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Eyelid apraxia

MedGen UID:
222979
Concept ID:
C1142448
Finding
Synonyms: Apraxia of eyelid; Difficulty opening the eyelids
SNOMED CT: Apraxia of eyelid (423142006)
 
HPO: HP:0000658

Term Hierarchy

Conditions with this feature

Pigmentary pallidal degeneration
MedGen UID:
6708
Concept ID:
C0018523
Disease or Syndrome
Pantothenate kinase-associated neurodegeneration (PKAN) is a type of neurodegeneration with brain iron accumulation (NBIA). The phenotypic spectrum of PKAN includes classic PKAN and atypical PKAN. Classic PKAN is characterized by early-childhood onset of progressive dystonia, dysarthria, rigidity, and choreoathetosis. Pigmentary retinal degeneration is common. Atypical PKAN is characterized by later onset (age >10 years), prominent speech defects, psychiatric disturbances, and more gradual progression of disease.
Supranuclear palsy, progressive, 2
MedGen UID:
324446
Concept ID:
C1836148
Disease or Syndrome
Autosomal recessive Parkinson disease 14
MedGen UID:
414488
Concept ID:
C2751842
Disease or Syndrome
Parkinson's disease can also affect emotions and thinking ability (cognition). Some affected individuals develop psychiatric conditions such as depression and visual hallucinations. People with Parkinson's disease also have an increased risk of developing dementia, which is a decline in intellectual functions including judgment and memory.\n\nGenerally, Parkinson's disease that begins after age 50 is called late-onset disease. The condition is described as early-onset disease if signs and symptoms begin before age 50. Early-onset cases that begin before age 20 are sometimes referred to as juvenile-onset Parkinson's disease.\n\nOften the first symptom of Parkinson's disease is trembling or shaking (tremor) of a limb, especially when the body is at rest. Typically, the tremor begins on one side of the body, usually in one hand. Tremors can also affect the arms, legs, feet, and face. Other characteristic symptoms of Parkinson's disease include rigidity or stiffness of the limbs and torso, slow movement (bradykinesia) or an inability to move (akinesia), and impaired balance and coordination (postural instability). These symptoms worsen slowly over time.\n\nParkinson's disease is a progressive disorder of the nervous system. The disorder affects several regions of the brain, especially an area called the substantia nigra that controls balance and movement.
Early-onset Parkinson disease 20
MedGen UID:
816154
Concept ID:
C3809824
Disease or Syndrome
Parkinson disease-20 is an autosomal recessive neurodegenerative disorder characterized by young adult-onset of parkinsonism. Additional features may include seizures, cognitive decline, abnormal eye movements, and dystonia (summary by Krebs et al., 2013 and Quadri et al., 2013). For a phenotypic description and a discussion of genetic heterogeneity of Parkinson disease, see PD (168600).
Supranuclear palsy, progressive, 1
MedGen UID:
1640811
Concept ID:
C4551863
Disease or Syndrome
The spectrum of clinical manifestations of MAPT-related frontotemporal dementia (MAPT-FTD) has expanded from its original description of frontotemporal dementia and parkinsonian manifestations to include changes in behavior, motor function, memory, and/or language. A recent retrospective study suggested that the majority of affected individuals have either behavioral changes consistent with a diagnosis of behavioral variant FTD (bvFTD) or, less commonly, a parkinsonian syndrome (i.e., progressive supranuclear palsy, corticobasal syndrome, or Parkinson disease). Fewer than 5% of people with MAPT-FTD have primary progressive aphasia or Alzheimer disease. Clinical presentation may differ between and within families with the same MAPT variant. MAPT-FTD is a progressive disorder that commonly ends with a relatively global dementia in which some affected individuals become mute. Progression of motor impairment in affected individuals results in some becoming chairbound and others bedbound. Mean disease duration is 9.3 (SD: 6.4) years but is individually variable and can be more than 30 years in some instances.

Professional guidelines

PubMed

Esposito M, Fasano A, Crisci C, Dubbioso R, Iodice R, Santoro L
Neurol Sci 2014 Mar;35(3):397-400. Epub 2013 Aug 15 doi: 10.1007/s10072-013-1526-2. PMID: 23949734

Recent clinical studies

Etiology

Sweeney AR, Dermarkarian CR, Williams KJ, Allen RC, Yen MT
Orbit 2021 Feb;40(1):39-43. Epub 2020 Mar 16 doi: 10.1080/01676830.2020.1739081. PMID: 32172614
Inoue K, Rogers JD
Eur Neurol 2007;58(3):138-41. Epub 2007 Jun 29 doi: 10.1159/000104713. PMID: 17622718
Ramasamy B, Rowe F, Freeman G, Owen M, Noonan C
J Neuroophthalmol 2007 Mar;27(1):32-5. doi: 10.1097/WNO.0b013e3180334f0b. PMID: 17414870
Nath U, Ben-Shlomo Y, Thomson RG, Lees AJ, Burn DJ
Neurology 2003 Mar 25;60(6):910-6. doi: 10.1212/01.wnl.0000052991.70149.68. PMID: 12654952

Diagnosis

Tawfik HA, Dutton JJ
Ophthalmic Plast Reconstr Surg 2023 May-Jun 01;39(3):211-220. Epub 2022 Sep 22 doi: 10.1097/IOP.0000000000002291. PMID: 36136731
Nath U, Ben-Shlomo Y, Thomson RG, Lees AJ, Burn DJ
Neurology 2003 Mar 25;60(6):910-6. doi: 10.1212/01.wnl.0000052991.70149.68. PMID: 12654952
Wenning GK, Jellinger K, Litvan I
J Neural Transm (Vienna) 1997;104(8-9):845-65. doi: 10.1007/BF01285553. PMID: 9451717
Abe K, Fujimura H, Tatsumi C, Toyooka K, Yorifuji S, Yanagihara T
J Neurol Neurosurg Psychiatry 1995 Dec;59(6):629-32. doi: 10.1136/jnnp.59.6.629. PMID: 7500103Free PMC Article
Verhulst S, Smet H, De Wilde F, Tassignon MJ
Bull Soc Belge Ophtalmol 1994;252:51-3. PMID: 7894756

Therapy

Sweeney AR, Dermarkarian CR, Williams KJ, Allen RC, Yen MT
Orbit 2021 Feb;40(1):39-43. Epub 2020 Mar 16 doi: 10.1080/01676830.2020.1739081. PMID: 32172614
Langevin JP, Srikandarajah N, Krahl SE, Gorgulho A, Behnke E, Malkasian D, DeSalles AA
J Clin Neurosci 2014 Sep;21(9):1652-3. Epub 2014 Apr 13 doi: 10.1016/j.jocn.2014.03.002. PMID: 24726237
Esposito M, Fasano A, Crisci C, Dubbioso R, Iodice R, Santoro L
Neurol Sci 2014 Mar;35(3):397-400. Epub 2013 Aug 15 doi: 10.1007/s10072-013-1526-2. PMID: 23949734
Inoue K, Rogers JD
Eur Neurol 2007;58(3):138-41. Epub 2007 Jun 29 doi: 10.1159/000104713. PMID: 17622718
Verhulst S, Smet H, De Wilde F, Tassignon MJ
Bull Soc Belge Ophtalmol 1994;252:51-3. PMID: 7894756

Prognosis

Inoue K, Rogers JD
Eur Neurol 2007;58(3):138-41. Epub 2007 Jun 29 doi: 10.1159/000104713. PMID: 17622718
Ramasamy B, Rowe F, Freeman G, Owen M, Noonan C
J Neuroophthalmol 2007 Mar;27(1):32-5. doi: 10.1097/WNO.0b013e3180334f0b. PMID: 17414870
Nath U, Ben-Shlomo Y, Thomson RG, Lees AJ, Burn DJ
Neurology 2003 Mar 25;60(6):910-6. doi: 10.1212/01.wnl.0000052991.70149.68. PMID: 12654952
Abe K, Fujimura H, Tatsumi C, Toyooka K, Yorifuji S, Yanagihara T
J Neurol Neurosurg Psychiatry 1995 Dec;59(6):629-32. doi: 10.1136/jnnp.59.6.629. PMID: 7500103Free PMC Article
Calabrese VP, Hadfield MG
Mov Disord 1991;6(3):257-60. doi: 10.1002/mds.870060311. PMID: 1922131

Clinical prediction guides

Tawfik HA, Dutton JJ
Ophthalmic Plast Reconstr Surg 2023 May-Jun 01;39(3):211-220. Epub 2022 Sep 22 doi: 10.1097/IOP.0000000000002291. PMID: 36136731
Vegda M, Panda S, Tiwari S, Shukla K, Pamnani J, Bhaskar S
Neurol India 2022 May-Jun;70(3):1166-1169. doi: 10.4103/0028-3886.349612. PMID: 35864657
Ramasamy B, Rowe F, Freeman G, Owen M, Noonan C
J Neuroophthalmol 2007 Mar;27(1):32-5. doi: 10.1097/WNO.0b013e3180334f0b. PMID: 17414870
Nath U, Ben-Shlomo Y, Thomson RG, Lees AJ, Burn DJ
Neurology 2003 Mar 25;60(6):910-6. doi: 10.1212/01.wnl.0000052991.70149.68. PMID: 12654952
Wenning GK, Jellinger K, Litvan I
J Neural Transm (Vienna) 1997;104(8-9):845-65. doi: 10.1007/BF01285553. PMID: 9451717

Recent systematic reviews

Nicoletti T, Quaranta D, Della Marca G, Tasca G, Gainotti G
J Clin Neurosci 2021 May;87:69-73. Epub 2021 Mar 12 doi: 10.1016/j.jocn.2021.02.020. PMID: 33863537

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