Familial Dyskinesia And Facial Myokymia

Description

Familial dyskinesia and facial myokymia is a rare paroxysmal movement disorder, with childhood or adolescent onset, characterized by 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.

Clinical Features

Top most frequent phenotypes and symptoms related to Familial Dyskinesia And Facial Myokymia

  • Intellectual disability
  • Generalized hypotonia
  • Motor delay
  • Hyperreflexia
  • Dysarthria
  • Tremor
  • Cardiomyopathy
  • Congestive heart failure
  • Hypertonia
  • Dystonia

And another 17 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

Familial Dyskinesia And Facial Myokymia Is also known as fdfm.

Researches and researchers

Doctors, researchs, and experts related to Familial Dyskinesia And Facial Myokymia extracted from public data.

Familial Dyskinesia And Facial Myokymia Experts map



Current Researchs and researchers

  • PARIS — Dr Denis HERVE

    Investigator of research project - Coordinator of research network

    • Institution/s:
      — IFM - UMR-S 839 Inserm / UPMC, IFM - Institut du Fer à Moulin
    • Research area/topic::

      A mouse model for studying pathophysiological mechanisms of ADCY5-related dyskinesia



Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Familial Dyskinesia And Facial Myokymia Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Dystonia Exome Panel.

By Genetic Services Laboratory University of Chicago (United States).

BCS1L, SCN8A, SCP2, SDHA, SGCE, SLC16A2, SLC20A2, SLC2A1, SLC6A3, SLC6A8, SPR, SQSTM1, STXBP1, SUCLA2, SUOX, SURF1, SYNJ1, TAF1, TBCD, TH , (...)

View the complete list with 150 more genes
Specificity
1 %
Genes
100 %
Neurogenetic Disorders - panels.

By MGZ Medical Genetics Center (Germany).

BCS1L, RTN2, RYR1, SACS, SCN1A, SCN1B, SCN2A, SCN8A, SCO1, SCO2, AIMP1, SDHA, SDHB, SDHC, SDHD, SGCE, SLC16A2, SLC17A5, SLC19A2, SLC1A3 , (...)

View the complete list with 572 more genes
Specificity
1 %
Genes
100 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company (Germany).

BCS1L, ROR2, RPL10, BDNF, RPS6KA3, RTN2, RYR1, SACS, BIN1, SBF1, SCN10A, SCN1A, SCN1B, SCN2A, SCN3A, SCN4A, SCN5A, SCN8A, SCN9A, SCO1 , (...)

View the complete list with 1177 more genes
Specificity
1 %
Genes
100 %
Choreatic Movement Disorders Panel.

By CeGaT GmbH (Germany).

ATXN1, ATXN2, ATXN7, TBP, NKX2-1, FRRS1L, JPH3, RNF216, ADCY5, C9orf72, FTL, GM2A, GNAO1, HTT, KCNA1, ARHGEF2, ATXN3, ATM, OPA3, PDE10A , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Paroxysmal Dyskinesia Panel.

By CeGaT GmbH (Germany).

SCN8A, SLC2A1, ADCY5, PRRT2, KCNMA1, PNKD
Specificity
17 %
Genes
100 %
Dystonia All Panel.

By CeGaT GmbH (Germany).

SGCE, SLC25A15, SLC2A1, SPR, TAF1, TH, TIMM8A, CACNA1B, ANO3, NPC2, PANK2, SLC19A3, BCAP31, CIZ1, MED20, MLC1, ACY1, ARX, VPS13A, CLCN1 , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
100 %
Single gene testing ADCY5.

By CeGaT GmbH (Germany).

ADCY5
Specificity
100 %
Genes
100 %
Dystonia.

By Asper Biogene Asper Biogene LLC (Estonia).

SGCE, SLC25A1, SLC2A1, SLC6A3, SPR, TAF1, TBCE, TH, TIMM8A, ACTB, CACNA1B, ANO3, PANK2, TUBB4A, THAP1, SLC39A14, COL6A3, ADCY5, SLC30A10, KCTD17 , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
100 %

We have 4 more panels available in our App

Get the app

Sources and references

You can check the following sources for additional information.

ORPHANET MESH OMIM Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like URIDINE 5-PRIME MONOPHOSPHATE HYDROLASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO PEROXISOME BIOGENESIS DISORDER 4B; PBD4B OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME; OPPG MALT LYMPHOMA DENTINOGENESIS IMPERFECTA, SHIELDS TYPE III

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more