasting 3-5 days, recurring almost every month. [ncbi.nlm.nih.gov]

Episodic ataxia type-3 (EA3) is similar to EA1 but often also presents with tinnitus and vertigo. Patients typically present with bouts of ataxia lasting less than 30 minutes and occurring once or twice daily. [en.wikipedia.org]

• Weakness

  All but one young patient had additional neurologic symptoms that included paresthesia, weakness, headache, tinnitus, vertigo, and myotonia. All symptoms were prevented by acetazolamide. [ncbi.nlm.nih.gov]

  Congenital myasthenic syndromes are nonimmune mediated disorders of neuromuscular transmission characterized by weakness, fatigability, and progressive muscle atrophy. [ommbid.mhmedical.com]

  Vertigo, dysarthria, weakness No EA8 616055 AD UBR4 (1p36.13) Ubiquitin-protein ligase Early infancy Min to 24 h Vertigo, weakness Nystagmus, ataxia myokymia Table 2. [e-jmd.org]

• Falling

  Ancillary treatments and support: Protection apparel for severe cases to protect from traumatic falls. Specialists and specialty centers: Neurologist. [wohproject.org]

  The other child developed permanent imbalance with falls at the age of 2 years, strabismus, hyperactivity and slight to moderate cognitive deficiency. When aged 10 years, this was further complicated by episodic ataxia. [ncbi.nlm.nih.gov]

  After several metres of asymmetric ataxic gait they would fall to one side, sometimes adopting a sitting position. Recovery usually occurred in one to several minutes. [sciquest.org.nz]

  The fall in a vasovagal syncope may be flaccid with a loss of tone but many people, possibly up to 50%, fall with hips and knees extended with some moaning or growling as they fall. [epilepsydiagnosis.org]

  We advise patients with ataxia to work toward remaining in good general health by engaging in regular physical and mental exercise, eating and sleeping well, and avoiding injury from taking too much medicine, falling, or developing aspiration pneumonia [hopkinsmedicine.org]

• Short Stature

  Clinical features Early onset progressive ataxia Short stature Hypodontia Delayed puberty secondary to gonadal dysfunction Laboratory MRI shows white matter signal abnormalities consistent with central hypomyelination and cerebellar atrophy. [emedicine.com]

• Impaired Balance

  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: * Dizziness * Unsteadiness * Incoordination * Impaired balance * Slurred speech [checkorphan.org]

• Dyspnea

  Baloh and Lan Zhou, Novel mutation in KCNA1 causes episodic ataxia with paroxysmal dyspnea, Muscle & Nerve, 37, 3, (399-402), (2007). Sanjeev Rajakulendran, Stephanie Schorge, Dimitri M. Kullmann and Michael G. [doi.org]

  Novel mutation in KCNA1 causes episodic ataxia with paroxysmal dyspnea. Muscle Nerve. 2008; 37 :399–402. [ PubMed : 17912752 ] Steckley JL, Ebers GC, Cader MZ, McLachlan RS. An autosomal dominant disorder with episodic ataxia, vertigo, and tinnitus. [ncbi.nlm.nih.gov]

• Nausea

  She experienced recurrent attacks of loss of equilibrium and loss of coordination of the extremities accompanied by dysarthria and nausea beginning at about 10 years old. These episodes usually lasted for several hours two or three times a week. [ncbi.nlm.nih.gov]

  Associated symptoms include vertigo, nausea, vomiting, and mild photophobia. Sometimes, the day after an attack, she experiences bilateral headache not associated with nausea, vomiting, phonophobia, or photophobia. [doi.org]

  Attacks may last for minutes, but occasional longer episodes lasting for hours, can lead to nausea, vomiting, and headaches. Rare individuals have seizures. [wohproject.org]

  […] abruptly and reached a peak within 10 minutes: (1) Palpitations, pounding heart, or accelerated heart rate (2) Sweating (3) Trembling or shaking (4) Sensations of shortness of breath or smothering (5) Feeling of choking (6) Chest pain or discomfort (7) Nausea [books.google.ro]

• Vomiting

  Associated symptoms include vertigo, nausea, vomiting, and mild photophobia. Sometimes, the day after an attack, she experiences bilateral headache not associated with nausea, vomiting, phonophobia, or photophobia. [doi.org]

  Attacks may last for minutes, but occasional longer episodes lasting for hours, can lead to nausea, vomiting, and headaches. Rare individuals have seizures. [wohproject.org]

  Affected individuals experienced recurrent attacks with or without nystagmus, dysarthria, seizure, myokymia, dystonia, weakness, blurred vision, visual field defects, diplopia, migraine, dizziness, nausea and vomiting, sweating and abdominal pain. [ncbi.nlm.nih.gov]

  Hyperammonemias caused by deficiencies of urea cycle enzymes ( CPS1, ASS1, ASL, ARG1 gene mutations) are characterized by intermittent ataxia, dysarthria, vomiting, headache, ptosis, involuntary movements, seizures, and confusion. [bredagenetics.com]

• Muscle Rigidity

  This includes small, shuffling steps, muscle rigidity and slowed speech, as well as neuropathic symptoms. [en.wikipedia.org]

• Diarrhea

  Lastly, the father presented with interictal chronic diarrhea not associated to a known primary gastrointestinal disorder. Both ictal hyperhidrosis and interictal diarrhea ameliorated upon acetazolamide intake, the typical treatment for EA2. [ncbi.nlm.nih.gov]

• Muscle Weakness

  Sometimes during episodes convulsions, muscle weakness and hemiplegia may occur. [ivami.com]

  Seizures, muscle weakness, and paralysis affecting one side of the body (hemiplegia) may also occur during attacks. Additionally, some affected individuals have a muscle abnormality called myokymia during or between episodes. [ghr.nlm.nih.gov]

  You might have dizziness (vertigo), fatigue and muscle weakness during your episodes. In some cases, symptoms resolve in later life. Episodic ataxia doesn't shorten life span, and symptoms might respond to medication. [mayoclinic.org]

  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]

• Hyperhidrosis

  Additionally, they suffered from ictal hyperhidrosis with acute hypothermia of the extremities. Lastly, the father presented with interictal chronic diarrhea not associated to a known primary gastrointestinal disorder. [ncbi.nlm.nih.gov]

• Tinnitus

  Vestibular ataxia, vertigo, tinnitus, and interictal myokymia are prominent; attacks are diminished by acetazolamide. [ncbi.nlm.nih.gov]

  Homepage Rare diseases Search Search for a rare disease Episodic ataxia type 3 Disease definition Episodic ataxia type 3 (EA3) is a very rare form of Hereditary episodic ataxia (see this term) characterized by vestibular ataxia, vertigo, tinnitus, and [orpha.net]

  Medical description: This seems to be a unique form of episodic ataxia in its excellent response to acetazolamide, the presence of vertigo and tinnitus, and somewhat later age of onset (median 13 years). [wohproject.org]

• Diplopia

  Affected individuals experienced recurrent attacks with or without nystagmus, dysarthria, seizure, myokymia, dystonia, weakness, blurred vision, visual field defects, diplopia, migraine, dizziness, nausea and vomiting, sweating and abdominal pain. [ncbi.nlm.nih.gov]

  During attacks, they also have vertigo, nausea, vomiting, tinnitus and diplopia. These attacks are sometimes accompanied by headaches and precipitated by stress, fatigue, movement and arousal after sleep. [en.wikipedia.org]

  […] analysis of the mutation carriers showed the highly variable penetrance and expression of this disorder: Several of the carriers did not show any clinical symptom; others displayed atypical or permanent neurologic symptoms (such as recurrent, transient diplopia [n.neurology.org]

  Additional features include diplopia, tinnitus, seizure, dystonia, and cognitive impairment. [e-jmd.org]

• Blurred Vision

  Affected individuals experienced recurrent attacks with or without nystagmus, dysarthria, seizure, myokymia, dystonia, weakness, blurred vision, visual field defects, diplopia, migraine, dizziness, nausea and vomiting, sweating and abdominal pain. [ncbi.nlm.nih.gov]

  When the nerves in your vestibular system wear away, you can have the following problems: Blurred vision and other eye issues Nausea and vomiting Problems standing and sitting Staggering when you walk Trouble walking in a straight line Vertigo, or dizziness [webmd.com]

  During attacks some individuals may experience vertigo, blurred vision, diplopia, nausea, headache, diaphoresis, clumsiness, stiffening of the body, dysarthric speech, and difficulty in breathing. Onset is in childhood or early adolescence. [lacaf.org]

• Myokymia

  An Italian family has been identified where related members displayed continuous myokymia, episodes of ataxia, attacks characterized by myokymia only, and neuromyotonia. [ncbi.nlm.nih.gov]

• Vertigo

  PEDIGREE 3 The proband, age 65, recalled having positional vertigo dating back to his late teens. He had to stop playing American football in high school because he developed severe vertigo when pinned to the ground. [jnnp.bmj.com]

  Several variants of migraine and episodic vertigo have been reported by Baloh. There has recently been a report of a familial vestibulopathy consisting of episodic vertigo and migraine headache. [dizziness-and-balance.com]

  Given the familial aggregation of migraine and migrainous vertigo, our objective was to identify predisposing genetic factors. Preliminary findings demonstrate that migrainous vertigo is genetically heterogeneous and complex. [ncbi.nlm.nih.gov]

• Seizure

  RESULTS: The 7 family members had episodic ataxia (5), self-limited infantile seizures (5), evolving to genetic generalized epilepsy (4), focal seizures (2), and EE (1). [ncbi.nlm.nih.gov]

  Results: The 7 family members had episodic ataxia (5), self-limited infantile seizures (5), evolving to genetic generalized epilepsy (4), focal seizures (2), and EE (1). [scholars.northwestern.edu]

• Headache

  RESULTS: The three probands had attacks of imbalance, associated with dizziness/vertigo and/or headache. Two of them had independent migraine attacks. Interictal oculomotor examination revealed a gaze evoked nystagmus and central oculomotor signs. [ncbi.nlm.nih.gov]

  Recently, a mutation in the SLC1A3 gene encoding the glutamate transporter EAAT1 was identified in a patient with severe episodic and progressive ataxia, seizures, alternating hemiplegia, and migraine headache. [doi.org]

• Dystonia

  We have identified 2 novel truncating mutations that are associated with interictal dystonia. The dystonia is a late feature in this disease and may be a manifestation of a degenerative cerebellar process. [ncbi.nlm.nih.gov]

  Related signs and symptoms may include spasticity, tremor, fatigue, myoclonus, dystonia, peripheral neuropathy, seizures, thinking and memory difficulties, and personality or mood disorders. [hopkinsmedicine.org]

In adults, Vitamin E and occasionally Vitamin B-12 deficiency are rarely a cause of chronic progressive ataxia and should not be overlooked in a diagnostic workup. [movementdisorders.org]

Prospective 2-year follow-up of the natural history of the main presenting symptoms in a homozygous DARS2 mutation carrier, followed by a 60 day treatment with acetazolamide in two different doses and with two random treatment interruptions. [ncbi.nlm.nih.gov]

Prognosis: Excellent prognosis if treated. No permanent brain damage has been found. Ancillary treatments and support: Protection apparel for severe cases to protect from traumatic falls. Specialists and specialty centers: Neurologist. [wohproject.org]

Prognosis - Hereditary paroxysmal cerebral ataxia Not supplied. Treatment - Hereditary paroxysmal cerebral ataxia Not supplied. Resources - Hereditary paroxysmal cerebral ataxia Not supplied. [checkorphan.org]

Prognosis The prognosis for a person with ataxia depends upon the type and nature of the disease. Ataxia as a result of trauma or infection may be a temporary condition, or leave some degree of permanent disability. [encyclopedia.com]

Episodic neurologic disorders, such as epilepsy, migraine, and paroxysmal movement disorders, often coexist and are thought to have a shared channel-related etiology. [ncbi.nlm.nih.gov]

The term covers a number of multisensory and sensorimotor syndromes of various etiologies and pathogeneses, which can be elucidated only with an interdisciplinary approach. [books.google.ro]

Impaired P/Q-type calcium channel function is the etiology, and the mutation is again on CACNL1A(Ophoff et al, 1996). One of the numerous to count spinocerebellar ataxias, SCA6, is due to a tri-nucleotide repeat on this gene. [dizziness-and-balance.com]

Esther De Theije‐Kors and Joost Haan, Hemiplegic and Basilar‐type Migraine: Epidemiology, Genetics, and Mechanisms, Headache Currents, 3, 4, (73-81), (2006). [doi.org]

Epidemiology: The episodic ataxias are very rare. In our clinic database of mainly adult dizzy patients, containing roughly 12,000 distinct patients with dizziness, we have only 23 patients diagnosed as "episodic ataxia". [dizziness-and-balance.com]

"Fragile X-Associated Tremor Ataxia Syndrome: The Expanding Clinical Picture, Pathophysiology, Epidemiology, and Update on Treatment". Tremor and Other Hyperkinetic Movements. 2. doi : 10.7916/D8HD7TDS. ISSN 2160-8288. PMC 3570061. PMID 23439567. [en.wikipedia.org]

Gluten ataxia in perspective: epidemiology, genetic susceptibility and clinical characteristics. Brain. 2003;126:685-91. Hou J-G, Jankovic J. Movement disorders in Friedreich's ataxia. J Neurol Sci. 2003;206:59-64. Jankovic J, Tolosa E, eds. [bcm.edu]

So far, reduced glutamate uptake by mutant excitatory amino acid transporter-1 has been thought to be the main pathophysiological process in episodic ataxia type 6. [ncbi.nlm.nih.gov]

These results suggest that as in many neurodegenerative disorders, intracellular aggregation of misfolded Kv1.1-containing channels may contribute to the pathophysiology of EA-1. [doi.org]

[…] of schizophrenia. 1– 3 The analysis of associations between psychosis and neurodegenerative diseases may improve our understanding of the pathophysiology of schizophrenia and facilitate the search for susceptibility genes for this disorder. 4 To our [jnnp.bmj.com]

It is envisaged that characterization of the P type channel will also provide new and important information relevant to the role of calcium channels in neurobiology and pathophysiology in general. [cordis.europa.eu]

As effective as acetazolamide is in preventing attacks, prospective studies still have to prove whether it can prevent progressive ataxia in EA-2 or even improve chronic cerebellar deficits. [ncbi.nlm.nih.gov]