autosomal recessive distal hereditary motor neuronopathy 2

Term ID

DOID:0111065

Synonyms

• autosomal recessive distal spinal muscular atrophy 2
• dHMNJ
• distal hereditary motor neuropathy Jerash type
• distal spinal muscular atrophy 2
• DSMA2
• spinal muscular atrophy Jerash type

Definition

A spinal muscular atrophy characterized by autosomal recessive inheritance of distal muscle weakness and muscle wasting primarily affecting the upper and lower limbswith onset typically in the first decade of life that has_material_basis_in homozygous mutation in the SIGMAR1 gene on chromosome 9p13. https://www.ncbi.nlm.nih.gov/pubmed/26078401

References

• GARD:10133
• MESH:C535715
• OMIM:605726
• ORDO:139552
• SNOMEDCT_US_2023_03_01:763533003
• UMLS_CUI:C1854023

Ontology

Human Disease   ( DOID:0111065 )