Spastic ataxia-dysarthria due to glutaminase deficiency

Definition

A rare genetic neurometabolic disease characterized by childhood onset of global developmental delay, progressive spastic ataxia leading to loss of independent ambulation, and elevated plasma levels of glutamine. Optic atrophy, tremor, and dysarthria have also been reported. Brain imaging may show cerebellar atrophy.

Disease data

Classification

Disease

ORPHA code

557056

OMIM code

ICD10 code

E88.8

ICD11 code

*Soruce