Benign Paroxysmal Torticollis Of Infancy

Description

Benign paroxysmal torticollis of infancy (BPTI) is a rare functional disorder characterised by recurrent episodes of torticollic posturing of the head (inclination or tilting of the head to one side) in healthy children.

Clinical Features

Phenotypes and symptoms related to Benign Paroxysmal Torticollis Of Infancy

  • Ataxia
  • Vomiting
  • Irritability
  • Pallor
  • Vertigo
  • Migraine
  • Torticollis
  • Apathy
  • Drowsiness
  • Abnormal head movements

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Researches and researchers

Doctors, researchs, and experts related to Benign Paroxysmal Torticollis Of Infancy extracted from public data.

Benign Paroxysmal Torticollis Of Infancy Experts map



Current Researchs and researchers

  • PORTO — Pr Isabel SILVEIRA

    Investigator of research project

    • Institution/s:
      — Instituto de Biologia Molecular e Celular
    • Research area/topic::

      CACNA1A gene involvement in cognition and synaptic function in calcium channel disease.



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Benign Paroxysmal Torticollis Of Infancy Recommended genes panels

Panel Name, Specifity and genes Tested/covered
SCA6 (CACNA1A) Repeat Expansion Test.

By Athena Diagnostics Inc (United States).

CACNA1A
Specificity
100 %
Genes
100 %
Ataxia, Common Repeat Expansion Evaluation.

By Athena Diagnostics Inc (United States).

ATXN1, ATXN10, ATXN2, ATXN7, ATXN8OS, TBP, CACNA1A, ATXN3
Specificity
13 %
Genes
100 %
Episodic Ataxia Evaluation.

By Athena Diagnostics Inc (United States).

SLC1A3, CACNA1A, CACNB4, KCNA1
Specificity
25 %
Genes
100 %
Ataxia, Comprehensive Evaluation.

By Athena Diagnostics Inc (United States).

SACS, ATXN1, ATXN10, ATXN2, ATXN7, ATXN8OS, SLC1A3, SPTBN2, TBP, TTPA, VAMP1, CACNA1A, CACNB4, APTX, TGM6, COQ8A, SYNE1, TDP1, TTBK2, SYT14 , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
100 %
Ataxia, Supplemental Dominant Evaluation.

By Athena Diagnostics Inc (United States).

SLC1A3, SPTBN2, VAMP1, CACNA1A, CACNB4, TGM6, TTBK2, AFG3L2, EEF2, FGF14, ITPR1, KCNA1, KCNC3, KCND3, PDYN, PRKCG
Specificity
7 %
Genes
100 %
Ataxia, Complete Dominant Evaluation.

By Athena Diagnostics Inc (United States).

ATXN1, ATXN10, ATXN2, ATXN7, ATXN8OS, SLC1A3, SPTBN2, TBP, VAMP1, CACNA1A, CACNB4, TGM6, TTBK2, ATN1, AFG3L2, EEF2, FGF14, ITPR1, KCNA1, KCNC3 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %
Hemiplegic Migraine Sequencing Evaluation.

By Athena Diagnostics Inc (United States).

SCN1A, CACNA1A, ATP1A2
Specificity
34 %
Genes
100 %
CACNA1A Sequencing Test.

By Athena Diagnostics Inc (United States).

CACNA1A
Specificity
100 %
Genes
100 %

We have 156 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Search Engine

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