Acronym PNKD3 Synonyms Generalized epilepsy and paroxysmal dyskinesia GEPD Keywords Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]

It may present as paroxysmal dyskinesia, an entity known as Sandifer syndrome. A 6-week-old neonate presented with very frequent paroxysms of generalized stiffening and opisthotonic posture since day 22 of life. [annalsofian.org]

This disorder should not be confused with Tourette syndrome, which commonly presents by seven years of age. Tardive tremors often present as involuntary rhythmical, wave-like, and persistent movements of the head, neck, limbs, or voice. [encyclopedia.com]

Interactions with industry are essential to bringing the researchers' discoveries to the public, but can present the potential for conflicts of interest related to their research activities. [my.clevelandclinic.org]

Attacks may present with choreoathetotic movements or stiffening and cramps. [neupsykey.com]

• Weakness

  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]

  Here are the most common ones: Diplopia: double vision caused by weakness in muscles that control the eyes Paresthesia: abnormal sensations described as burning, tingling, prickling, itching, numbness or pins and needles Trigeminal neuralgia : intense [belmarrahealth.com]

  His central nervous system examination had shown subtle facial and bulbar weakness and flaccid areflexic quadriparesis with occasional antigravity movements without any contracture. However, there was no ocular weakness, impaired vision or hearing. [annalsofian.org]

  Patients had a chronic history of non-epileptic paroxysmal motor disorders, especially paroxysmal exercise-induced dyskinesia, non-kinesigenic dyskinesia, limb weakness, headache, drowsiness and dysphoria. [jnnp.bmj.com]

  There may be bilateral weakness from the onset of episodes or during the attacks. Attacks may last minutes to more than half an hour. [epilepsydiagnosis.org]

• Collapse

  A history of chronic headache and sensory symptoms associated with the collapse should lead to consideration of neuroimaging as decompression surgery can be curative. [epilepsydiagnosis.org]

• Tachypnea

  Spells may be precipitated by tachypnea or tachycardia and by dehydration. Spells may be characterized by crying, panic, rapid deep breathing, deepening cyanosis, limpness and subsequently a tonic-clonic episode. [epilepsydiagnosis.org]

• Hypertension

  Gain-of-function mutation in the KCNMB1 potassium channel subunit is associated with low prevalence of diastolic hypertension. J. Clin. Invest. 113, 1032–1039 (2004). 13 Jin, W., Sugaya, A., Tsuda, T., Ohguchi, H. & Sugaya, E. [nature.com]

  Hyper-cyanotic spells are most frequently seen in infants with Tetralogy of Fallot (known as 'tet spells'), however can be seen in other congenital cardiac defects with pulmonary or subpulmonary stenosis and a ventriculoseptal defect and in pulmonary hypertension [epilepsydiagnosis.org]

• Cyanosis

  They were not associated with uprolling of eyeballs, vacant stare, loss of consciousness, tongue bite, perioral cyanosis, or passage of stool or urine. He also had associated swallowing difficulty and occasional choking episodes. [annalsofian.org]

  Spells may be characterized by crying, panic, rapid deep breathing, deepening cyanosis, limpness and subsequently a tonic-clonic episode. [epilepsydiagnosis.org]

• Tinnitus

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

• Benign Paroxysmal Positional Vertigo

  Benign Paroxysmal Positional Vertigo Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Benign Paroxysmal Positional Vertigo from the curated CTD Gene-Disease Associations dataset. benign paroxysmal positional nystagmus [amp.pharm.mssm.edu]

• Flushing

  Pallor and autonomic symptoms such as flushing, sweating, feeling warm, nausea and abdominal discomfort may occur. [epilepsydiagnosis.org]

• Leg Cramp

  Some early symptoms include: A "dragging leg" Cramping of the foot Involuntary pulling of the neck Uncontrollable blinking Speech difficulties Stress or fatigue may bring on the symptoms or cause them to worsen. [webmd.com]

• Fear

  The age of onset is typically in childhood or early adolescence with most cases reporting improvement or complete remission with aging. [2] Attacks last from seconds to minutes and are known to be at higher risk of occurring during stress, fear, cold, [en.wikipedia.org]

  Fear may be a manifestation of focal seizures therefore ictal EEG may be required to make a correct diagnosis. [epilepsydiagnosis.org]

• Behavior Disorder

  BEHAVIORAL, PSYCHOLOGICAL AND PSYCHIATRIC DISORDERS Daydreaming /inattention Daydreaming /inattention is common in childhood and events are frequently misdiagnosed as absence seizures. [epilepsydiagnosis.org]

  DRD4 Attention deficit-hyperactivity disorder DRD5 Autism spectrum disorder AHNAK2 Autism spectrum disorder ANKS3 Autism spectrum disorder BPIFA3 Autism spectrum disorder EN2 Autism spectrum disorder RABGGTA Autism spectrum disorder, MYO16 related MYO16 [centogene.com]

• Depersonalization

  More severe dissociative states are seen in dissociative disorders and may include depersonalization and amnesia. [epilepsydiagnosis.org]

• Visual Hallucination

  Complex hallucinations with hallucinations of seeing people or scenes, hearing voices or formed music and distortions of visual perception may occur as an uncommon manifestation of focal seizures. [epilepsydiagnosis.org]

• Incontinence

  Urinary incontinence is common in syncope. A family history of vasovagal syncope is common. A family history of sudden death, drowning or events triggered by exercise or fright are important clues to a cardiac syncope. [epilepsydiagnosis.org]

• Tremor

  Subtypes of tremors include tremors at rest, essential tremor, which is a postural tremor at either rest or activity and may be inherited, or tremor with movement (intention "kinetic" tremor). [encyclopedia.com]

  Movement disorders are a group of conditions that affect children and adolescents, manifesting as involuntary movements of body parts in the form of tremor, dystonia, dyskinesia. [brisbanechildneurology.com.au]

  […] and postural abnormalities with generalized dystonia and parkinsonism and at autopsy, severe depigmentation (hypomelanization) of the large neurons of the substantia nigra and the locus ceruleus DYT-15 18p11 dystonia 15, myoclonic Autosomal Dominant Tremor [cmdg.org]

  There may be twisting body movements, tremor, and unusual or awkward postures. For some, the whole body may be involved in the movements, but for others, only certain parts of the body are affected. [medicalnewstoday.com]

  Parkinsonian symptoms include involuntary, rhythmic, quivering movements (tremors), bradykinesia, and postural instability. Seizures have been reported in some cases. [rarediseases.org]

• Febrile Seizures

  Seizures (FS) Focal Epilepsy (FE) Genetic Generalized Epilepsy (GGE) Genetic Generalized Epilepsy with Febrile Seizures plus (GEFS+) Glycosylphosphatidylinositol (GPI) Anchor Deficiency ICCA (Infantile Convulsions and Choreoathetosis). [amplexa.com]

  SEIZURES PLUS, TYPE 2 SEVERE MYOCLONIC EPILEPSY OF INFANCY FAMILIAL HEMIPLEGIC MIGRAINE, TYPE 3 INTRACTABLE CHILDHOOD EPILEPSY, WITH GENERALIZED TONIC-CLONIC SEIZURES FAMILIAL FEBRILE CONVULSIONS, TYPE 3A Nav1.2 (K69/3) FEBRILE SEIZURES ASSOCIATED WITH [neuromab.ucdavis.edu]

  Differential Diagnoses Complex Partial Seizures Confusional States and Acute Memory Disorders Dizziness, Vertigo, and Imbalance Frontal Lobe Epilepsy Migraine Variants Narcolepsy Pediatric Febrile Seizures Pediatric Status Epilepticus Syncope Viral Encephalitis [emedicine.medscape.com]

  seizures plus type 2 SCN1A Generalized epilepsy with febrile seizures plus type 3 GABRG2 Generalized epilepsy with febrile seizures plus type 7 SCN9A Gerstmann-Straussler disease PRNP Giant axonal neuropathy type 1 GAN Gillespie syndrome ITPR1 GLUT1 [centogene.com]

  Weber YG, Jacob M, Weber G, Lerche H: A BFIS-like syndrome with late onset and febrile seizures: suggestive linkage to chromosome 16p11.2–16q12.1. Epilepsia 2008, 11: 1959–1964. CrossRef Google Scholar 26. [link.springer.com]

• Night Terrors

  QT syndrome and other arrhythmias Dystonias including nocturnal paroxysmal dystonias Paroxysmal dyskinesias [3] Encephalopathies and metabolic disorders Pseudoepileptic seizures or nonepileptic seizures Nocturnal paroxysmal events (eg, sleep apnea, night [emedicine.medscape.com]

  Parasomnias Arousal parasomnias including night terrors, sleep walking and confusional arousals are behaviors that arise out of deep non-REM sleep (stages 3 & 4), typically in the first third of the nights sleep. [epilepsydiagnosis.org]

• Insomnia

  DISEASE, TYPE 4J AMYOTROPHIC LATERAL SCLEROSIS 11 Frataxin (N191/7) FRIEDREICH ATAXIA GABA-A receptor alpha1 (N95/35) SUSCEPTIBILITY TO JUVENILE MYOCLONIC EPILEPSY, TYPE 5 SUSCEPTIBILITY TO CHILDHOOD ABSENCE EPILEPSY, TYPE 4 GABA-A receptor beta3 (N87/25) INSOMNIA [neuromab.ucdavis.edu]

• Infantile-Onset Seizures

  Infantile onset seizures, acquired microcephaly, spasticity, ataxia, dystonia and mental retardation are the cardinal features of the syndrome. Over the years, the clinical spectrum of GLUT-1 DS has been expanded beyond the original phenotype. [content.iospress.com]

[…] phases of the study (baseline, treatment and withdrawal) of 2 months each. [jnnp.bmj.com]

Seizures are often remained refractory despite the treatment with a number of antiepileptic medications. Valproate and benzodiazepines are relatively contraindicated for the treatment of seizures in this syndrome. [content.iospress.com]

Treatment in dystonia can be classified as etiology-based vs. symptomatic. While most treatments remain symptom-based, etiology-based treatments exist for a few forms of dystonia (“don’t-miss” diagnoses”) and can provide remarkable benefits. [clinicalmovementdisorders.biomedcentral.com]

An inaccurate psychiatric diagnosis not only causes unnecessary suffering to the person affected by PD, but it may also preclude appropriate treatment options. Treatment There is no cure for dystonia or PD at this time, but treatments are available. [dystoniacanada.org]

Medication treatments The following are common treatments for dystonia: Levodopa People diagnosed with dopa-responsive dystonia will be prescribed levodopa treatment. This medication raises levels of dopamine - a neurotransmitter. [medicalnewstoday.com]

The prognosis of PD is extremely difficult to determine because the disease varies from person to person. The attacks for PKD can be reduced and managed with proper anticonvulsants, but there is no particular end in sight for any of the PD diseases. [en.wikipedia.org]

Typically, patients receive antiepileptic medications, and improvement of symptoms is usually associated with a good prognosis. If symptoms do not improve with antiepileptic medication(s), the prognosis is not favorable. [encyclopedia.com]

PMID: 12366739 Prognosis Leen WG, Taher M, Verbeek MM, Kamsteeg EJ, van de Warrenburg BP, Willemsen MA J Neurol 2014 Mar;261(3):589-99. Epub 2014 Jan 12 doi: 10.1007/s00415-014-7240-z. [ncbi.nlm.nih.gov]

The events appear very frightening for carers but have a good prognosis. When reflex anoxic seizures are very frequent, atropine or cardiac pacing may be considered. [epilepsydiagnosis.org]

Nationwide survey (incidence, clinical course, prognosis) of Rasmussen's encephalitis. Brain Dev. 32:445-53,2010. Hirano Y, Oguni H, Funatsuka M, Imai K, Osawa M. [twmu.ac.jp]

• Paroxysmal dyskinesias may be sporadic, genetic, or caused by metabolic or structural etiologies. • Another common cause of paroxysmal dyskinesias is psychogenic movement disorders. • Paroxysmal kinesigenic dyskinesia typically responds well to antiepileptic [medlink.com]

Etiology Lebon S, Suarez P, Alija S, Korff CM, Fluss J, Mercati D, Datta AN, Poloni C, Marcoz JP, Campos-Xavier AB, Bonafé L, Roulet-Perez E Eur J Paediatr Neurol 2015 Mar;19(2):170-5. Epub 2014 Dec 11 doi: 10.1016/j.ejpn.2014.11.009. [ncbi.nlm.nih.gov]

Table 2 Dystonic disorders where etiology-specific treatment is available The quintessential “don’t-miss” diagnosis is DRD in which levodopa serves as an etiology-specific therapy. [clinicalmovementdisorders.biomedcentral.com]

Partial response to therapy in GER should prompt search for an underlying secondary etiology. [annalsofian.org]

The etiology of non-epileptic seizures is heterogeneous, with different predisposing, precipitating and promoting factors in different affected individuals. [epilepsydiagnosis.org]

Upon completing her epilepsy fellowship, she received an American Academy of Neurology clinical research training fellowship award to begin her own study of familial epilepsy and to pursue training in genetic epidemiology at Case Western Reserve University [my.clevelandclinic.org]

Environmental Science, Cleveland State University, Cleveland, 44115, Ohio, USA Wei Du & Qing K Wang Department of Neurology, The Cleveland Clinic Foundation, Cleveland, 44195, Ohio, USA Jocelyn F Bautista, Prakash Kotagal & Hans O Lüders Department of Epidemiology [nature.com]

Abuse and dependence potential for the non-benzodiazepine hypnotics zolpidem and zopiclone: a review of case reports and epidemiological data. Addiction. 2003;98:1371–8. PubMed Google Scholar Daniele A, Moro E, Bentivoglio AR. [clinicalmovementdisorders.biomedcentral.com]

This review summarizes clinical symptoms of the PDs, imaging findings, therapeutic options, and the pathophysiologic background. [link.springer.com]

Hypocretin/orexin and sleep: implications for the pathophysiology and diagnosis of narcolepsy. Curr Opin Neurol 2002, 15 : 739 –745. Paolicchi JM. The spectrum of nonepileptic events in children. Epilepsia 2002, 43 (Suppl. 3): 60 –64. [cambridge.org]

The current poor understanding of the pathophysiology and biochemistry of PD often makes establishing a satisfactory treatment plan difficult. [dystoniacanada.org]

The role of GABA in dystonia pathophysiology remains unclear. [clinicalmovementdisorders.biomedcentral.com]

It is considered a migraine variant as there is often a family history of migraine headache, though the pathophysiology is not well understood. Usually no trigger to a particular episode can be defined. [epilepsydiagnosis.org]

It prevents specific neurotransmitters from reaching the affected muscles, preventing spasms. Botulinum toxin is administered by injection. One dose usually lasts about 3 months. There may be some initial (temporary) pain at the injection site. [medicalnewstoday.com]

PED [ edit ] PED patients usually avoid prolonged, continuous exertion to prevent occurrence of attacks. Use of anticonvulsants such as benzodiazepines show little to no success in PED patients. [en.wikipedia.org]

Some patients learn to prevent the episode by slowing down their movement. Attacks recur frequently with most patients having up to 20 attacks daily, up to 100 episodes per day in puberty, and marked decrease in frequency after age 20 years. [neupsykey.com]

No treatment was given in patient 3, as PED attacks were not particularly disabling and could be prevented by avoiding prolonged exercise. [onlinelibrary.wiley.com]

The retained awareness and history of triggers should prevent misdiagnosis as focal seizures. [epilepsydiagnosis.org]