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Impairment of activities of daily living

MedGen UID:
1372026
Concept ID:
C4476938
Finding
HPO: HP:0031058

Definition

Difficulty in performing one or more activities normally performed every day, such as eating, bathing, dressing, grooming, work, homemaking, and leisure. [from HPO]

Conditions with this feature

Alzheimer disease 4
MedGen UID:
376072
Concept ID:
C1847200
Disease or Syndrome
Alzheimer's disease is a degenerative disease of the brain that causes dementia, which is a gradual loss of memory, judgment, and ability to function. This disorder usually appears in people older than age 65, but less common forms of the disease appear earlier in adulthood.\n\nMemory loss is the most common sign of Alzheimer's disease. Forgetfulness may be subtle at first, but the loss of memory worsens over time until it interferes with most aspects of daily living. Even in familiar settings, a person with Alzheimer's disease may get lost or become confused. Routine tasks such as preparing meals, doing laundry, and performing other household chores can be challenging. Additionally, it may become difficult to recognize people and name objects. Affected people increasingly require help with dressing, eating, and personal care.\n\nAs the disorder progresses, some people with Alzheimer's disease experience personality and behavioral changes and have trouble interacting in a socially appropriate manner. Other common symptoms include agitation, restlessness, withdrawal, and loss of language skills. People with Alzheimer's disease usually require total care during the advanced stages of the disease.\n\nAlzheimer's disease can be classified as early-onset or late-onset. The signs and symptoms of the early-onset form appear between a person's thirties and mid-sixties, while the late-onset form appears during or after a person's mid-sixties. The early-onset form of Alzheimer's disease is much less common than the late-onset form, accounting for less than 10 percent of all cases of Alzheimer's disease.\n\nIndividuals with Alzheimer's disease usually survive 8 to 10 years after the appearance of symptoms, but the course of the disease can range from 1 to 25 years. Survival is usually shorter in individuals diagnosed after age 80 than in those diagnosed at a younger age. In Alzheimer's disease, death usually results from pneumonia, malnutrition, or general body wasting (inanition).
Charcot-Marie-Tooth disease, demyelinating, IIA 1I
MedGen UID:
1811493
Concept ID:
C5676914
Disease or Syndrome
Demyelinating Charcot-Marie-Tooth disease type 1I (CMT1I) is a neurologic disorder characterized predominantly by delayed motor development in the first years of life associated with gait abnormalities, sensory ataxia, hyporeflexia, and distal sensory impairment due to a sensorimotor peripheral neuropathy that mainly affects the lower limbs. The disorder is progressive, and some may have upper limb involvement. A subset of patients has central nervous system involvement that manifests as global developmental delay with impaired intellectual development and speech difficulties. Other features may include spasticity, hyperreflexia, tremor, dysmetria, seizures, or cerebellar findings. Brain imaging may be normal or show nonspecific abnormalities, such as white matter signal changes and delayed myelination (summary by Djordjevic et al., 2021). For a discussion of genetic heterogeneity of autosomal dominant Charcot-Marie-Tooth disease type 1, see CMT1B (118200).

Professional guidelines

PubMed

Jaqua EE, Tran MN, Hanna M
Am Fam Physician 2024 Sep;110(3):281-293. PMID: 39283851
Park J, Simpson C, Patel K
Ann Pharmacother 2024 Oct;58(10):1045-1053. Epub 2023 Dec 14 doi: 10.1177/10600280231218253. PMID: 38095619
Meyer SA, Singh H, Jenkins AL
Mt Sinai J Med 2010 Jan-Feb;77(1):124-9. doi: 10.1002/msj.20162. PMID: 20101725

Recent clinical studies

Etiology

Bradfield NI
Clin EEG Neurosci 2023 Jan;54(1):4-11. Epub 2021 Sep 22 doi: 10.1177/15500594211042708. PMID: 34549629
Son C, Park JH
Int J Environ Res Public Health 2022 Nov 29;19(23) doi: 10.3390/ijerph192315875. PMID: 36497946Free PMC Article
Hu M, Shu X, Yu G, Wu X, Välimäki M, Feng H
J Med Internet Res 2021 Feb 24;23(2):e20298. doi: 10.2196/20298. PMID: 33625369Free PMC Article
Reddy S, Hashmi A
Clin Geriatr Med 2020 Aug;36(3):419-429. Epub 2020 Apr 17 doi: 10.1016/j.cger.2020.04.003. PMID: 32586472
Magnin E, Hugonot-Diener L, De Rotrou J, Machado C, Benisty S, Dieudonné B, Marchal D, Strub ML, Verny M; GREFON commission of the GRECO
Rev Neurol (Paris) 2017 Apr;173(4):194-200. Epub 2017 Apr 6 doi: 10.1016/j.neurol.2017.03.003. PMID: 28392062

Diagnosis

Bradfield NI
Clin EEG Neurosci 2023 Jan;54(1):4-11. Epub 2021 Sep 22 doi: 10.1177/15500594211042708. PMID: 34549629
Leung AYM, Su JJ, Lee ESH, Fung JTS, Molassiotis A
BMC Geriatr 2022 Apr 8;22(1):304. doi: 10.1186/s12877-022-02980-1. PMID: 35395736Free PMC Article
Hu M, Shu X, Yu G, Wu X, Välimäki M, Feng H
J Med Internet Res 2021 Feb 24;23(2):e20298. doi: 10.2196/20298. PMID: 33625369Free PMC Article
Poncet F, Swaine B, Dutil E, Chevignard M, Pradat-Diehl P
Neuropsychol Rehabil 2017 Jul;27(5):618-666. Epub 2017 Jan 11 doi: 10.1080/09602011.2016.1268171. PMID: 28075219
Olsen K, Taylor JP, Thomas A
Maturitas 2014 Jun;78(2):82-5. Epub 2014 Mar 22 doi: 10.1016/j.maturitas.2014.03.004. PMID: 24709165

Therapy

Liao YY, Tseng HY, Lin YJ, Wang CJ, Hsu WC
Eur J Phys Rehabil Med 2020 Feb;56(1):47-57. Epub 2019 Oct 15 doi: 10.23736/S1973-9087.19.05899-4. PMID: 31615196
Thieme H, Morkisch N, Mehrholz J, Pohl M, Behrens J, Borgetto B, Dohle C
Cochrane Database Syst Rev 2018 Jul 11;7(7):CD008449. doi: 10.1002/14651858.CD008449.pub3. PMID: 29993119Free PMC Article
Laver KE, Lange B, George S, Deutsch JE, Saposnik G, Crotty M
Cochrane Database Syst Rev 2017 Nov 20;11(11):CD008349. doi: 10.1002/14651858.CD008349.pub4. PMID: 29156493Free PMC Article
Legg LA, Lewis SR, Schofield-Robinson OJ, Drummond A, Langhorne P
Cochrane Database Syst Rev 2017 Jul 19;7(7):CD003585. doi: 10.1002/14651858.CD003585.pub3. PMID: 28721691Free PMC Article
Tomlinson CL, Patel S, Meek C, Herd CP, Clarke CE, Stowe R, Shah L, Sackley C, Deane KH, Wheatley K, Ives N
BMJ 2012 Aug 6;345:e5004. doi: 10.1136/bmj.e5004. PMID: 22867913Free PMC Article

Prognosis

Irwin LN, Soto EF, Chan ESM, Miller CE, Carrington-Forde S, Groves NB, Kofler MJ
Child Neuropsychol 2021 May;27(4):468-490. Epub 2021 Jan 18 doi: 10.1080/09297049.2020.1866521. PMID: 33459154Free PMC Article
Sanchez-Moreno J, Martinez-Aran A, Vieta E
Curr Psychiatry Rep 2017 Jan;19(1):3. doi: 10.1007/s11920-017-0752-3. PMID: 28097635
Robinson RG, Spalletta G
Can J Psychiatry 2010 Jun;55(6):341-9. doi: 10.1177/070674371005500602. PMID: 20540828Free PMC Article
Sperling MR
CNS Spectr 2004 Feb;9(2):98-101, 106-9. doi: 10.1017/s1092852900008464. PMID: 14999166
Schulz R, O'Brien AT, Bookwala J, Fleissner K
Gerontologist 1995 Dec;35(6):771-91. doi: 10.1093/geront/35.6.771. PMID: 8557205

Clinical prediction guides

Preston E, Ada L, Stanton R, Mahendran N, Dean CM
Stroke 2021 Oct;52(10):3217-3224. Epub 2021 Jul 9 doi: 10.1161/STROKEAHA.120.032345. PMID: 34238016
Hu M, Shu X, Yu G, Wu X, Välimäki M, Feng H
J Med Internet Res 2021 Feb 24;23(2):e20298. doi: 10.2196/20298. PMID: 33625369Free PMC Article
Sanchez-Moreno J, Martinez-Aran A, Vieta E
Curr Psychiatry Rep 2017 Jan;19(1):3. doi: 10.1007/s11920-017-0752-3. PMID: 28097635
McKnight PE, Monfort SS, Kashdan TB, Blalock DV, Calton JM
Clin Psychol Rev 2016 Apr;45:115-30. Epub 2015 Nov 6 doi: 10.1016/j.cpr.2015.10.005. PMID: 26953005
Bain PG, Findley LJ, Atchison P, Behari M, Vidailhet M, Gresty M, Rothwell JC, Thompson PD, Marsden CD
J Neurol Neurosurg Psychiatry 1993 Aug;56(8):868-73. doi: 10.1136/jnnp.56.8.868. PMID: 8350102Free PMC Article

Recent systematic reviews

Chen X, Liu F, Lin S, Yu L, Lin R
Arch Phys Med Rehabil 2022 Jul;103(7):1422-1435. Epub 2022 Apr 10 doi: 10.1016/j.apmr.2022.03.012. PMID: 35417757
Huang X, Zhao X, Li B, Cai Y, Zhang S, Wan Q, Yu F
J Sport Health Sci 2022 Mar;11(2):212-223. Epub 2021 May 16 doi: 10.1016/j.jshs.2021.05.003. PMID: 34004389Free PMC Article
Nogueira NGHM, Parma JO, Leão SESA, Sales IS, Macedo LC, Galvão ACDR, de Oliveira DC, Murça TM, Fernandes LA, Junqueira C, Lage GM, Ferreira BP
Brain Res Bull 2021 Dec;177:217-238. Epub 2021 Oct 7 doi: 10.1016/j.brainresbull.2021.10.003. PMID: 34626693
Thieme H, Morkisch N, Mehrholz J, Pohl M, Behrens J, Borgetto B, Dohle C
Cochrane Database Syst Rev 2018 Jul 11;7(7):CD008449. doi: 10.1002/14651858.CD008449.pub3. PMID: 29993119Free PMC Article
Laver KE, Lange B, George S, Deutsch JE, Saposnik G, Crotty M
Cochrane Database Syst Rev 2017 Nov 20;11(11):CD008349. doi: 10.1002/14651858.CD008349.pub4. PMID: 29156493Free PMC Article

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