infection-induced acute-onset axonal neuropathy

Term ID

DOID:0070798

Synonyms

• IIAAN

Definition

A motor neuron disease characterized by acute onset of progressive muscle weakness and axonal sensorimotor neuropathy following an infection or febrile episode in infancy or early childhood that has_material_basis_in homozygous or compound heterozygous mutation in the RCC1 gene on chromosome 1p35. Affected individuals may have progressive cerebral and cerebellar atrophy and may have recurrent episodes resulting in loss of ambulation, long-term ventilatory support, or early death. https://pubmed.ncbi.nlm.nih.gov/40683276/

References

• MIM:621333
• UMLS_CUI:C6065907

Ontology

Human Disease   ( DOID:0070798 )