Dystonia, Childhood-onset, With Optic Atrophy And Basal Ganglia Abnormalities; Dytoabg

Description

Childhood-onset dystonia with optic atrophy and basal ganglia abnormalities is an autosomal recessive neurologic disorder characterized by onset of involuntary movements in the first decade of life. Optic atrophy develops around the same time or slightly later. Severity is variable, and some patients lose independent ambulation. Brain imaging shows abnormalities in the basal ganglia. Cognition appears to be unaffected (summary by Heimer et al., 2016).

Clinical Features

Top most frequent phenotypes and symptoms related to Dystonia, Childhood-onset, With Optic Atrophy And Basal Ganglia Abnormalities; Dytoabg

  • Seizures
  • Ataxia
  • Nystagmus
  • Motor delay
  • Spasticity
  • Visual impairment
  • Hyperreflexia
  • Dysarthria
  • Optic atrophy
  • Gait disturbance
And another 12 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


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Dystonia, Childhood-onset, With Optic Atrophy And Basal Ganglia Abnormalities; Dytoabg Recommended genes panels

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

By Genetic Services Laboratory University of Chicago in United States.

AARS2, UQCRQ, ATP7B, AUH, BCS1L, PSEN1, GLB1, HPRT1, POLG, NDUFS4, AFG3L2, FOXRED1, NDUFAF2, PANK2, MECP2, NDUFA12, NDUFA9, TTC19, NDUFA10, SCP2 , (...)

View the complete list with 150 more genes
Specificity
1 %
Genes
100 %
Ataxia Exome Panel.

By Genetic Services Laboratory University of Chicago in United States.

FMR1, TTR, UBE3A, AARS2, ABHD12, PC, UQCRQ, UQCRB, HLCS, BTD, ATP7B, ATPAF2, AUH, BCKDHA, BCKDHB, BCS1L, TWNK, C12orf65, ADSL, PRKCG , (...)

View the complete list with 460 more genes
Specificity
1 %
Genes
100 %
Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Sequencing.

By NBIA Testing Center Oregon Health & Science University in United States.

TRIM32, PANK2, SCP2, SQSTM1, PLA2G6, KIF1A, FA2H, ATP13A2, WDR45, VPS13A, FUCA1, C19orf12, FTL, CP, COASY, DCAF17, KMT2B, MECR, SLC39A14
Specificity
6 %
Genes
100 %
Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Sequencing and Deletion/Duplication.

By NBIA Testing Center Oregon Health & Science University in United States.

TRIM32, PANK2, SCP2, SQSTM1, PLA2G6, KIF1A, FA2H, ATP13A2, WDR45, VPS13A, FUCA1, C19orf12, FTL, CP, COASY, DCAF17, KMT2B, MECR, SLC39A14
Specificity
6 %
Genes
100 %
MECR.

By Fulgent Genetics Fulgent Genetics in United States.

MECR
Specificity
100 %
Genes
100 %

Alternate names

Dystonia, Childhood-onset, With Optic Atrophy And Basal Ganglia Abnormalities; Dytoabg Is also known as dystonia 29, childhood-onset;dyt29.



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