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GTR Home > Conditions/Phenotypes > Amyotrophic lateral sclerosis type 21

Amyotrophic lateral sclerosis type 21

Synonyms
Myopathy, distal, 2; VOCAL CORD AND PHARYNGEAL DYSFUNCTION WITH DISTAL MYOPATHY

Summary

Amyotrophic lateral sclerosis-21 (ALS21) is an autosomal dominant neurodegenerative disorder affecting upper and lower motor neurons, resulting in muscle weakness and respiratory failure. Some patients may develop myopathic features or dementia (summary by Johnson et al., 2014). For a discussion of genetic heterogeneity of amyotrophic lateral sclerosis, see ALS1 (105400). [from OMIM]

Available tests

28 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (28 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ALS21, MPD2, VCPDM, MATR3
    Summary: matrin 3

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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