Huntington's disease history and symptoms
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Syed Ahsan Hussain, M.D.[2]
Overview
History and Symptoms
Although there is no sudden loss of abilities or exhibition of symptoms, there is a progressive decline.
Physicals
- Dementia
- Chorea movements:
- Jerky movements
- Uncontrollable movements
- Although some exhibit very slow movement and stiffness
- Loss of determination
- Speaking is impaired with slurred words and uncontrollable movements of the mouth
- Eating and mobility are extremely difficult if not impossible, and full-time care is required.
Cognitive : Abilities affected are;
- Executive function
- Planning; cognitive flexibility
- Rule acquisition
- Initiating appropriate actions
- Inhibiting inappropriate actions
- Slurring of the words and some uncontrollable movement of the lips
- Perceptual and spatial skills of self and surrounding environment
- Ability to learn new skills, depending on the affected parts of the brain.
Psychopathological : Psychopathological symptoms vary more than cognitive and physical symptoms, and may include
- Anxiety
- Depression
- Compulsivity which can cause addictions such as alcoholism and gambling, or hypersexuality.
- Unable to recognize expressions of disgust in others and also don't show reactions of disgust to foul odors or tastes.[1] The inability to recognize disgust in others appears in carriers of the Huntington gene before symptoms are manifest.[2] A number of related studies have been published.[3]
Common Symptoms
- The common symptoms of Huntington`s disease are given below:[4][5][6][7][8][9][10][11][12][13][14][15][16][17][18][19][20][9][21][22][23][24]
- Involuntary movements (Chorea) of face, trunk and limbs.
- Parakinesia.
- Hypotonia.
- Hyperreflexia.
- Dystonia of hands.
- Mild bradykinesia is also observed.
- Abnormal eye movements.
- Conjugate eye movements.
- Nystagmus.
- Depression.
- Paranoia, delusions, and hallucinations.
- Loss of Cognitive functions.
- Dementia.
- Aphasia.
- Apraxia.
- Weight loss and cachexia.
Less Common Symptoms
- Less common symptoms of Huntington`s disease are given below:[25][26]
- Ataxia.
- Myoclonus.
- Seizures.
- Generalized dystonia.
References
- ↑ Mitchell IJ, Heims H, Neville EA, Rickards H. Huntington's disease patients show impaired perception of disgust in the gustatory and olfactory modalities. Journal of Neuropsychiatry and Clinical Neuroscience, 17:119-121, February 2005. PMID 15746492
- ↑ Sprengelmeyer R, Schroeder U, Young AW, Epplen JT. "Disgust in pre-clinical Huntington's disease: a longitudinal study." Neuropsychologia. 2006;44(4):518-33. Epub 2005 August 11. PMID 16098998
- ↑ PubMed search for "Huntington's disease" and "disgust"
- ↑ McCusker EA, Gunn DG, Epping EA, Loy CT, Radford K, Griffith J, Mills JA, Long JD, Paulsen JS (September 2013). "Unawareness of motor phenoconversion in Huntington disease". Neurology. 81 (13): 1141–7. doi:10.1212/WNL.0b013e3182a55f05. PMC 3795599. PMID 23966256.
- ↑ Blekher TM, Yee RD, Kirkwood SC, Hake AM, Stout JC, Weaver MR, Foroud TM (October 2004). "Oculomotor control in asymptomatic and recently diagnosed individuals with the genetic marker for Huntington's disease". Vision Res. 44 (23): 2729–36. doi:10.1016/j.visres.2004.06.006. PMID 15358067.
- ↑ Lasker AG, Zee DS (December 1997). "Ocular motor abnormalities in Huntington's disease". Vision Res. 37 (24): 3639–45. doi:10.1016/S0042-6989(96)00169-1. PMID 9425536.
- ↑ Blekher T, Johnson SA, Marshall J, White K, Hui S, Weaver M, Gray J, Yee R, Stout JC, Beristain X, Wojcieszek J, Foroud T (August 2006). "Saccades in presymptomatic and early stages of Huntington disease". Neurology. 67 (3): 394–9. doi:10.1212/01.wnl.0000227890.87398.c1. PMID 16855205.
- ↑ Kirkwood SC, Su JL, Conneally P, Foroud T (February 2001). "Progression of symptoms in the early and middle stages of Huntington disease". Arch. Neurol. 58 (2): 273–8. PMID 11176966.
- ↑ 9.0 9.1 Di Maio L, Squitieri F, Napolitano G, Campanella G, Trofatter JA, Conneally PM (April 1993). "Onset symptoms in 510 patients with Huntington's disease". J. Med. Genet. 30 (4): 289–92. PMC 1016334. PMID 8487272.
- ↑ van Duijn E, Kingma EM, Timman R, Zitman FG, Tibben A, Roos RA, van der Mast RC (November 2008). "Cross-sectional study on prevalences of psychiatric disorders in mutation carriers of Huntington's disease compared with mutation-negative first-degree relatives". J Clin Psychiatry. 69 (11): 1804–10. PMID 19026253.
- ↑ Di Maio L, Squitieri F, Napolitano G, Campanella G, Trofatter JA, Conneally PM (April 1993). "Suicide risk in Huntington's disease". J. Med. Genet. 30 (4): 293–5. PMC 1016335. PMID 8487273.
- ↑ Wetzel HH, Gehl CR, Dellefave-Castillo L, Schiffman JF, Shannon KM, Paulsen JS (August 2011). "Suicidal ideation in Huntington disease: the role of comorbidity". Psychiatry Res. 188 (3): 372–6. doi:10.1016/j.psychres.2011.05.006. PMC 3790459. PMID 21605914.
- ↑ Hubers AA, Reedeker N, Giltay EJ, Roos RA, van Duijn E, van der Mast RC (February 2012). "Suicidality in Huntington's disease". J Affect Disord. 136 (3): 550–7. doi:10.1016/j.jad.2011.10.031. PMID 22119091.
- ↑ van Duijn E, Kingma EM, van der Mast RC (2007). "Psychopathology in verified Huntington's disease gene carriers". J Neuropsychiatry Clin Neurosci. 19 (4): 441–8. doi:10.1176/jnp.2007.19.4.441. PMID 18070848.
- ↑ Paulsen JS, Ready RE, Hamilton JM, Mega MS, Cummings JL (September 2001). "Neuropsychiatric aspects of Huntington's disease". J. Neurol. Neurosurg. Psychiatry. 71 (3): 310–4. PMC 1737562. PMID 11511702.
- ↑ Zappacosta B, Monza D, Meoni C, Austoni L, Soliveri P, Gellera C, Alberti R, Mantero M, Penati G, Caraceni T, Girotti F (June 1996). "Psychiatric symptoms do not correlate with cognitive decline, motor symptoms, or CAG repeat length in Huntington's disease". Arch. Neurol. 53 (6): 493–7. PMID 8660149.
- ↑ Tsuang D, Almqvist EW, Lipe H, Strgar F, DiGiacomo L, Hoff D, Eugenio C, Hayden MR, Bird TD (December 2000). "Familial aggregation of psychotic symptoms in Huntington's disease". Am J Psychiatry. 157 (12): 1955–9. doi:10.1176/appi.ajp.157.12.1955. PMID 11097960.
- ↑ Snowden J, Craufurd D, Griffiths H, Thompson J, Neary D (January 2001). "Longitudinal evaluation of cognitive disorder in Huntington's disease". J Int Neuropsychol Soc. 7 (1): 33–44. PMID 11253840.
- ↑ Pillon B, Deweer B, Agid Y, Dubois B (April 1993). "Explicit memory in Alzheimer's, Huntington's, and Parkinson's diseases". Arch. Neurol. 50 (4): 374–9. PMID 8460958.
- ↑ Duff K, Paulsen J, Mills J, Beglinger LJ, Moser DJ, Smith MM, Langbehn D, Stout J, Queller S, Harrington DL (August 2010). "Mild cognitive impairment in prediagnosed Huntington disease". Neurology. 75 (6): 500–7. doi:10.1212/WNL.0b013e3181eccfa2. PMC 2918475. PMID 20610833.
- ↑ Hamilton JM, Wolfson T, Peavy GM, Jacobson MW, Corey-Bloom J (February 2004). "Rate and correlates of weight change in Huntington's disease". J. Neurol. Neurosurg. Psychiatry. 75 (2): 209–12. PMC 1738924. PMID 14742590.
- ↑ Sanberg PR, Fibiger HC, Mark RF (April 1981). "Body weight and dietary factors in Huntington's disease patients compared with matched controls". Med. J. Aust. 1 (8): 407–9. PMID 6454826.
- ↑ Lodi R, Schapira AH, Manners D, Styles P, Wood NW, Taylor DJ, Warner TT (July 2000). "Abnormal in vivo skeletal muscle energy metabolism in Huntington's disease and dentatorubropallidoluysian atrophy". Ann. Neurol. 48 (1): 72–6. PMID 10894218.
- ↑ Aziz NA, van der Burg JM, Landwehrmeyer GB, Brundin P, Stijnen T, Roos RA (November 2008). "Weight loss in Huntington disease increases with higher CAG repeat number". Neurology. 71 (19): 1506–13. doi:10.1212/01.wnl.0000334276.09729.0e. PMID 18981372.
- ↑ Squitieri F, Berardelli A, Nargi E, Castellotti B, Mariotti C, Cannella M, Lavitrano ML, de Grazia U, Gellera C, Ruggieri S (July 2000). "Atypical movement disorders in the early stages of Huntington's disease: clinical and genetic analysis". Clin. Genet. 58 (1): 50–6. PMID 10945661.
- ↑ Kereshi S, Schlagenhauff RE, Richardson KS (April 1980). "Myoclonic and major seizures in early adult Huntington's chorea: case-report and electro-clinical findings". Clin Electroencephalogr. 11 (2): 44–7. PMID 6446423.