Axial hypotonia

Dystonia and axial hypotonia are reported to be the predominant neurologic findings following an encephalopathic crisis, although dyskinesia and slight spastic signs have also been reported [11, 12]. The phenotype of GA-1 does evolve with time, and a fixed dystonia and akinetic-rigid parkinsonism have been reported in older patients [13]. 

To date, isolated 2-KGD deficiency (El or E2) has only been described in five families [1-6]. The clinical presentation of the disease is heterogeneous. Age of onset varies between the neonatal period and 16 months of life. Symptoms include axial hypotonia, developmental delay, variable pyramidal and extrapyramidal dysfunction, spasticity and hepatomegaly. One male patient presented with only mild neurological symptoms, which might have been an unspecific consequence of a complicated neonatal period and which ameliorated with age. Some patients died in infancy, whereas the mildly affected patient is still alive at age 14 years. 

CNS MRI/CT- brain atrophy, dilated ventricles Axial hypotonia/peripheral hypertonicity + ... 

---