1. Mendelian
  2. Rare Diseases
  3. JUVENILE AMYOTROPHIC LATERAL SCLEROSIS

Juvenile Amyotrophic Lateral Sclerosis

Table of contents:

Description

Juvenile amyotrophic lateral sclerosis (JALS) is a very rare severe motor neuron disease characterized by progressive upper and lower motor neuron degeneration causing facial spasticity, dysarthria, and gait disorders with onset before 25 years of age.

Genes related to Juvenile Amyotrophic Lateral Sclerosis

  • FUS
  • SPG11
  • SIGMAR1
  • ALS2

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Juvenile Amyotrophic Lateral Sclerosis

  • Spasticity
  • Hyperreflexia
  • Dysarthria
  • Skeletal muscle atrophy
  • Gait disturbance
  • Babinski sign
  • Abnormal pyramidal sign
  • Sensory neuropathy
  • Spastic gait
  • EMG abnormality

And another 8 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.

Alternative names

Juvenile Amyotrophic Lateral Sclerosis Is also known as jals, juvenile lou gehrig disease, juvenile charcot disease.

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.

Juvenile Amyotrophic Lateral Sclerosis 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
18 %
Genes
75 %
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
20 %
Genes
75 %
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
15 %
Genes
75 %
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
10 %
Genes
50 %
Fused in sarcoma (FUS) gene sequencing test.

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

FUS
Specificity
100 %
Genes
25 %
FUS. Complete sequencing.

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

FUS
Specificity
100 %
Genes
25 %
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
25 %
Tremor essential type 4 (sequence analysis of FUS gene).

By CGC Genetics (Portugal).

FUS
Specificity
100 %
Genes
25 %

You can get up to 146 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Symptoms Checker

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