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Familial dyskinesia and facial myokymia

MedGen UID:
338280
•Concept ID:
C1847627
•
Disease or Syndrome
Synonym: Dyskinesia, Familial, with Facial Myokymia
SNOMED CT: Familial dyskinesia and facial myokymia (763352005); FDFM - familial dyskinesia and facial myokymia (763352005)

Definition

A rare paroxysmal movement disorder with onset in childhood or adolescence. The disease has characteristics of paroxysmal choreiform, dystonic, and myoclonic movements involving the limbs (mostly distal upper limbs), neck and/or face, which can progressively increase in both frequency and severity until they become nearly constant. Patients may also present with delayed motor milestones, perioral and periorbital dyskinesias, dysarthria, hypotonia, and weakness. [from SNOMEDCT_US]

Recent clinical studies

Etiology

Case of infantile onset spinocerebellar ataxia type 5.
Jacob FD, Ho ES, Martinez-Ojeda M, Darras BT, Khwaja OS
J Child Neurol 2013 Oct;28(10):1292-5. Epub 2012 Aug 21 doi: 10.1177/0883073812454331. PMID: 22914369
The neurology and natural history of patients with indeterminate CAG repeat length mutations of the Huntington disease gene.
Panegyres PK, Goh JG
J Neurol Sci 2011 Feb 15;301(1-2):14-20. Epub 2010 Dec 13 doi: 10.1016/j.jns.2010.11.015. PMID: 21147489
Familial dyskinesia and facial myokymia (FDFM): Follow-up of a large family and linkage to chromosome 3p21-3q21.
Raskind WH, Matsushita M, Peter B, Biberston J, Wolff J, Lipe H, Burbank R, Bird TD
Am J Med Genet B Neuropsychiatr Genet 2009 Jun 5;150B(4):570-4. doi: 10.1002/ajmg.b.30879. PMID: 18980218Free PMC Article
Gabapentin for treatment of pain and tremor: a large case series.
Merren MD
South Med J 1998 Aug;91(8):739-44. doi: 10.1097/00007611-199808000-00007. PMID: 9715219
The relationship between trinucleotide repeat length and phenotypic variation in Machado-Joseph disease.
Matsumura R, Takayanagi T, Fujimoto Y, Murata K, Mano Y, Horikawa H, Chuma T
J Neurol Sci 1996 Jul;139(1):52-7. PMID: 8836972

Diagnosis

Combining exome/genome sequencing with data repository analysis reveals novel gene-disease associations for a wide range of genetic disorders.
Bertoli-Avella AM, Kandaswamy KK, Khan S, Ordonez-Herrera N, Tripolszki K, Beetz C, Rocha ME, Urzi A, Hotakainen R, Leubauer A, Al-Ali R, Karageorgou V, Moldovan O, Dias P, Alhashem A, Tabarki B, Albalwi MA, Alswaid AF, Al-Hassnan ZN, Alghamdi MA, Hadipour Z, Hadipour F, Al Hashmi N, Al-Gazali L, Cheema H, Zaki MS, Hüning I, Alfares A, Eyaid W, Al Mutairi F, Alfadhel M, Alkuraya FS, Al-Sannaa NA, AlShamsi AM, Ameziane N, Rolfs A, Bauer P
Genet Med 2021 Aug;23(8):1551-1568. Epub 2021 Apr 19 doi: 10.1038/s41436-021-01159-0. PMID: 33875846Free PMC Article
Phenotypic insights into ADCY5-associated disease.
Chang FC, Westenberger A, Dale RC, Smith M, Pall HS, Perez-Dueñas B, Grattan-Smith P, Ouvrier RA, Mahant N, Hanna BC, Hunter M, Lawson JA, Max C, Sachdev R, Meyer E, Crimmins D, Pryor D, Morris JG, Münchau A, Grozeva D, Carss KJ, Raymond L, Kurian MA, Klein C, Fung VS
Mov Disord 2016 Jul;31(7):1033-40. Epub 2016 Apr 8 doi: 10.1002/mds.26598. PMID: 27061943Free PMC Article
ADCY5 mutations are another cause of benign hereditary chorea.
Mencacci NE, Erro R, Wiethoff S, Hersheson J, Ryten M, Balint B, Ganos C, Stamelou M, Quinn N, Houlden H, Wood NW, Bhatia KP
Neurology 2015 Jul 7;85(1):80-8. Epub 2015 Jun 17 doi: 10.1212/WNL.0000000000001720. PMID: 26085604Free PMC Article
A de novo ADCY5 mutation causes early-onset autosomal dominant chorea and dystonia.
Carapito R, Paul N, Untrau M, Le Gentil M, Ott L, Alsaleh G, Jochem P, Radosavljevic M, Le Caignec C, David A, Damier P, Isidor B, Bahram S
Mov Disord 2015 Mar;30(3):423-7. Epub 2014 Dec 27 doi: 10.1002/mds.26115. PMID: 25545163
Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia.
Chen YZ, Friedman JR, Chen DH, Chan GC, Bloss CS, Hisama FM, Topol SE, Carson AR, Pham PH, Bonkowski ES, Scott ER, Lee JK, Zhang G, Oliveira G, Xu J, Scott-Van Zeeland AA, Chen Q, Levy S, Topol EJ, Storm D, Swanson PD, Bird TD, Schork NJ, Raskind WH, Torkamani A
Ann Neurol 2014 Apr;75(4):542-9. Epub 2014 Mar 13 doi: 10.1002/ana.24119. PMID: 24700542Free PMC Article

Therapy

Gabapentin for treatment of pain and tremor: a large case series.
Merren MD
South Med J 1998 Aug;91(8):739-44. doi: 10.1097/00007611-199808000-00007. PMID: 9715219
Familial paroxysmal kinesigenic ataxia and continuous myokymia.
Brunt ER, van Weerden TW
Brain 1990 Oct;113 ( Pt 5):1361-82. doi: 10.1093/brain/113.5.1361. PMID: 2245301

Prognosis

Phenotypic insights into ADCY5-associated disease.
Chang FC, Westenberger A, Dale RC, Smith M, Pall HS, Perez-Dueñas B, Grattan-Smith P, Ouvrier RA, Mahant N, Hanna BC, Hunter M, Lawson JA, Max C, Sachdev R, Meyer E, Crimmins D, Pryor D, Morris JG, Münchau A, Grozeva D, Carss KJ, Raymond L, Kurian MA, Klein C, Fung VS
Mov Disord 2016 Jul;31(7):1033-40. Epub 2016 Apr 8 doi: 10.1002/mds.26598. PMID: 27061943Free PMC Article
ADCY5 mutations are another cause of benign hereditary chorea.
Mencacci NE, Erro R, Wiethoff S, Hersheson J, Ryten M, Balint B, Ganos C, Stamelou M, Quinn N, Houlden H, Wood NW, Bhatia KP
Neurology 2015 Jul 7;85(1):80-8. Epub 2015 Jun 17 doi: 10.1212/WNL.0000000000001720. PMID: 26085604Free PMC Article
Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5.
Chen YZ, Matsushita MM, Robertson P, Rieder M, Girirajan S, Antonacci F, Lipe H, Eichler EE, Nickerson DA, Bird TD, Raskind WH
Arch Neurol 2012 May;69(5):630-5. doi: 10.1001/archneurol.2012.54. PMID: 22782511Free PMC Article
The neurology and natural history of patients with indeterminate CAG repeat length mutations of the Huntington disease gene.
Panegyres PK, Goh JG
J Neurol Sci 2011 Feb 15;301(1-2):14-20. Epub 2010 Dec 13 doi: 10.1016/j.jns.2010.11.015. PMID: 21147489
Familial dyskinesia and facial myokymia (FDFM): Follow-up of a large family and linkage to chromosome 3p21-3q21.
Raskind WH, Matsushita M, Peter B, Biberston J, Wolff J, Lipe H, Burbank R, Bird TD
Am J Med Genet B Neuropsychiatr Genet 2009 Jun 5;150B(4):570-4. doi: 10.1002/ajmg.b.30879. PMID: 18980218Free PMC Article

Clinical prediction guides

ADCY5 mutations are another cause of benign hereditary chorea.
Mencacci NE, Erro R, Wiethoff S, Hersheson J, Ryten M, Balint B, Ganos C, Stamelou M, Quinn N, Houlden H, Wood NW, Bhatia KP
Neurology 2015 Jul 7;85(1):80-8. Epub 2015 Jun 17 doi: 10.1212/WNL.0000000000001720. PMID: 26085604Free PMC Article
A de novo ADCY5 mutation causes early-onset autosomal dominant chorea and dystonia.
Carapito R, Paul N, Untrau M, Le Gentil M, Ott L, Alsaleh G, Jochem P, Radosavljevic M, Le Caignec C, David A, Damier P, Isidor B, Bahram S
Mov Disord 2015 Mar;30(3):423-7. Epub 2014 Dec 27 doi: 10.1002/mds.26115. PMID: 25545163
Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5.
Chen YZ, Matsushita MM, Robertson P, Rieder M, Girirajan S, Antonacci F, Lipe H, Eichler EE, Nickerson DA, Bird TD, Raskind WH
Arch Neurol 2012 May;69(5):630-5. doi: 10.1001/archneurol.2012.54. PMID: 22782511Free PMC Article
The neurology and natural history of patients with indeterminate CAG repeat length mutations of the Huntington disease gene.
Panegyres PK, Goh JG
J Neurol Sci 2011 Feb 15;301(1-2):14-20. Epub 2010 Dec 13 doi: 10.1016/j.jns.2010.11.015. PMID: 21147489
Familial dyskinesia and facial myokymia (FDFM): Follow-up of a large family and linkage to chromosome 3p21-3q21.
Raskind WH, Matsushita M, Peter B, Biberston J, Wolff J, Lipe H, Burbank R, Bird TD
Am J Med Genet B Neuropsychiatr Genet 2009 Jun 5;150B(4):570-4. doi: 10.1002/ajmg.b.30879. PMID: 18980218Free PMC Article

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