Autosomal dominant cerebellar ataxia, deafness, and narcolepsy
עודכן לאחרונה 18 Aug 2020
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Autosomal dominant cerebellar ataxia, deafness, and narcolepsy (ADCADN) is a nervous system disorder with signs and symptoms that usually begin in mid-adulthood and gradually get worse.
תיאור
Autosomal dominant cerebellar ataxia, deafness, and narcolepsy (ADCADN) is a nervous system disorder with signs and symptoms that usually begin in mid-adulthood and gradually get worse.
People with ADCADN have difficulty coordinating movements (ataxia) and mild to moderate hearing loss caused by abnormalities of the inner ear (sensorineural deafness). Most have excessive daytime sleepiness (narcolepsy). Narcolepsy is typically accompanied by cataplexy, which is a sudden brief loss of muscle tone in response to strong emotion (such as excitement, surprise, or anger). These episodes of muscle weakness can cause an affected person to slump over or fall, which occasionally leads to injury. These characteristic signs and symptoms of ADCADN typically begin in a person's thirties.
Eventually, people with ADCADN also experience a decline of intellectual function (dementia). The cognitive problems often begin with impairment of executive function, which is the ability to plan and implement actions and develop problem-solving strategies. Other features that can occur as the condition worsens include degeneration of the nerves that carry information from the eyes to the brain (optic atrophy); clouding of the lenses of the eyes (cataracts); numbness, tingling, or pain in the arms and legs (sensory neuropathy); puffiness or swelling (lymphedema) of the limbs; an inability to control the bowels or the flow of urine (incontinence); depression; uncontrollable crying or laughing (pseudobulbar signs); or a distorted view of reality (psychosis). Affected individuals usually survive into their forties or fifties.
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
ADCA-DN syndrome
ADCADN
Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome
Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant
Related patient information and medicines
Patient information leaflet
תסמונת מרפן
תסמונת מרפן (named after Dr Antoine Marfan, the French doctor who first described it in 1896) is a genetic disorder which people are born with and which lasts lifelong. If you have Marfan syndrome, you have a 50:50 chance of passing on the condition to each of your children. It is an autosomal dominant condition, meaning you only need one.
Patient information leaflet
נרקולפסיה וקטפלקסיה
Narcolepsy is a long-term (chronic) problem that affects your sleep. Many people with narcolepsy also have cataplexy. Narcolepsy is usually diagnosed by monitoring you while you sleep in a special sleep laboratory. If you have narcolepsy, your sleep-wake cycle is disrupted. It has been suggested that narcolepsy with cataplexy is a type of.
Patient information leaflet
מחלת הנטינגטון
מחלת הנטינגטון מטופל? a genetically inherited condition that causes parts of the brain and nervous system ל stop working properly over time. It is a slowly progressive condition that interferes with the movements of your body, thinking and judgement, and can lead to a change in your behaviour. Huntington's disease is an autosomal dominant.
Patient information leaflet
הפרעות אגירת גליקוגן
Type VIII and type X are now classified with type VI. This means that they are passed on in families through your genes. Autosomal recessive inheritance pattern Most, but not all, glycogen storage disorders are inherited in a pattern called autosomal recessive inheritance. Someone can be a carrier for a glycogen storage disorder. For a child to be.
Patient information leaflet
פורפיריה
ה porphyrias are a group of disorders in which there is a problem with the production of haem (also spelled heme) within the body. There are seven different types of porphyria and in most cases they run in families (are inherited). Most types of inherited porphyria are passed on in families through what is called autosomal dominant inheritance..
Patient information leaflet
מדד ישנוניות אפוורת
The Epworth Sleepiness Scale is a simple questionnaire designed to measure your general level of daytime sleepiness. Healthcare professionals often use this tool to help identify sleep disorders, כגון obstructive sleep apnoea or narcolepsy. Feeling excessively sleepy during the day can be caused by a range of issues, including: Poor sleep.
קריאה נוספת והפניות
- Autosomal dominant cerebellar ataxia, deafness, and narcolepsy; MedlinePlus, National Library of Medicine.
- Baets J, Duan X, Wu Y, Smith G, Seeley WW, Mademan I, McGrath NM, Beadell NC, Khoury J, Botuyan MV, Mer G, Worrell GA, Hojo K, DeLeon J, Laura M, Liu YT, Senderek J, Weis J, Van den Bergh P, Merrill SL, Reilly MM, Houlden H, Grossman M, Scherer SS, De Jonghe P, Dyck PJ, Klein CJ. Defects of mutant DNMT1 are linked to a spectrum of neurological disorders. Brain. 2015 Apr;138(Pt 4):845-61. doi: 10.1093/brain/awv010. Epub 2015 Feb 11.
- Kernohan KD, Cigana Schenkel L, Huang L, Smith A, Pare G, Ainsworth P; Care4Rare Canada Consortium; Boycott KM, Warman-Chardon J, Sadikovic B. Identification of a methylation profile for DNMT1-associated autosomal dominant cerebellar ataxia, deafness, and narcolepsy. Clin Epigenetics. 2016 Sep 5;8(1):91. doi: 10.1186/s13148-016-0254-x. eCollection 2016.
- Moghadam KK, Pizza F, La Morgia C, Franceschini C, Tonon C, Lodi R, Barboni P, Seri M, Ferrari S, Liguori R, Donadio V, Parchi P, Cornelio F, Inzitari D, Mignarri A, Capocchi G, Dotti MT, Winkelmann J, Lin L, Mignot E, Carelli V, Plazzi G. Narcolepsy is a common phenotype in HSAN IE and ADCA-DN. Brain. 2014 Jun;137(Pt 6):1643-55. doi: 10.1093/brain/awu069. Epub 2014 Apr 10.
- Walker LA, Bourque P, Smith AM, Warman Chardon J. Autosomal dominant cerebellar ataxia, deafness, and narcolepsy (ADCA-DN) associated with progressive cognitive and behavioral deterioration. Neuropsychology. 2017 Mar;31(3):292-303. doi: 10.1037/neu0000322. Epub 2016 Nov 21.
- Winkelmann J, Lin L, Schormair B, Kornum BR, Faraco J, Plazzi G, Melberg A, Cornelio F, Urban AE, Pizza F, Poli F, Grubert F, Wieland T, Graf E, Hallmayer J, Strom TM, Mignot E. Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy. Hum Mol Genet. 2012 May 15;21(10):2205-10. doi: 10.1093/hmg/dds035. Epub 2012 Feb 9.
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