Fig. 2
From: 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: one disease - many faces
Cognitive development and neurologic complications in 139 HMGCLD patients. 62.6% of patients show normal development, while severe mental disability is rather rare in this patient cohort. Neurologic symptoms were documented in 10 patients including spastic hemiparesis or tetraplegia, distinct muscular hypotonia, impairment of vision and hearing, cerebellar ataxia, movement disorders, tremor, clonic movements, mild dysarthria, exaggerated deep tendon reflexes and absence of social contact. Seizures were reported in 13 patients