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Hereditary geniospasm(GSM1)

MedGen UID:
348757
Concept ID:
C1860972
Finding; Finding
Synonyms: Chin myoclonus; Geniospasm; GENIOSPASM 1; GSM 1; Hereditary chin tremor/myoclonus; Trembling chin
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
HPO: HP:0012462
Monarch Initiative: MONDO:0008588
OMIM®: 190100
Orphanet: ORPHA53372

Definition

Geniospasm is characterized by spontaneous intermittent involuntary quivering or trembling of the chin that is intensified by stress or anxiety. The movements are first noticed in infancy or childhood and usually abate by late adulthood (Wadlington, 1958; Danek et al., 1991). [from OMIM]

Clinical features

From HPO
Anxiety
MedGen UID:
1613
Concept ID:
C0003467
Finding
Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is worry about the negative effects of past unpleasant experiences and future negative possibilities. Individuals may feel fearful, apprehensive, or threatened by uncertainty, and they may also have fears of falling apart or losing control.
Hereditary geniospasm
MedGen UID:
348757
Concept ID:
C1860972
Finding
Geniospasm is characterized by spontaneous intermittent involuntary quivering or trembling of the chin that is intensified by stress or anxiety. The movements are first noticed in infancy or childhood and usually abate by late adulthood (Wadlington, 1958; Danek et al., 1991).

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHereditary geniospasm

Conditions with this feature

Hereditary geniospasm
MedGen UID:
348757
Concept ID:
C1860972
Finding
Geniospasm is characterized by spontaneous intermittent involuntary quivering or trembling of the chin that is intensified by stress or anxiety. The movements are first noticed in infancy or childhood and usually abate by late adulthood (Wadlington, 1958; Danek et al., 1991).

Recent clinical studies

Diagnosis

Teng LY, Abd Hadi D, Anandakrishnan P, Murugesu S, Khoo TB, Mohamed AR
Brain Dev 2022 Sep;44(8):499-511. Epub 2022 Jun 4 doi: 10.1016/j.braindev.2022.05.005. PMID: 35672188
McGrath CP, Gorman KM, King MD
Pediatr Neurol 2019 Oct;99:91. Epub 2019 May 2 doi: 10.1016/j.pediatrneurol.2019.04.022. PMID: 31160121
Gonzalez-Alegre P, Kelkar P, Rodnitzky RL
Mov Disord 2006 Jul;21(7):1049-50. doi: 10.1002/mds.20878. PMID: 16602105
Soland VL, Bhatia KP, Sheean GL, Marsden CD
Mov Disord 1996 Nov;11(6):744-6. doi: 10.1002/mds.870110626. PMID: 8914107

Therapy

Gonzalez-Alegre P, Kelkar P, Rodnitzky RL
Mov Disord 2006 Jul;21(7):1049-50. doi: 10.1002/mds.20878. PMID: 16602105

Prognosis

Teng LY, Abd Hadi D, Anandakrishnan P, Murugesu S, Khoo TB, Mohamed AR
Brain Dev 2022 Sep;44(8):499-511. Epub 2022 Jun 4 doi: 10.1016/j.braindev.2022.05.005. PMID: 35672188

Clinical prediction guides

Jarman PR, Wood NW, Davis MT, Davis PV, Bhatia KP, Marsden CD, Davis MB
Am J Hum Genet 1997 Oct;61(4):928-33. doi: 10.1086/514883. PMID: 9382105Free PMC Article

Recent systematic reviews

Teng LY, Abd Hadi D, Anandakrishnan P, Murugesu S, Khoo TB, Mohamed AR
Brain Dev 2022 Sep;44(8):499-511. Epub 2022 Jun 4 doi: 10.1016/j.braindev.2022.05.005. PMID: 35672188

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