Amyotrophic lateral sclerosis 1, autosomal recessive

MedGen UID:: 1807075
•Concept ID:: C5686324
•: Disease or Syndrome

Synonyms:	ALS1 AR - amyotrophic lateral sclerosis type 1 autosomal recessive; Autosomal recessive ALS (amyotrophic lateral sclerosis) type 1; Autosomal recessive amyotrophic lateral sclerosis type 1
SNOMED CT:	Autosomal recessive amyotrophic lateral sclerosis type 1 (1197524007); ALS1 AR - amyotrophic lateral sclerosis type 1 autosomal recessive (1197524007); Autosomal recessive ALS (amyotrophic lateral sclerosis) type 1 (1197524007)

Definition

An autosomal recessive hereditary neurodegenerative disease with characteristics of progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord. Associated with mutations in the superoxide dismutase-1 gene (SOD1) on chromosome 21q22. [from SNOMEDCT_US]

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Amyotrophic lateral sclerosis 1, autosomal recessive

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