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GTR Home > Conditions/Phenotypes > Amyotrophic lateral sclerosis type 4

Amyotrophic lateral sclerosis type 4

Synonyms
AMYOTROPHIC LATERAL SCLEROSIS 4, JUVENILE; NEURONOPATHY, DISTAL HEREDITARY MOTOR, WITH PYRAMIDAL FEATURES; SETX-Related Amyotrophic Lateral Sclerosis
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

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). [from OMIM]

Available tests

62 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (62 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ALS4, AOA2, SCAN2, SCAR1, STEX, Sen1, bA479K20.2, SETX
    Summary: senataxin

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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