Familial paroxysmal kinesigenic dyskinesia
עודכן לאחרונה 11 Feb 2022
עומד בהנחיות העריכה של Patient
- הורדהורד
- שתף
- Language
- דיון
- גרסת שמע
- הוסף למקורות מועדפים בגוגל
Familial paroxysmal kinesigenic dyskinesia is a disorder characterised by episodes of abnormal movement that range from mild to severe. In the condition name, the word paroxysmal indicates that the abnormal movements come and go over time, kinesigenic means that episodes are triggered by movement, and dyskinesia refers to involuntary movement of the body.
תיאור
Familial paroxysmal kinesigenic dyskinesia is a disorder characterised by episodes of abnormal movement that range from mild to severe. In the condition name, the word paroxysmal indicates that the abnormal movements come and go over time, kinesigenic means that episodes are triggered by movement, and dyskinesia refers to involuntary movement of the body.
People with familial paroxysmal kinesigenic dyskinesia experience episodes of irregular jerking or shaking movements that are brought on by sudden motion, such as standing up quickly or being startled. An episode may involve slow, prolonged muscle contractions (dystonia); small, fast, "dance-like" motions (chorea); writhing movements of the limbs (athetosis); or, rarely, flailing movements of the limbs (ballismus).
Familial paroxysmal kinesigenic dyskinesia may affect one or both sides of the body. The type of abnormal movement varies among affected individuals, even among members of the same family. In many people with familial paroxysmal kinesigenic dyskinesia, a pattern of symptoms called an aura immediately precedes the episode. The aura is often described as a crawling or tingling sensation in the affected body part. Individuals with this condition do not lose consciousness during an episode and do not experience any symptoms between episodes.
Individuals with familial paroxysmal kinesigenic dyskinesia usually first experience episodes during childhood or adolescence. Episodes typically last less than five minutes, and the frequency of episodes ranges from one per month to 100 per day. In most affected individuals, episodes occur less often with age.
In some people with familial paroxysmal kinesigenic dyskinesia the disorder begins in infancy with recurring seizures characteristic of those in a condition called benign familial infantile seizures. These seizures usually develop in the first year of life and stop by age 3. When benign familial infantile seizures are associated with familial paroxysmal kinesigenic dyskinesia, the condition is known as infantile convulsions and choreoathetosis (ICCA). In families with ICCA, some individuals develop only benign familial infantile seizures, some have only familial paroxysmal kinesigenic dyskinesia, and others have ICCA, which has features of both conditions.
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Other names
Dystonia 10
Episodic kinesigenic dyskinesia
Familial paroxysmal dystonia
Paroxysmal kinesigenic choreoathetosis
Paroxysmal kinesigenic dyskinesia
Related patient information and medicines
Patient information leaflet
מחלת פרקינסון
ה main symptoms of Parkinson's disease are usually stiffness, shaking (tremor), and slowness of movement. Peo... What is Parkinson's disease. Parkinson's disease is a progressive neurological degeneration of certain cells (called dopaminergic cells) within a specific part of the brain (substantia nigra). The deficiency of dopamine leads to a.
Patient information leaflet
תרופות אנטי-פסיכוטיות
Antipsychotics are תרופות that are mainly used to treat schizophrenia or mania caused by bipolar disorder. Movement disorders develop in some cases. These include: Parkinsonism - this can cause symptoms similar to those that occur in people with Parkinson's disease - for example, tremor and muscle stiffness. Tardive dyskinesia (TD) - this is a.
Patient information leaflet
בלפרוספזם
בלפרוספזם is a condition in which blinking or spasmodic closing of the eyes occurs at an increased rate. Is blepharospasm hereditary. About 1 in 20 patients with BEB סובלים מ family members who have facial movement disorders, but no gene for blepharospasm has been identified. D... Is tardive dyskinesia related to blepharospasm. Tardive dyskinesia.
Patient information leaflet
תרומבופיליה
מהו thrombophilia. Thrombophilia refers to a group of conditions where the blood clots more easily than normal. This can lead to unwanted blood clots (called thromboses) forming within blood vessels. These blood clots can cause problems such as deep vein thrombosis (DVT) or pulmonary embolism. See the separate leaflets called Deep vein.
Patient information leaflet
סינוסיטיס כרוני
Chronic sinusitis is inflammation of the sinuses that lasts a long time, usually defined as 12 weeks or more. ... Granulomatosis with polyangiitis , a rare condition causing inflammation of blood vessels. Primary ciliary dyskinesia, כ rare inherited condition which prevents the body from moving and clearing mucus from the nasal passages, sinuses,.
Patient information leaflet
רעד חיוני
Essential tremor is the term for having uncontrolled shaking movements in parts of your body - most commonly your arms and hands. What is essential tremor. Essential tremor is the term for having uncontrolled shaking movements in parts of your body - most commonly your arms and hands - with no other symptoms and no underlying cause. Essential.
קריאה נוספת והפניות
- Familial paroxysmal kinesigenic dyskinesia; MedlinePlus, National Library of Medicine.
- Chen WJ, Lin Y, Xiong ZQ, Wei W, Ni W, Tan GH, Guo SL, He J, Chen YF, Zhang QJ, Li HF, Lin Y, Murong SX, Xu J, Wang N, Wu ZY. Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia. Nat Genet. 2011 Nov 20;43(12):1252-5. doi: 10.1038/ng.1008.
- Gardiner AR, Jaffer F, Dale RC, Labrum R, Erro R, Meyer E, Xiromerisiou G, Stamelou M, Walker M, Kullmann D, Warner T, Jarman P, Hanna M, Kurian MA, Bhatia KP, Houlden H. The clinical and genetic heterogeneity of paroxysmal dyskinesias. Brain. 2015 Dec;138(Pt 12):3567-80. doi: 10.1093/brain/awv310. Epub 2015 Nov 23.
- Kato N, Sadamatsu M, Kikuchi T, Niikawa N, Fukuyama Y. Paroxysmal kinesigenic choreoathetosis: from first discovery in 1892 to genetic linkage with benign familial infantile convulsions. Epilepsy Res. 2006 Aug;70 Suppl 1:S174-84. doi: 10.1016/j.eplepsyres.2006.02.009. Epub 2006 Aug 9.
- Landolfi A, Barone P, Erro R. The Spectrum of PRRT2-Associated Disorders: Update on Clinical Features and Pathophysiology. Front Neurol. 2021 Mar 4;12:629747. doi: 10.3389/fneur.2021.629747. eCollection 2021.
- Mehta SH, Morgan JC, Sethi KD. Paroxysmal dyskinesias. Curr Treat Options Neurol. 2009 May;11(3):170-8. doi: 10.1007/s11940-009-0020-x.
- Rochette J, Roll P, Szepetowski P. Genetics of infantile seizures with paroxysmal dyskinesia: the infantile convulsions and choreoathetosis (ICCA) and ICCA-related syndromes. J Med Genet. 2008 Dec;45(12):773-9. doi: 10.1136/jmg.2008.059519.
- Silveira-Moriyama L, Gardiner AR, Meyer E, King MD, Smith M, Rakshi K, Parker A, Mallick AA, Brown R, Vassallo G, Jardine PE, Guerreiro MM, Lees AJ, Houlden H, Kurian MA. Clinical features of childhood-onset paroxysmal kinesigenic dyskinesia with PRRT2 gene mutations. Dev Med Child Neurol. 2013 Apr;55(4):327-34. doi: 10.1111/dmcn.12056. Epub 2013 Jan 30.
- Tian WT, Huang XJ, Mao X, Liu Q, Liu XL, Zeng S, Guo XN, Shen JY, Xu YQ, Tang HD, Yin XM, Zhang M, Tang WG, Liu XR, Tang BS, Chen SD, Cao L. Proline-rich transmembrane protein 2-negative paroxysmal kinesigenic dyskinesia: Clinical and genetic analyses of 163 patients. Mov Disord. 2018 Mar;33(3):459-467. doi: 10.1002/mds.27274. Epub 2018 Jan 22.
- van Rootselaar AF, Schade van Westrum S, Velis DN, Tijssen MA. The paroxysmal dyskinesias. Pract Neurol. 2009 Apr;9(2):102-9. doi: 10.1136/jnnp.2009.172213.
- Yin XM, Lin JH, Cao L, Zhang TM, Zeng S, Zhang KL, Tian WT, Hu ZM, Li N, Wang JL, Guo JF, Wang RX, Xia K, Zhang ZH, Yin F, Peng J, Liao WP, Yi YH, Liu JY, Yang ZX, Chen Z, Mao X, Yan XX, Jiang H, Shen L, Chen SD, Zhang LM, Tang BS. Familial paroxysmal kinesigenic dyskinesia is associated with mutations in the KCNA1 gene. Hum Mol Genet. 2018 Feb 15;27(4):625-637. doi: 10.1093/hmg/ddx430.
הצטרפו לשיחה
שתפו את מחשבותיכם או חוויותיכם עם אחרים ב קהילות המטופלים שלנו.
שאלו, שתפו, התחברו.
עיין בדיונים, שאל שאלות ושתף חוויות במאות נושאים בריאותיים.
הירשמו לניוזלטר של פיישנט
המנה השבועית שלך של עצות בריאות ברורות ואמינות - נכתבה כדי לעזור לך להרגיש מעודכן, בטוח ובשליטה.
על ידי הרשמה אתה מקבל את שלנו מדיניות הפרטיות שלנו. באפשרותך לבטל את המנוי בכל עת. לעולם לא נמכור את הנתונים שלך.