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GTR Home > Conditions/Phenotypes > Amyotrophic lateral sclerosis type 5

Amyotrophic lateral sclerosis type 5

Synonyms
AMYOTROPHIC LATERAL SCLEROSIS 5, JUVENILE

Summary

Autosomal recessive juvenile amyotrophic lateral sclerosis-5 (ALS5) is a neurodegenerative disorder characterized by onset of upper and lower motor neuron signs before age 25. Affected individuals have progressive spasticity of limb and facial muscles associated with distal amyotrophy. The disorder is slowly progressive, with cases of prolonged survival of more than 3 decades (summary by Orlacchio et al., 2010). For a phenotypic description and a discussion of genetic heterogeneity of amyotrophic lateral sclerosis (ALS), see ALS1 (105400). [from OMIM]

Available tests

25 tests are in the database for this condition.

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Clinical tests (25 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ALS5, CMT2X, KIAA1840, SPG11
    Summary: SPG11 vesicle trafficking associated, spatacsin

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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