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Polyminimyoclonus

MedGen UID:
1671047
Concept ID:
C4732793
Finding
Synonyms: Facial-faucial-finger minimyoclonus; Minipolymyoclonus
 
HPO: HP:0031986

Definition

Minipolymyoclonus or polyminimyoclonus is a hyperkinetic movement disorder phenomenology characterized by intermittent, low-amplitude, arrhythmic movements of the hands, commonly of several fingers, with amplitudes just sufficient to produce visible and palpable movements of the joints. It is mostly noticed while the individual is maintaining a posture (commonly outstretched hands) or during action (especially the initial phase of movement). [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPolyminimyoclonus

Conditions with this feature

Charcot-Marie-Tooth disease, axonal, Type 2HH
MedGen UID:
1794213
Concept ID:
C5562003
Disease or Syndrome
Axonal Charcot-Marie-Tooth disease type 2HH (CMT2HH) is an autosomal dominant peripheral neuropathy characterized predominantly by onset of vocal cord weakness resulting in stridor in infancy or early childhood. The vocal cord paresis remains throughout life and may be severe enough to require tracheostomy. Additional features of the disorder usually include pes cavus and scoliosis. Some patients have mild distal muscle weakness and atrophy primarily affecting the lower limbs, although the upper limbs may also be involved, and distal sensory impairment, often with hyporeflexia (Sullivan et al., 2020). For a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 (118210).

Recent clinical studies

Etiology

Miki Y, Foti SC, Asi YT, Tsushima E, Quinn N, Ling H, Holton JL
Brain 2019 Sep 1;142(9):2813-2827. doi: 10.1093/brain/awz189. PMID: 31289815
Singh TD, Josephs KA, Machulda MM, Drubach DA, Apostolova LG, Lowe VJ, Whitwell JL
J Neurol 2015 Jun;262(6):1483-92. Epub 2015 Apr 11 doi: 10.1007/s00415-015-7732-5. PMID: 25862483Free PMC Article

Diagnosis

Lenka A, Jankovic J
Tremor Other Hyperkinet Mov (N Y) 2023;13:8. Epub 2023 Mar 28 doi: 10.5334/tohm.758. PMID: 37008994Free PMC Article
Meng D, Ghavami K, Chen T
BMJ Case Rep 2021 Oct 1;14(10) doi: 10.1136/bcr-2021-246831. PMID: 34598974Free PMC Article
Miki Y, Foti SC, Asi YT, Tsushima E, Quinn N, Ling H, Holton JL
Brain 2019 Sep 1;142(9):2813-2827. doi: 10.1093/brain/awz189. PMID: 31289815
Kamtchum Tatuene J, Vargas MI, Burkhardt K, Chofflon M
BMJ Case Rep 2013 Aug 28;2013 doi: 10.1136/bcr-2013-010061. PMID: 23986153Free PMC Article
Misra UK, Kalita J, Mishra VN, Kesari A, Mittal B
Arch Neurol 2005 Jan;62(1):120-3. doi: 10.1001/archneur.62.1.120. PMID: 15642858

Prognosis

Lenka A, Jankovic J
Tremor Other Hyperkinet Mov (N Y) 2023;13:8. Epub 2023 Mar 28 doi: 10.5334/tohm.758. PMID: 37008994Free PMC Article
Traschütz A, van Gaalen J, Oosterloo M, Vreeburg M, Kamsteeg EJ, Deininger N, Rieß O, Reimold M, Haack T, Schöls L, van de Warrenburg BP, Synofzik M
Parkinsonism Relat Disord 2019 May;62:215-220. Epub 2018 Nov 29 doi: 10.1016/j.parkreldis.2018.11.027. PMID: 30522958

Clinical prediction guides

Traschütz A, van Gaalen J, Oosterloo M, Vreeburg M, Kamsteeg EJ, Deininger N, Rieß O, Reimold M, Haack T, Schöls L, van de Warrenburg BP, Synofzik M
Parkinsonism Relat Disord 2019 May;62:215-220. Epub 2018 Nov 29 doi: 10.1016/j.parkreldis.2018.11.027. PMID: 30522958
Singh TD, Josephs KA, Machulda MM, Drubach DA, Apostolova LG, Lowe VJ, Whitwell JL
J Neurol 2015 Jun;262(6):1483-92. Epub 2015 Apr 11 doi: 10.1007/s00415-015-7732-5. PMID: 25862483Free PMC Article

Recent systematic reviews

Traschütz A, van Gaalen J, Oosterloo M, Vreeburg M, Kamsteeg EJ, Deininger N, Rieß O, Reimold M, Haack T, Schöls L, van de Warrenburg BP, Synofzik M
Parkinsonism Relat Disord 2019 May;62:215-220. Epub 2018 Nov 29 doi: 10.1016/j.parkreldis.2018.11.027. PMID: 30522958

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