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Jaw hyperreflexia

MedGen UID:
765822
Concept ID:
C3552908
Finding
Synonym: Brisk jaw jerk
 
HPO: HP:0033683

Definition

Increased intensity of muscle tendon reflexes in jaw. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVJaw hyperreflexia

Conditions with this feature

Dystonia 5
MedGen UID:
342121
Concept ID:
C1851920
Disease or Syndrome
GTP cyclohydrolase 1-deficient dopa-responsive dystonia (GTPCH1-deficient DRD) is characterized by childhood-onset dystonia and a dramatic and sustained response to low doses of oral administration of levodopa. This disorder typically presents with gait disturbance caused by foot dystonia, later development of parkinsonism, and diurnal fluctuation of symptoms (aggravation of symptoms toward the evening and alleviation of symptoms in the morning after sleep). Initial symptoms are often gait difficulties attributable to flexion-inversion (equinovarus posture) of the foot. Occasionally, initial symptoms are arm dystonia, postural tremor of the hand, or slowness of movements. Brisk deep-tendon reflexes in the legs, ankle clonus, and/or the striatal toe (dystonic extension of the big toe) are present in many affected individuals. In general, gradual progression to generalized dystonia is observed. Intellectual, cerebellar, sensory, and autonomic disturbances generally do not occur.
Mast syndrome
MedGen UID:
343325
Concept ID:
C1855346
Disease or Syndrome
Mast syndrome (MASTS) is an autosomal recessive complicated form of hereditary spastic paraplegia in which progressive spastic paraparesis is associated in more advanced cases with cognitive decline, dementia, and other neurologic abnormalities. Symptom onset usually occurs in adulthood, and the disorder is progressive with variable severity. Brain imaging shows thinning of the corpus callosum. The disorder occurs with high frequency in the Old Order Amish (summary by Simpson et al., 2003). For a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see SPG5A (270800).
Hereditary spastic paraplegia 50
MedGen UID:
442869
Concept ID:
C2752008
Disease or Syndrome
AP-4-associated hereditary spastic paraplegia (HSP), also known as AP-4 deficiency syndrome, is a group of neurodegenerative disorders characterized by a progressive, complex spastic paraplegia with onset typically in infancy or early childhood. Early-onset hypotonia evolves into progressive lower-extremity spasticity. The majority of children become nonambulatory and usually wheelchair bound. Over time spasticity progresses to involve the upper extremities, resulting in a spastic tetraplegia. Associated complications include dysphagia, contractures, foot deformities, dysregulation of bladder and bowel function, and a pseudobulbar affect. About 50% of affected individuals have seizures. Postnatal microcephaly (usually in the -2SD to -3SD range) is common. All have developmental delay. Speech development is significantly impaired and many affected individuals remain nonverbal. Intellectual disability in older children is usually moderate to severe.
Neurodevelopmental disorder with neuromuscular and skeletal abnormalities
MedGen UID:
1803456
Concept ID:
C5676965
Disease or Syndrome
Neurodevelopmental disorder with neuromuscular and skeletal abnormalities (NEDNMS) is an autosomal recessive disorder characterized by global developmental delay apparent from infancy or early childhood. The severity of the disorder is highly variable. Affected individuals show impaired intellectual development and motor delay associated with either severe hypotonia or hypertonia and spasticity. Most affected individuals have skeletal defects and dysmorphic facial features. Some may have ocular or auditory problems, peripheral neuropathy, behavioral abnormalities, and nonspecific findings on brain imaging (Kurolap et al., 2022).
Amyotrophic lateral sclerosis 27, juvenile
MedGen UID:
1840995
Concept ID:
C5830359
Disease or Syndrome
Juvenile amyotrophic lateral sclerosis-27 (ALS27) is an autosomal dominant disorder characterized by early childhood-onset lower extremity spasticity manifesting as toe walking and gait abnormalities, followed by progressive lower motor neuron-mediated weakness without sensory signs or symptoms (Mohassel et al., 2021). For a discussion of genetic heterogeneity of amyotrophic lateral sclerosis, see ALS1 (105400).

Recent clinical studies

Etiology

Shoaib KK, Abid MA, Aziz S, Azhar F, Shehzad MS, Ali SMS
J Coll Physicians Surg Pak 2023 Dec;33(12):1410-1413. doi: 10.29271/jcpsp.2023.12.1410. PMID: 38062598
Genc A, Isler SC, Keskin C, Oge AE, Matur Z
J Orofac Orthop 2023 Mar;84(2):100-109. Epub 2021 Sep 27 doi: 10.1007/s00056-021-00350-x. PMID: 34570255
Davis C, Nippita T
BMJ Case Rep 2020 Feb 16;13(2) doi: 10.1136/bcr-2019-232653. PMID: 32066577Free PMC Article
Cruccu G, Iannetti GD, Marx JJ, Thoemke F, Truini A, Fitzek S, Galeotti F, Urban PP, Romaniello A, Stoeter P, Manfredi M, Hopf HC
Brain 2005 Feb;128(Pt 2):386-94. Epub 2004 Dec 15 doi: 10.1093/brain/awh366. PMID: 15601661
Cruccu G, Leandri M, Feliciani M, Manfredi M
J Neurol Neurosurg Psychiatry 1990 Dec;53(12):1034-42. doi: 10.1136/jnnp.53.12.1034. PMID: 2292693Free PMC Article

Diagnosis

Dosunmu EO, Castleberry KM
Am J Med Genet C Semin Med Genet 2020 Sep;184(3):611-617. Epub 2020 Sep 10 doi: 10.1002/ajmg.c.31840. PMID: 32914532
Davis C, Nippita T
BMJ Case Rep 2020 Feb 16;13(2) doi: 10.1136/bcr-2019-232653. PMID: 32066577Free PMC Article
Soares J, Brigham de Figueiredo M, Prior AR, Malveiro D
J Pediatr 2019 Jul;210:234. Epub 2019 Apr 19 doi: 10.1016/j.jpeds.2019.03.029. PMID: 31010588
De Sanctis U, Alovisi C, Actis AG, Vinai L, Penna R, Fea A, Actis G, Grignolo F
Minerva Chir 2013 Dec;68(6 Suppl 1):37-47. PMID: 24172762
Rusyniak DE, Sprague JE
Med Clin North Am 2005 Nov;89(6):1277-96. doi: 10.1016/j.mcna.2005.06.002. PMID: 16227063

Therapy

Chhajed M, Gunasekaran PK, Saini L
Pediatr Neonatol 2024 Mar;65(2):192-193. Epub 2023 Nov 7 doi: 10.1016/j.pedneo.2023.10.003. PMID: 37951831
Hu B, Wu P, Zhou Y, Peng Y, Tang X, Ding W, Zhang M, Qi X
BMC Neurol 2017 Jun 29;17(1):123. doi: 10.1186/s12883-017-0902-6. PMID: 28662631Free PMC Article
Pawlukowska W, Gołąb-Janowska M, Safranow K, Rotter I, Amernik K, Honczarenko K, Nowacki P
Neurol Neurochir Pol 2015;49(5):302-6. Epub 2015 Jul 30 doi: 10.1016/j.pjnns.2015.07.002. PMID: 26377981
Rusyniak DE, Sprague JE
Med Clin North Am 2005 Nov;89(6):1277-96. doi: 10.1016/j.mcna.2005.06.002. PMID: 16227063
Neilson PD, O'Dwyer NJ
J Neurol Neurosurg Psychiatry 1981 Nov;44(11):1013-9. doi: 10.1136/jnnp.44.11.1013. PMID: 7334387Free PMC Article

Prognosis

Genc A, Isler SC, Keskin C, Oge AE, Matur Z
J Orofac Orthop 2023 Mar;84(2):100-109. Epub 2021 Sep 27 doi: 10.1007/s00056-021-00350-x. PMID: 34570255
Al-Essa RS, Althaqib RN, Kikkawa DO, Alsuhaibani AH
Orbit 2022 Apr;41(2):211-215. Epub 2021 Jan 11 doi: 10.1080/01676830.2021.1872089. PMID: 33430670
Hu B, Wu P, Zhou Y, Peng Y, Tang X, Ding W, Zhang M, Qi X
BMC Neurol 2017 Jun 29;17(1):123. doi: 10.1186/s12883-017-0902-6. PMID: 28662631Free PMC Article
Pawlukowska W, Gołąb-Janowska M, Safranow K, Rotter I, Amernik K, Honczarenko K, Nowacki P
Neurol Neurochir Pol 2015;49(5):302-6. Epub 2015 Jul 30 doi: 10.1016/j.pjnns.2015.07.002. PMID: 26377981
Sobel RK, Allen RC
Ophthalmic Plast Reconstr Surg 2014 May-Jun;30(3):e54-5. doi: 10.1097/IOP.0b013e31829bb405. PMID: 23880977

Clinical prediction guides

Shoaib KK, Abid MA, Aziz S, Azhar F, Shehzad MS, Ali SMS
J Coll Physicians Surg Pak 2023 Dec;33(12):1410-1413. doi: 10.29271/jcpsp.2023.12.1410. PMID: 38062598
Althaqib RN, Khan AO, Alsuhaibani AH
Ophthalmic Plast Reconstr Surg 2020 Nov/Dec;36(6):566-568. doi: 10.1097/IOP.0000000000001637. PMID: 32810032
Pillai RS, Pigg M, List T, Karlsson P, Mladenović Ž, Vase L, Nørholt SE, Pedersen TK, Bengtsson M, Costa YM, Svensson P, Baad-Hansen L
Clin J Pain 2020 May;36(5):321-335. doi: 10.1097/AJP.0000000000000806. PMID: 31977376
Khurana RK, Mayer RF
Headache 1997 Sep;37(8):522-6. doi: 10.1046/j.1526-4610.1997.3708522.x. PMID: 9329237
Deuschl G, Toro C, Valls-Solé J, Zeffiro T, Zee DS, Hallett M
Brain 1994 Aug;117 ( Pt 4):775-88. doi: 10.1093/brain/117.4.775. PMID: 7922465

Recent systematic reviews

de Almeida VL, Vitorino Nde S, Nascimento AL, da Silva Júnior DC, de Freitas PH
Int J Oral Maxillofac Surg 2016 Mar;45(3):304-7. Epub 2015 Nov 23 doi: 10.1016/j.ijom.2015.10.022. PMID: 26616027

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