Familial paroxysmal nonkinesigenic dyskinesia
Última actualización 18 Aug 2020
Cumple con las directrices editoriales
- DescargarDescargar
- Compartir
- Language
- Discusión
- Versión en audio
- Agregar a fuentes preferidas en Google
Familial paroxysmal nonkinesigenic dyskinesia is a disorder of the nervous system that causes episodes of involuntary movement. Paroxysmal indicates that the abnormal movements come and go over time. Nonkinesigenic means that episodes are not triggered by sudden movement. Dyskinesia broadly refers to involuntary movement of the body.
Descripción
Familial paroxysmal nonkinesigenic dyskinesia is a disorder of the nervous system that causes episodes of involuntary movement. Paroxysmal indicates that the abnormal movements come and go over time. Nonkinesigenic means that episodes are not triggered by sudden movement. Dyskinesia broadly refers to involuntary movement of the body.
People with familial paroxysmal nonkinesigenic dyskinesia experience episodes of abnormal movement that are brought on by alcohol, caffeine, stress, fatigue, menses, or excitement or develop without a known cause. Episodes are not induced by exercise or sudden movement and do not occur during sleep. An episode is characterised by irregular, jerking or shaking movements that range from mild to severe. In this disorder, the dyskinesia can include slow, prolonged contraction of muscles (dystonia); small, fast, "dance-like" motions (chorea); writhing movements of the limbs (athetosis); and, rarely, flailing movements of the limbs (ballismus). The dyskinesia also affects muscles in the torso and face. The type of abnormal movement varies among affected individuals, even among affected members of the same family. Individuals with familial paroxysmal nonkinesigenic dyskinesia do not lose consciousness during an episode. Most people do not experience any neurological symptoms between episodes.
Individuals with familial paroxysmal nonkinesigenic dyskinesia usually begin to show signs and symptoms of the disorder during childhood or their early teens. Episodes typically last 1 to 4 hours, and the frequency of episodes ranges from several per day to one per year. In some affected individuals, episodes occur less often with age.
Patrones de herencia
The source lists the following possible inheritance patterns: Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Otros nombres
Familial paroxysmal choreoathetosis
Mount-Reback syndrome
Nonkinesigenic choreoathetosis
Paroxysmal dystonic choreoathetosis
Paroxysmal nonkinesigenic dyskinesia
PDC
PNKD
Related patient information and medicines
Patient information leaflet
Trombofilia
Trombofilia refers to a group of conditions where the coágulos de sangre more easily than normal. See the separate leaflets called Deep vein thrombosis and Pulmonary embolism for more details. It is a chain reaction of different chemicals in the blood which are called clotting factors. The clotting cascade makes the blood solidify into a clot, which.
Patient information leaflet
enfermedad de Parkinson
The main symptoms of Parkinson's disease are usually stiffness, shaking (tremor), and slowness of movement. 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 movement disorder with Parkinson's.
Patient information leaflet
Sinusitis crónica
Chronic sinusitis is inflammation of the sinuses that lasts a long time, usually defined as 12 weeks or more. Examples include: Cystic fibrosis , a genetic condition which causes thick mucus that is d... Primary ciliary dyskinesia, a rare inherited condition cuál prevents the body from moving and clearing mucus from the nasal passages, sinuses,.
Patient information leaflet
Blefaroespasmo
Blefaroespasmo is a condition in which blinking or spasmodic closing of the eyes occurs at an increased rate. This leaflet is mainly about primary blepharospasm, also called benign essential blepharospasm (BEB). It is more common with advancing age and typically develops in the sixth decade. Is blepharospasm hereditary. About 1 in 20 patients with.
Patient information leaflet
Medicamentos antipsicóticos
Antipsychotics are medicines that are mainly used to treat schizophrenia or mania causado por trastorno bipolar. There are two main types of antipsychotics: aty... Dystonia - this means abnormal movements of the face and body. Tardive dyskinesia (TD) - this is a movement disorder that can occur in some people who have taken antipsychotics for several.
Patient information leaflet
Temblor esencial
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. There is good.
Lecturas adicionales y referencias
- Familial paroxysmal nonkinesigenic dyskinesia; MedlinePlus, National Library of Medicine.
- Bruno MK, Lee HY, Auburger GW, Friedman A, Nielsen JE, Lang AE, Bertini E, Van Bogaert P, Averyanov Y, Hallett M, Gwinn-Hardy K, Sorenson B, Pandolfo M, Kwiecinski H, Servidei S, Fu YH, Ptacek L. Genotype-phenotype correlation of paroxysmal nonkinesigenic dyskinesia. Neurology. 2007 May 22;68(21):1782-9. doi: 10.1212/01.wnl.0000262029.91552.e0.
- Chen DH, Matsushita M, Rainier S, Meaney B, Tisch L, Feleke A, Wolff J, Lipe H, Fink J, Bird TD, Raskind WH. Presence of alanine-to-valine substitutions in myofibrillogenesis regulator 1 in paroxysmal nonkinesigenic dyskinesia: confirmation in 2 kindreds. Arch Neurol. 2005 Apr;62(4):597-600. doi: 10.1001/archneur.62.4.597.
- Erro R. Familial Paroxysmal Nonkinesigenic Dyskinesia. 2005 Jun 24 [updated 2019 Apr 4]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1221/
- 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.
- Lee HY, Xu Y, Huang Y, Ahn AH, Auburger GW, Pandolfo M, Kwiecinski H, Grimes DA, Lang AE, Nielsen JE, Averyanov Y, Servidei S, Friedman A, Van Bogaert P, Abramowicz MJ, Bruno MK, Sorensen BF, Tang L, Fu YH, Ptacek LJ. The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway. Hum Mol Genet. 2004 Dec 15;13(24):3161-70. doi: 10.1093/hmg/ddh330. Epub 2004 Oct 20.
- Shen Y, Ge WP, Li Y, Hirano A, Lee HY, Rohlmann A, Missler M, Tsien RW, Jan LY, Fu YH, Ptacek LJ. Protein mutated in paroxysmal dyskinesia interacts with the active zone protein RIM and suppresses synaptic vesicle exocytosis. Proc Natl Acad Sci U S A. 2015 Mar 10;112(10):2935-41. doi: 10.1073/pnas.1501364112. Epub 2015 Feb 17.
- Shen Y, Lee HY, Rawson J, Ojha S, Babbitt P, Fu YH, Ptacek LJ. Mutations in PNKD causing paroxysmal dyskinesia alters protein cleavage and stability. Hum Mol Genet. 2011 Jun 15;20(12):2322-32. doi: 10.1093/hmg/ddr125. Epub 2011 Apr 12.
Únete a la conversación
Comparte tus pensamientos o experiencias con otros en nuestro comunidades de pacientes.
Pregunta, comparte, conecta.
Navega por discusiones, haz preguntas y comparte experiencias en cientos de temas de salud.
Suscríbete al boletín de Patient
Tu dosis semanal de consejos de salud claros y confiables, escritos para ayudarte a sentirte informado, seguro y en control.
Al suscribirte aceptas nuestros Política de Privacidad. Puedes darte de baja en cualquier momento. Nunca vendemos tus datos.