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GTR Home > Conditions/Phenotypes > Amyotrophic lateral sclerosis 27, juvenile

Amyotrophic lateral sclerosis 27, juvenile

Summary

Juvenile amyotrophic lateral sclerosis-27 (ALS27) is an autosomal dominant disorder characterized by early childhood-onset lower extremity spasticity manifesting as toe walking and gait abnormalities, followed by progressive lower motor neuron-mediated weakness without sensory signs or symptoms (Mohassel et al., 2021). For a discussion of genetic heterogeneity of amyotrophic lateral sclerosis, see ALS1 (105400). [from OMIM]

Available tests

2 tests are in the database for this condition.

Clinical tests (2 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ALS27, HSAN1, HSN1, LBC1, LCB1, SPT1, SPTI, SPTLC1
    Summary: serine palmitoyltransferase long chain base subunit 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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