- CBC: normal
- CK: normal
- AFP: <3.5, normal
- Hexosaminidase A, 67.5% activity: normal
- Liver enzymes: normal
- Ceruloplasmin: normal
- Copper: normal
- Fatty acid profile: normal
- Metabolic screen: normal
- Amino acid profiles, several, all normal
- Total and free carnitine values: normal
- Very long chain fatty acids: normal
- ESR: normal at 14
- ASO: normal at 52
- ANA: negative
- Lipoprotein profile: negative
- Vitamin E level: normal
- Coenzyme Q10 level: low at .43
- Extensive thyroid panel: normal
- Gliadin antibodies: negative
- Lactic acid: normal
- Organic acids: normal
- 3-methylglutaconicacid level: normal
- Immunoglobulins (IGA, IGG): normal
- Lipid extraction and thin layer chromatography of the urine showed no excess sulfatides. The enzyme activity for beta-galactosidase, beta-mannosidase, beta-hexosaminidase A, arylsulfatase A, galactocerebrosidase, and alpha-galactosidase were all within normal range. Therefore, testing for lysosomal storage diseases, as listed above, were normal
DYT1 Gene: normal
Friedrich's ataxia gene: normal
Tests
MRI/MRA: essentially normal at 3 and 5 years old; some gray/white matter distribution problem seen on the spectroscopy
Spinal MRI: normal
EMG: normal at 3 and 5 years old
ENG: normal
EKG: normal at 3 years old
EEGs: right frontotemporal epileptiform activity (not always present) paroxysmal slowing and sharp wave transients
BAER: normal
SER: normal
VER: normal
PET scan : mild hypometablolism of left parietal and temporal cortices at 5 years old
CAT scan: normal at 6 years old
Musle Biopsy at 6 years old: ragged-red fibers
Symptom Summary
History
Home