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amyotrophic lateral sclerosis type 2; juvenile amyotrophic lateral sclerosis
Epidemiology: rare
Pathology:
- neurodegeneration of upper & lower motor neurons
Genetics:
- associated with mutations in the gene for alsin
Clinical manifestations:
- upper & lower motor neuron disease
- hyperreflexia
- spasticity
- muscle fasciculation
- muscle atrophy
- results in fatal paralysis
- sensory abnormalities are absent
- death usually occurs within 2 to 5 years
Related
alsin; amyotrophic lateral sclerosis 2 chromosomal region candidate gene 6 protein; amyotrophic lateral sclerosis 2 protein (ALS2 ALS2CR6 KIAA1563)
General
amyotrophic lateral sclerosis (ALS); Lou Gerig's disease
genetic disease of the central nervous system
Database Correlations
OMIM 205100
References
OMIM :accession 205100