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GTR Home > Tests > Autosomal Recessive Spinocerebellar Ataxia and Amyotrophic Lateral Sclerosis Type 4 via the SETX Gene

Indication

This is a clinical test intended for Help: Diagnosis, Mutation Confirmation, Pre-symptomatic, Risk Assessment, Screening

Clinical summary

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Imported from OMIM

Juvenile amyotrophic lateral sclerosis-4 (ALS4) is an autosomal dominant disorder characterized by distal muscle weakness and atrophy, normal sensation, and pyramidal signs, with onset of symptoms before the age of 25 years, a slow rate of progression, and a normal life span (summary by Chen et al., 2004). For a phenotypic description and a discussion of genetic heterogeneity of amyotrophic lateral sclerosis, see ALS1 (105400).

Clinical features

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Imported from Human Phenotype Ontology (HPO)

  • Amyotrophic lateral sclerosis
  • Clonus
  • Babinski sign
  • Hyperreflexia
  • Muscle fibrillation
  • Difficulty walking
  • Distal muscle weakness
  • EMG: positive sharp waves
  • Atrophy of the spinal cord
  • Axonal degeneration
  • Degeneration of anterior horn cells
  • Distal amyotrophy
  • Abnormal lower motor neuron morphology
  • Pallor of dorsal columns of the spinal cord
  • Diffuse axonal swelling
  • Peripheral axonal degeneration
  • Decreased compound muscle action potential amplitude
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Conditions tested

Target population

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Patients with SCAR1 (OMIM 606002) and patients with ALS 4 (OMIM 602433). This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in SETX.

Citations

Not provided

Clinical validity

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Not provided

Clinical utility

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Not provided

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