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Facial spasm

MedGen UID:
124458
Concept ID:
C0278151
Finding
Synonym: Facial tics
SNOMED CT: Facial spasm (32402008)
 
HPO: HP:0011468
Monarch Initiative: MONDO:0007593
OMIM®: 134300

Definition

Sudden, repetitive, nonrhythmic motor movements (spasms), involving the eyes and muscles of the face. [from HPO]

Clinical features

From HPO
Hyporeflexia
MedGen UID:
195967
Concept ID:
C0700078
Finding
Reduction of neurologic reflexes such as the knee-jerk reaction.
Anisocoria
MedGen UID:
1944
Concept ID:
C0003079
Finding
Anisocoria, or unequal pupil size, may represent a benign physiologic variant or a manifestation of disease.

Term Hierarchy

Conditions with this feature

Spinocerebellar ataxia type 25
MedGen UID:
373347
Concept ID:
C1837518
Disease or Syndrome
Spinocerebellar ataxia-25 (SCA25) is an autosomal dominant neurologic disorder characterized by the onset of lower limb ataxia resulting in gait difficulties in the first few decades of life, although later onset has been reported. Affected individuals often have upper limb involvement, dysarthria, scoliosis, abnormal eye movements, and sensory neuropathy with decreased reflexes. Some patients have sensorineural hearing loss. Brain imaging shows cerebellar atrophy. There is incomplete penetrance and variable expressivity, even within families (Barbier et al., 2022). For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400).
Amyloidosis, hereditary systemic 1
MedGen UID:
414031
Concept ID:
C2751492
Disease or Syndrome
Hereditary transthyretin (ATTR) amyloidosis is characterized by a slowly progressive peripheral sensorimotor and/or autonomic neuropathy as well as non-neuropathic changes of cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis. The disease usually begins in the third to fifth decade in persons from endemic foci in Portugal and Japan; onset is later in persons from other areas. Typically, sensory neuropathy starts in the lower extremities with paresthesias and hypesthesias of the feet, followed within a few years by motor neuropathy. In some persons, particularly those with early-onset disease, autonomic neuropathy is the first manifestation of the condition; findings can include: orthostatic hypotension, constipation alternating with diarrhea, attacks of nausea and vomiting, delayed gastric emptying, sexual impotence, anhidrosis, and urinary retention or incontinence. Cardiac amyloidosis is mainly characterized by progressive cardiomyopathy. Individuals with leptomeningeal amyloidosis may have the following CNS findings: dementia, psychosis, visual impairment, headache, seizures, motor paresis, ataxia, myelopathy, hydrocephalus, or intracranial hemorrhage.
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\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.\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.

Professional guidelines

PubMed

Gong Y, Li X, Zhou X, Pan T, Wang H, Chen C, Wang J, Wang S, Chen X
Medicine (Baltimore) 2022 Dec 16;101(50):e32182. doi: 10.1097/MD.0000000000032182. PMID: 36550879Free PMC Article
Wang QP, Bai M, Lei D
Altern Ther Health Med 2012 May-Jun;18(3):45-52. PMID: 22875561
Biglan AW, May M, Bowers RA
Arch Otolaryngol Head Neck Surg 1988 Dec;114(12):1407-12. doi: 10.1001/archotol.1988.01860240057024. PMID: 3056454

Recent clinical studies

Therapy

Serrera-Figallo MA, Ruiz-de-León-Hernández G, Torres-Lagares D, Castro-Araya A, Torres-Ferrerosa O, Hernández-Pacheco E, Gutierrez-Perez JL
Toxins (Basel) 2020 Feb 11;12(2) doi: 10.3390/toxins12020112. PMID: 32053883Free PMC Article
Tater P, Pandey S
Neurol India 2018 Mar-Apr;66(Supplement):S79-S89. doi: 10.4103/0028-3886.226441. PMID: 29503330
Teixeira LJ, Valbuza JS, Prado GF
Cochrane Database Syst Rev 2011 Dec 7;(12):CD006283. doi: 10.1002/14651858.CD006283.pub3. PMID: 22161401
Tan NC, Chan LL, Tan EK
QJM 2002 Aug;95(8):493-500. doi: 10.1093/qjmed/95.8.493. PMID: 12145388
Tan EK, Jankovic J
J Neuropsychiatry Clin Neurosci 2001 Summer;13(3):380-4. doi: 10.1176/jnp.13.3.380. PMID: 11514645

Prognosis

Aktan D, Depierreux F
Acta Neurol Belg 2024 Feb;124(1):17-23. Epub 2023 Jul 27 doi: 10.1007/s13760-023-02342-7. PMID: 37498482
Douse DM, Dornhoffer JR, Benson JC, Lane JI, Carlson ML
Am J Otolaryngol 2023 Sep-Oct;44(5):103952. Epub 2023 Jun 8 doi: 10.1016/j.amjoto.2023.103952. PMID: 37329696
Fang L, Ying S, Tao W, Lan M, Xiaotong Y, Nan J
Pain Pract 2014 Jan;14(1):16-21. Epub 2013 Feb 21 doi: 10.1111/papr.12041. PMID: 23433058
Boghen DR
Curr Opin Ophthalmol 1996 Dec;7(6):48-52. doi: 10.1097/00055735-199612000-00008. PMID: 10166553
Jones TW Jr, Waller RR, Samples JR
Mayo Clin Proc 1985 Oct;60(10):663-6. doi: 10.1016/s0025-6196(12)60741-1. PMID: 4033230

Clinical prediction guides

Douse DM, Dornhoffer JR, Benson JC, Lane JI, Carlson ML
Am J Otolaryngol 2023 Sep-Oct;44(5):103952. Epub 2023 Jun 8 doi: 10.1016/j.amjoto.2023.103952. PMID: 37329696
Goto Y, Inoue T
Acta Neurochir (Wien) 2022 Nov;164(11):2945-2951. Epub 2022 May 7 doi: 10.1007/s00701-022-05230-w. PMID: 35524812
Hitchon PW, Zanaty M, Moritani T, Uc E, Pieper CL, He W, Noeller J
Clin Neurol Neurosurg 2015 Dec;139:216-20. Epub 2015 Oct 22 doi: 10.1016/j.clineuro.2015.10.012. PMID: 26519891
Teixeira LJ, Valbuza JS, Prado GF
Cochrane Database Syst Rev 2011 Dec 7;(12):CD006283. doi: 10.1002/14651858.CD006283.pub3. PMID: 22161401
Horner KC, Cazals Y
Noise Health 2003 Jul-Sep;5(20):29-34. PMID: 14558890

Recent systematic reviews

Thirumala PD, Altibi AM, Chang R, Saca EE, Iyengar P, Reddy R, Anetakis K, Crammond DJ, Balzer JR, Sekula RF
Neurosurgery 2020 Sep 15;87(4):E473-E484. doi: 10.1093/neuros/nyaa069. PMID: 32297629
Wang QP, Bai M, Lei D
Altern Ther Health Med 2012 May-Jun;18(3):45-52. PMID: 22875561
Teixeira LJ, Valbuza JS, Prado GF
Cochrane Database Syst Rev 2011 Dec 7;(12):CD006283. doi: 10.1002/14651858.CD006283.pub3. PMID: 22161401
Teixeira LJ, Soares BG, Vieira VP, Prado GF
Cochrane Database Syst Rev 2008 Jul 16;(3):CD006283. doi: 10.1002/14651858.CD006283.pub2. PMID: 18646144

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