Dystonia
|
Movie Trailers Illustrating My NAD Deficiencies
My NAD Articles Doccumenting NAD Relevancy
Dystonia and deafness due to SUCLA2 defect; Clinic…
Patients with SUCLA2 gene defects characteristically develop the trias of early hypotonia, progressive dystonia and sensori-neural deafness. We describe the clinical course and biochemical phenotype i… Read more
|
Pyruvate dehydrogenase deficiency presenting as dy…
Two individuals with pyruvate dehydrogenase (PDH) deficiency due to missense mutations in the gene for the E1alpha subunit (PDHA1) presented during childhood with dystonia.
The first pat… Read more |





Comments
Add comment
Dr_Abram_Hoffer
NAD_Blood_Tests