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GTR Home > Conditions/Phenotypes > Amyotrophic lateral sclerosis 28

Amyotrophic lateral sclerosis 28

Summary

Amyotrophic lateral sclerosis-28 (ALS28) is an autosomal dominant neurodegenerative disorder characterized by adult onset of slowly progressive limb muscle weakness and atrophy resulting in gait difficulties, loss of ambulation, and distal upper limb weakness. Facial involvement is rare, but some patients may have respiratory insufficiency. EMG and muscle biopsy show active and chronic denervation. Patient-derived motor neurons show accumulation of TDP43 (605078) and toxic intranuclear RNA accumulation (Kume et al., 2023). For discussion of genetic heterogeneity of amyotrophic lateral sclerosis, see ALS1 (105400). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: ALS28, MIG13A, ST7, LRP12
    Summary: LDL receptor related protein 12

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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