Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia; Als6

Clinical Features

Top most frequent phenotypes and symptoms related to Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia; Als6

  • Cognitive impairment
  • Skeletal muscle atrophy
  • Gait disturbance
  • Hyporeflexia
  • Dementia
  • Respiratory failure
  • Pallor
  • Neuronal loss in central nervous system
  • Fasciculations
  • Amyotrophic lateral sclerosis

And another 2 symptoms. If you need more information about this disease we can help you.

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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

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia; Als6 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Amyotrophic Lateral Sclerosis Advanced Evaluation.

By Athena Diagnostics Inc (United States).

SOD1, SQSTM1, TARDBP, UBQLN2, VAPB, VCP, FIG4, OPTN, CHMP2B, DCTN1, C9orf72, FUS, ALS2, SETX, ANG, SIGMAR1, PFN1
Specificity
6 %
Genes
100 %
Nonprevalent Amyotrophic Lateral Sclerosis Advanced Sequencing Evaluation.

By Athena Diagnostics Inc (United States).

SQSTM1, TARDBP, UBQLN2, VAPB, VCP, FIG4, OPTN, CHMP2B, DCTN1, FUS, ALS2, SETX, ANG, SIGMAR1, PFN1
Specificity
7 %
Genes
100 %
Amyotrophic Lateral Sclerosis.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

ATXN2, SOD1, TARDBP, UBQLN2, VAPB, VCP, VEGFA, FIG4, OPTN, SPART, CHMP2B, DCTN1, C9orf72, FUS, ALS2, SETX, ANG, NEFH, SIGMAR1, PFN1 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Dementia.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

SORL1, TARDBP, VCP, FIG4, OPTN, TREM2, CSF1R, CHMP2B, DCTN1, C9orf72, FUS, ALS2, SETX, GRN, ANG, APOE, APP, MAPT, PRNP, PSEN1 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Fused in sarcoma (FUS) gene sequencing test.

By Neurogenetics Department Cyprus Institute of Neurology and Genetics (Cyprus).

FUS
Specificity
100 %
Genes
100 %
FUS. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

FUS
Specificity
100 %
Genes
100 %
SOD1, FUS, TARDBP, ANG, C9orf72. NextGeneDx.Complete sequencing by NGS.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

SOD1, TARDBP, C9orf72, FUS, ANG
Specificity
20 %
Genes
100 %
Tremor essential type 4 (sequence analysis of FUS gene).

By CGC Genetics (Portugal).

FUS
Specificity
100 %
Genes
100 %

You can get up to 58 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

MESH OMIM Rare Disease Symptoms Checker

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